Joseph Gleeson

Title(s)Professor, Neurosciences
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
vCardDownload vCard

    Collapse Research 
    Collapse Research Activities and Funding
    Origins of Brain Somatic Mosaicism in Developmental Brain Disease
    NIH R01MH124890Aug 10, 2021 - May 31, 2026
    Role: Principal Investigator
    Developmental Mechanisms of Human Meningomyelocele
    NIH P01HD104436Dec 1, 2020 - Nov 30, 2025
    Role: Principal Investigator
    Burden of brain somatic mosaicism in Alzheimer's disease
    NIH R21AG070462Sep 15, 2020 - Aug 31, 2022
    Role: Principal Investigator
    Molecular basis of Zika-induced microcephaly
    NIH R01NS106387Sep 30, 2018 - Jun 30, 2023
    Role: Principal Investigator
    Molecular Characterization of Pontocerebellar Hypoplasia
    NIH R01NS098004Aug 15, 2016 - May 31, 2021
    Role: Principal Investigator
    Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease
    NIH U01MH108898Sep 22, 2015 - Jun 30, 2021
    Role: Principal Investigator
    Molecular characterization of Hemimegalencephaly
    NIH R01NS083823Jul 1, 2013 - Jun 30, 2019
    Role: Principal Investigator
    Developmental Mechanisms of Human Structural Brain Defects
    NIH P01HD070494Sep 1, 2011 - Jul 31, 2017
    Role: Principal Investigator
    Super-Resolution Imaging at the UCSD Microscopy Core
    NIH S10RR029130Aug 16, 2010 - Aug 15, 2011
    Role: Principal Investigator
    Jouberin and Nephrocystin in Joubert Syndrome
    NIH R01NS052455Jun 1, 2007 - Feb 28, 2017
    Role: Principal Investigator
    Patient-Oriented Research in Recessive Pediatric Brain Diseases
    NIH K24NS057382Apr 1, 2007 - Dec 31, 2011
    Role: Principal Investigator
    Advances in Midbrain/Hindbrain Malformations
    NIH R13NS053097Aug 1, 2005 - Jan 31, 2007
    Role: Principal Investigator
    Molecular Characterization of Joubert Syndrome
    NIH R01NS048453Jul 1, 2004 - Jun 30, 2021
    Role: Principal Investigator
    University of California San Diego Neuroscience Microscopy Imaging Core
    NIH P30NS047101Sep 30, 2003 - Nov 30, 2021
    Role: Principal Investigator
    Molecular Mechanisms of Neuronal Migration
    NIH K02NS042749Jan 15, 2002 - Dec 31, 2006
    Role: Principal Investigator
    Doublecortin in Neuronal Migration
    NIH R01NS041537Apr 1, 2001 - Feb 29, 2016
    Role: Principal Investigator
    Comprehensive Biology: Exploiting the Yeast Genome
    NIH P41RR011823Sep 30, 1996 - Jun 30, 2016
    Role: Co-Investigator
    IVEM and Image Analysis Resource
    NIH P41RR004050Dec 12, 1988 - Mar 31, 2014
    Role: Co-Investigator
    Specialized Cancer Center Support Grant
    NIH P30CA023100Apr 1, 1978 - Apr 30, 2024
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases. Nat Commun. 2024 Nov 12; 15(1):9802. Kim-McManus O, Gleeson JG, Mignon L, Smith Fine A, Yan W, Nolen N, Demarest S, Berry-Kravis E, Finkel R, Leonard S, Finlayson S, Augustine E, Lyon GJ, Schule R, Yu T. PMID: 39532857; PMCID: PMC11557703.
      View in: PubMed   Mentions:
    2. Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy. J Mol Neurosci. 2024 Oct 05; 74(4):93. Sharaf-Eldin WE, Rafat K, Issa MY, Elbendary HM, Eissa NR, Hawaary B, Gaboon NEA, Maroofian R, Gleeson JG, Essawi ML, Zaki MS. PMID: 39367186; PMCID: PMC11452470.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis. Hum Genet. 2024 Oct 04. Cogan G, Zaki MS, Issa M, Keren B, Guillaud-Bataille M, Renaldo F, Isapof A, Lallemant P, Stevanin G, Guillot-Noel L, Courtin T, Buratti J, Freihuber C, Gleeson JG, Howarth R, Durr A, de Sainte Agathe JM, Mignot C. PMID: 39367212.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Treating the Untreatable: Antisense Oligonucleotides as an Individualized Therapy for Rare Genetic Kidney Disease. J Am Soc Nephrol. 2024 Sep 27. Tekendo-Ngongang C, Gleeson JG, Mignon L. PMID: 39331470.
      View in: PubMed   Mentions:    Fields:    
    5. Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia. bioRxiv. 2024 Sep 26. Vong KI, Alvarez YD, Noel G, Barton ST, Chung C, Howarth R, Meave N, Zhang Q, Jiwani F, Barrows C, Patel A, Wang JX, Chi N, Kingsmore SF, White MD, Yang X, Gleeson JG. PMID: 39386543; PMCID: PMC11463384.
      View in: PubMed   Mentions:
    6. Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder. Genet Med. 2024 Sep 20; 101278. Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Hashem AMA, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH. PMID: 39315527.
      View in: PubMed   Mentions:    Fields:    
    7. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2024 Sep 10; 101251. Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Javed I, Carr L, Kanani F, Beecroft F, Hane L, Abdelkreem E, Macek M, Bispo L, Elmaksoud MA, Hashemi-Gorji F, Pehlivan D, Amor DJ, Jamra RA, Chung WK, Ghayoor EK, Campeau P, Alkuraya FS, Pagnamenta AT, Gleeson J, Lupski JR, Striano P, Moreno-De-Luca A, Lafontaine DLJ, Houlden H, Maroofian R. PMID: 39275948.
      View in: PubMed   Mentions:    Fields:    
    8. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine. 2024 Sep; 107:105297. Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Çakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. PMID: 39191170; PMCID: PMC11400611.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun. 2024 Aug 22; 15(1):7239. Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T, Undiagnosed Diseases Network, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. PMID: 39174524; PMCID: PMC11341845.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    10. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nat Med. 2024 Oct; 30(10):2782-2786. Ziegler A, Carroll J, Bain JM, Sands TT, Fee RJ, Uher D, Kanner CH, Montes J, Glass S, Douville J, Mignon L, Gleeson JG, Crooke ST, Chung WK. PMID: 39122967.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    11. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 06; 390(21):1985-1997. Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. PMID: 38838312; PMCID: PMC11350637.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    12. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. medRxiv. 2024 May 05. Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU, SYNAPS Study Group, Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, Houlden H. PMID: 38746364; PMCID: PMC11092723.
      View in: PubMed   Mentions:
    13. Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 05 03; 384(6695):584-590. Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA, Spina Bifida Sequencing Consortium‡, Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. PMID: 38696583.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    14. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study. Cerebellum. 2024 Oct; 23(5):1950-1965. Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, Ozcora GDK, Gumus U, Sezer O, Cetin GO, Demir F, Yilmaz A, Gurbuz G, Topcu M, Topaloglu H, Ceylan AC, Ceylaner S, Gleeson JG, Icagasioglu DF, Sonmez FM. PMID: 38622473; PMCID: PMC11489189.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    15. Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain. Nature. 2024 May; 629(8011):384-392. Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Kingsmore SF, Gleeson JG. PMID: 38600385; PMCID: PMC11194162.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    16. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 Apr 04; 147(4):1436-1456. Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. PMID: 37951597; PMCID: PMC10994533.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    17. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. PMID: 38565148; PMCID: PMC11080278.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    18. Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. medRxiv. 2024 Mar 05. Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Balla T, Gomes MV, Ramos-Morales E, Brivio E, Salinas-Giégé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Gable D, Alnuzha A, Kamel M, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. PMID: 38496416; PMCID: PMC10942499.
      View in: PubMed   Mentions:
    19. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. medRxiv. 2024 Jan 31. Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T, Undiagnosed Diseases Network, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. PMID: 38352438; PMCID: PMC10863025.
      View in: PubMed   Mentions:
    20. The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clin Genet. 2024 05; 105(5):510-522. Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L. PMID: 38221827.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    21. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Sci Data. 2023 11 20; 10(1):813. Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, McConnell M, Mills RE, Moran JV, Park PJ, Sestan N, Urban AE, Vaccarino FM, Walsh CA, Weinberger DR, Wheelan SJ, Abyzov A, BSMN Consortium. PMID: 37985666; PMCID: PMC10662356.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    22. Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. Am J Hum Genet. 2023 12 07; 110(12):2112-2119. Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. PMID: 37963460; PMCID: PMC10716347.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    23. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain. 2023 11 02; 146(11):4547-4561. Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. PMID: 37459438; PMCID: PMC10629776.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    24. Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy. Nat Genet. 2023 Nov; 55(11):1784-1785. Chung C, Yang X, Gleeson JG. PMID: 37872451; PMCID: PMC10842191.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    25. Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain. bioRxiv. 2023 Oct 26. Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Gleeson JG. PMID: 37961480; PMCID: PMC10634852.
      View in: PubMed   Mentions:
    26. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argili E, Le C, Sherr EH, Gleeson J, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan T, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. PMID: 37873196; PMCID: PMC10593084.
      View in: PubMed   Mentions:
    27. Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. Am J Med Genet A. 2023 11; 191(11):2757-2767. Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. PMID: 37596828; PMCID: PMC11141336.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    28. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain Commun. 2023; 5(5):fcad222. Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymus F, Scantlebury MH, Yesil G, Rosenfeld JA, Türkyilmaz A, Sager SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. PMID: 37794925; PMCID: PMC10546953.
      View in: PubMed   Mentions: 1  
    29. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. PMID: 38328047; PMCID: PMC10849673.
      View in: PubMed   Mentions: 1  
    30. Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv. 2023 Jun 27. Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Mor E, Tzvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Jeong WC, Lee H, Bauer P, Zifarelli G, Houlden H, Elpeleg O, Gordon C, Harel T, Õunap K, Salton M, Mor-Shaked H. PMID: 37425688; PMCID: PMC10327195.
      View in: PubMed   Mentions:
    31. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet. 2023 09; 31(9):1023-1031. Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. PMID: 37344571; PMCID: PMC10474045.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    32. Personalized antisense oligonucleotides 'for free, for life' - the n-Lorem Foundation. Nat Med. 2023 Jun; 29(6):1302-1303. Gleeson JG, Bennett CF, Carroll JB, Cole T, Douville J, Glass S, Tekendo-Ngongang C, Williford AC, Crooke ST. PMID: 37169866.
      View in: PubMed   Mentions: 7     Fields:    
    33. Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy. Nature. 2023 Jun; 618(7964):402-410. Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, González A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikic I, Hübner CA. PMID: 37225994; PMCID: PMC10247384.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    34. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathol. 2023 08; 146(2):353-368. Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. PMID: 37119330; PMCID: PMC10328903.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    35. Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS. Clin Genet. 2023 08; 104(2):238-244. Zaki MS, Sharaf-Eldin WE, Rafat K, Elbendary HM, Kamel M, Elkhateeb N, Noureldeen MM, Abdeltawab MA, Sadek AA, Essawi ML, Lau T, Murphy D, Abdel-Hamid MS, Holuden H, Issa MY, Gleeson JG. PMID: 37055917.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    36. Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing. JAMA Netw Open. 2023 02 01; 6(2):e2254069. Owen MJ, Wright MS, Batalov S, Kwon Y, Ding Y, Chau KK, Chowdhury S, Sweeney NM, Kiernan E, Richardson A, Batton E, Baer RJ, Bandoli G, Gleeson JG, Bainbridge M, Chambers CD, Kingsmore SF. PMID: 36757698; PMCID: PMC9912130.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    37. Stem Cell-Based Organoid Models of Neurodevelopmental Disorders. Biol Psychiatry. 2023 04 01; 93(7):622-631. Wang L, Owusu-Hammond C, Sievert D, Gleeson JG. PMID: 36759260; PMCID: PMC10022535.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    38. TMEM161B modulates radial glial scaffolding in neocortical development. Proc Natl Acad Sci U S A. 2023 01 24; 120(4):e2209983120. Wang L, Heffner C, Vong KI, Barrows C, Ha YJ, Lee S, Lara-Gonzalez P, Jhamb I, Van Der Meer D, Loughnan R, Parker N, Sievert D, Mittal S, Issa MY, Andreassen OA, Dale A, Dobyns WB, Zaki MS, Murray SA, Gleeson JG. PMID: 36669109; PMCID: PMC9942823.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    39. Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway. Cell Rep. 2023 01 31; 42(1):112003. Kim YE, Kim YS, Lee HE, So KH, Choe Y, Suh BC, Kim JH, Park SK, Mathern GW, Gleeson JG, Rah JC, Baek ST. PMID: 36641749.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    40. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nat Genet. 2023 02; 55(2):209-220. Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Gleeson JG. PMID: 36635388; PMCID: PMC9961399.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    41. Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nat Biotechnol. 2023 06; 41(6):870-877. Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, Sebat JL, NIMH Brain Somatic Mosaicism Network, Gleeson JG. PMID: 36593400; PMCID: PMC10314968.
      View in: PubMed   Mentions: 12     Fields:    
    42. Evaluating human mutation databases for "treatability" using patient-customized therapy. Med. 2022 11 11; 3(11):740-759. Mittal S, Tang I, Gleeson JG. PMID: 36370694.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    43. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genet Med. 2023 01; 25(1):90-102. Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. PMID: 36318270.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    44. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain. 2022 09 14; 145(9):3274-3287. Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. PMID: 35769015; PMCID: PMC9989350.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    45. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. Am J Hum Genet. 2022 10 06; 109(10):1909-1922. Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. PMID: 36044892; PMCID: PMC9606387.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    46. Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet. 2022 Aug; 54(8):1259. Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. PMID: 35768728.
      View in: PubMed   Mentions: 3     Fields:    
    47. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science. 2022 07 29; 377(6605):511-517. Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA, Brain Somatic Mosaicism Network§, Urban AE, Leckman JF, Weinberger DR, Vaccarino FM, Abyzov A. PMID: 35901164; PMCID: PMC9420557.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    48. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Am J Hum Genet. 2022 08 04; 109(8):1421-1435. Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. PMID: 35830857; PMCID: PMC9388382.
      View in: PubMed   Mentions: 4     Fields:    Translation:Animals
    49. Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission. Elife. 2022 07 05; 11. Breuss MW, Yang X, Stanley V, McEvoy-Venneri J, Xu X, Morales AJ, Gleeson JG. PMID: 35787314; PMCID: PMC9255958.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    50. Lidocaine Ineffectiveness Suggests New Psychopharmacology Drug Target. Psychopharmacol Bull. 2022 Jun 27; 52(3):20-30. Mintz M, Badner V, Feldman LK, Mintz P, Saraghi M, Diaz J, Mezhebovsky I, Axelrod I, Gleeson J, Liu C, Smith C, Chow H, Zurakowski D, Segal MM. PMID: 35815177; PMCID: PMC9235314.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCTClinical Trials
    51. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet. 2022 09; 54(9):1284-1292. Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. PMID: 35654974; PMCID: PMC9474668.
      View in: PubMed   Mentions: 66     Fields:    Translation:Humans
    52. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. Brain. 2022 05 24; 145(4):1551-1563. von Elsner L, Chai G, Schneeberger PE, Harms FL, Casar C, Qi M, Alawi M, Abdel-Salam GMH, Zaki MS, Arndt F, Yang X, Stanley V, Hempel M, Gleeson JG, Kutsche K. PMID: 34694367; PMCID: PMC9128818.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    53. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924. Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. PMID: 34605855; PMCID: PMC9050560.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    54. Somatic mosaicism reveals clonal distributions of neocortical development. Nature. 2022 04; 604(7907):689-696. Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, Nott A, McEvoy-Venneri J, Pasillas MP, Barton ST, Copeland BR, Nahas S, Van Der Kraan L, Ding Y, NIMH Brain Somatic Mosaicism Network, Glass CK, Gleeson JG. PMID: 35444276; PMCID: PMC9436791.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    55. A Zika virus mutation enhances transmission potential and confers escape from protective dengue virus immunity. Cell Rep. 2022 04 12; 39(2):110655. Regla-Nava JA, Wang YT, Fontes-Garfias CR, Liu Y, Syed T, Susantono M, Gonzalez A, Viramontes KM, Verma SK, Kim K, Landeras-Bueno S, Huang CT, Prigozhin DM, Gleeson JG, Terskikh AV, Shi PY, Shresta S. PMID: 35417697; PMCID: PMC9093040.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    56. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540. Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. PMID: 35322404; PMCID: PMC9359317.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    57. Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. J Hum Genet. 2022 Sep; 67(9):553-556. Caglayan AO, Tuysuz B, Gül E, Alkaya DU, Yalcinkaya C, Gleeson JG, Bilguvar K, Gunel M. PMID: 35338243; PMCID: PMC9420744.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    58. Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder. NPJ Genom Med. 2022 Jan 28; 7(1):9. Kumar R, Corbett MA, Smith NJC, Hock DH, Kikhtyak Z, Semcesen LN, Morimoto A, Lee S, Stroud DA, Gleeson JG, Haan EA, Gecz J. PMID: 35091571; PMCID: PMC8799713.
      View in: PubMed   Mentions: 6  
    59. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 03; 43(3):403-419. Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. PMID: 34989426; PMCID: PMC9152572.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    60. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021 Dec 02; 108(12):2385. Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. PMID: 34861176; PMCID: PMC8715173.
      View in: PubMed   Mentions:    Fields:    
    61. A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. N Engl J Med. 2021 09 30; 385(14):1292-1301. Chai G, Szenker-Ravi E, Chung C, Li Z, Wang L, Khatoo M, Marshall T, Jiang N, Yang X, McEvoy-Venneri J, Stanley V, Anzenberg P, Lang N, Wazny V, Yu J, Virshup DM, Nygaard R, Mancia F, Merdzanic R, Toralles MBP, Pitanga PML, Puri RD, Hernan R, Chung WK, Bertoli-Avella AM, Al-Sannaa N, Zaki MS, Willert K, Reversade B, Gleeson JG. PMID: 34587386; PMCID: PMC9017221.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    62. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. Am J Hum Genet. 2021 10 07; 108(10):2017-2023. Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, Care4Rare Canada Consortium, Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM. PMID: 34587489; PMCID: PMC8546048.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    63. Implication of folate deficiency in CYP2U1 loss of function. J Exp Med. 2021 11 01; 218(11). Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. PMID: 34546337; PMCID: PMC8480666.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    64. Developmental and temporal characteristics of clonal sperm mosaicism. Cell. 2021 09 02; 184(18):4772-4783.e15. Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. PMID: 34388390; PMCID: PMC8496133.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    65. A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology. Nat Med. 2021 09; 27(9):1600-1606. Wang L, Sievert D, Clark AE, Lee S, Federman H, Gastfriend BD, Shusta EV, Palecek SP, Carlin AF, Gleeson JG. PMID: 34244682; PMCID: PMC8601037.
      View in: PubMed   Mentions: 68     Fields:    Translation:HumansCells
    66. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 Jul 01; 108(7):1356. Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Çïmen DU, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yilmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Isikay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. PMID: 34214448; PMCID: PMC8322923.
      View in: PubMed   Mentions:    Fields:    
    67. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genet Med. 2021 10; 23(10):1933-1943. Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernández HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A, Genomics England Research Consortium, Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK. PMID: 34172899; PMCID: PMC8956360.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimals
    68. Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features. Eur J Hum Genet. 2021 08; 29(8):1226-1234. Zaki MS, Accogli A, Mirzaa G, Rahman F, Mohammed H, Porras-Hurtado GL, Efthymiou S, Maqbool S, Shukla A, Vincent JB, Hussain A, Mir A, Beetz C, Leubauer A, Houlden H, Gleeson JG, Maroofian R. PMID: 34163010; PMCID: PMC8385073.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    69. Sperm mosaicism: implications for genomic diversity and disease. Trends Genet. 2021 10; 37(10):890-902. Breuss MW, Yang X, Gleeson JG. PMID: 34158173; PMCID: PMC9484299.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    70. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 07 01; 108(7):1301-1317. Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Ugurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yilmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Isikay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. PMID: 34038740; PMCID: PMC8322802.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    71. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021 05 07; 12(1):2558. Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. PMID: 33963192; PMCID: PMC8105379.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    72. The Neurobiology of Modern Viral Scourges: ZIKV and COVID-19. Neuroscientist. 2022 10; 28(5):438-452. Mittal S, Federman HG, Sievert D, Gleeson JG. PMID: 33874789.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    73. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. Eur J Hum Genet. 2021 06; 29(6):957-964. Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG. PMID: 33824466; PMCID: PMC8187379.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    74. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biol. 2021 03 29; 22(1):92. Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B, Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D, Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S, Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marquès-Bonet T, Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR, Brain Somatic Mosaicism Network, Vaccarino FM, Moran JV, Urban AE, Kidd JM, Mills RE, Abyzov A. PMID: 33781308; PMCID: PMC8006362.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    75. Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun. 2021 Feb 15; 12(1):1192. Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. PMID: 33589599; PMCID: PMC7884391.
      View in: PubMed   Mentions: 1     Fields:    
    76. A Human 3D neural assembloid model for SARS-CoV-2 infection. Res Sq. 2021 Feb 12. Wang L, Sievert D, Gleeson J, Clark AE, Carlin AF, Federman H, Gastfriend BD, Shusta E, Palecek SP. PMID: 33594354; PMCID: PMC7885926.
      View in: PubMed   Mentions:
    77. Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. Sci Rep. 2021 02 11; 11(1):3639. Au KS, Hebert L, Hillman P, Baker C, Brown MR, Kim DK, Soldano K, Garrett M, Ashley-Koch A, Lee S, Gleeson J, Hixson JE, Morrison AC, Northrup H. PMID: 33574475; PMCID: PMC7878900.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    78. A Human 3D neural assembloid model for SARS-CoV-2 infection. bioRxiv. 2021 Feb 09. Wang L, Sievert D, Clark AE, Federman H, Gastfriend BD, Shusta E, Palecek SP, Carlin AF, Gleeson J. PMID: 33594369; PMCID: PMC7885921.
      View in: PubMed   Mentions:
    79. Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance. Proc Natl Acad Sci U S A. 2021 01 19; 118(3). Rapaport F, Boisson B, Gregor A, Béziat V, Boisson-Dupuis S, Bustamante J, Jouanguy E, Puel A, Rosain J, Zhang Q, Zhang SY, Gleeson JG, Quintana-Murci L, Casanova JL, Abel L, Patin E. PMID: 33408250; PMCID: PMC7826345.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    80. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia. 2021 02; 62(2):e35-e41. Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, Vona B, Rad A, Striano P, Salpietro V, Guillen Sacoto MJ, Zaki MS, Gleeson JG, Campeau PM, Russell BE, Houlden H. PMID: 33410539; PMCID: PMC7898547.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    81. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147. Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. PMID: 33340455; PMCID: PMC7820726.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    82. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nat Commun. 2020 11 30; 11(1):6087. Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, Barcia G, Lefort N, Banal C, Vasilache-Dangles MT, Pitelet G, Lorino E, Rabasse N, Bieth E, Zaki MS, Topcu M, Sonmez FM, Musaev D, Stanley V, Bole-Feysot C, Nitschké P, Munnich A, Bahi-Buisson N, Fossoud C, Giuliano F, Colleaux L, Burglen L, Gleeson JG, Boddaert N, Saiardi A, Cantagrel V. PMID: 33257696; PMCID: PMC7705663.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    83. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 01 20; 109(2):241-256.e9. Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. PMID: 33220177; PMCID: PMC8800389.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    84. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med. 2021 03; 23(3):524-533. Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, Pan D, Lübbert P, Kammerer B, Wiedemann N, Verhoeven-Duif NM, Jans JJ, Murphy D, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Ibrahim K, Waters ER, Maroofian R, Gleeson JG. PMID: 33188300.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimals
    85. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. J Med Genet. 2021 12; 58(12):815-831. De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A, SYNAPS Study Group, Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A. PMID: 33172956; PMCID: PMC8639930.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    86. Editorial overview: Neurodevelopment Diseases and Neurogenetics pivot towards mechanisms and therapies. Curr Opin Genet Dev. 2020 12; 65:iii-vii. Geschwind DH, Gleeson JG. PMID: 33176916.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    87. A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. Neurol Sci. 2021 Jul; 42(7):2737-2745. Zaki MS, Issa MY, Thomas MM, Elbendary HM, Rafat K, Al Menabawy NM, Selim LA, Ismail S, Abdel-Salam GM, Gleeson JG. PMID: 33123925.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    88. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Care4Rare Consortium, Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. PMID: 33098347; PMCID: PMC8197629.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    89. Insight into developmental mechanisms of global and focal migration disorders of cortical development. Curr Opin Neurobiol. 2021 02; 66:77-84. Castello MA, Gleeson JG. PMID: 33099181.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    90. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. PMID: 32979048; PMCID: PMC7780481.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    91. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 02; 29(2):271-279. Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Undiagnosed Diseases Network, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. PMID: 32901138; PMCID: PMC7868361.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    92. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun. 2020 08 12; 11(1):4038. Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. PMID: 32788587; PMCID: PMC7424529.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    93. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A. 2020 10; 182(10):2272-2283. Donkervoort S, Mohassel P, Laugwitz L, Zaki MS, Kamsteeg EJ, Maroofian R, Chao KR, Verschuuren-Bemelmans CC, Horber V, Fock AJM, McCarty RM, Jain MS, Biancavilla V, McMacken G, Nalls M, Voermans NC, Elbendary HM, Snyder M, Cai C, Lehky TJ, Stanley V, Iannaccone ST, Foley AR, Lochmüller H, Gleeson J, Houlden H, Haack TB, Horvath R, Bönnemann CG. PMID: 32776697; PMCID: PMC7959540.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    94. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020 08 06; 107(2):311-324. Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. PMID: 32738225; PMCID: PMC7413890.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    95. Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. Orphanet J Rare Dis. 2020 07 22; 15(1):191. Segal MM, George R, Waltman P, El-Hattab AW, James KN, Stanley V, Gleeson J. PMID: 32698834; PMCID: PMC7374885.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    96. Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair. Nat Commun. 2020 07 07; 11(1):3391. Hanzlikova H, Prokhorova E, Krejcikova K, Cihlarova Z, Kalasova I, Kubovciak J, Sachova J, Hailstone R, Brazina J, Ghosh S, Cirak S, Gleeson JG, Ahel I, Caldecott KW. PMID: 32636369; PMCID: PMC7341855.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    97. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. J Med Genet. 2021 04; 58(4):237-246. Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. PMID: 32439809; PMCID: PMC9648057.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    98. Closing in on Mechanisms of Open Neural Tube Defects. Trends Neurosci. 2020 07; 43(7):519-532. Lee S, Gleeson JG. PMID: 32423763; PMCID: PMC7321880.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    99. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics. 2020 05 13; 13(1):68. Issa MY, Chechlacz Z, Stanley V, George RD, McEvoy-Venneri J, Belandres D, Elbendary HM, Gaber KR, Nabil A, Abdel-Hamid MS, Zaki MS, Gleeson JG. PMID: 32404165; PMCID: PMC7218834.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    100. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A. 2020 05 05; 117(18):10055-10066. Wenderski W, Wang L, Krokhotin A, Walsh JJ, Li H, Shoji H, Ghosh S, George RD, Miller EL, Elias L, Gillespie MA, Son EY, Staahl BT, Baek ST, Stanley V, Moncada C, Shipony Z, Linker SB, Marchetto MCN, Gage FH, Chen D, Sultan T, Zaki MS, Ranish JA, Miyakawa T, Luo L, Malenka RC, Crabtree GR, Gleeson JG. PMID: 32312822; PMCID: PMC7211998.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    101. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain. 2020 04 01; 143(4):1114-1126. Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. PMID: 32293671; PMCID: PMC7534148.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansAnimalsCells
    102. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 04 01; 143(4):e31. Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. PMID: 32227164; PMCID: PMC7174030.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    103. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM. PMID: 32220290; PMCID: PMC7118585.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    104. Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med. 2020 06; 22(6):1040-1050. Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, Zaki MS, Sultan T, Burglen L, Rajab A, Al-Gazali L, Mochida GH, Harris MP, Gleeson JG, Walsh CA. PMID: 32103185; PMCID: PMC7272323.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimals
    105. mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 2020 Mar; 5(1):97-106. Garcia CAB, Carvalho SCS, Yang X, Ball LL, George RD, James KN, Stanley V, Breuss MW, Thomé U, Santos MV, Saggioro FP, Neder Serafini L, Silva WA, Gleeson JG, Machado HR. PMID: 32140648; PMCID: PMC7049797.
      View in: PubMed   Mentions: 7     Fields:    
    106. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med. 2020 01; 26(1):143-150. Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. PMID: 31873310; PMCID: PMC7032648.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCells
    107. Primary Cilia and Brain Wiring, Connecting the Dots. Dev Cell. 2019 12 16; 51(6):661-663. Song Q, Gleeson JG. PMID: 31951539.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    108. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 12 05; 105(6):1237-1253. Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. PMID: 31785787; PMCID: PMC6904826.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansAnimalsCells
    109. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. Hum Mol Genet. 2019 11 15; 28(22):3755-3765. Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A. PMID: 31411685; PMCID: PMC6935386.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    110. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056. Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R. PMID: 31668703; PMCID: PMC6849109.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    111. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet. 2020 04; 57(4):274-282. Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG. PMID: 31586943; PMCID: PMC7405652.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    112. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 10 03; 105(4):844-853. Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. PMID: 31585108; PMCID: PMC6817548.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    113. Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. Brain. 2019 10 01; 142(10):2965-2978. De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM. PMID: 31412107; PMCID: PMC6776115.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    114. NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs. Nucleic Acids Res. 2019 09 19; 47(16):8720-8733. Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaite L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M. PMID: 31276587; PMCID: PMC6822013.
      View in: PubMed   Mentions: 68     Fields:    Translation:HumansAnimalsCells
    115. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705. Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. PMID: 31495489; PMCID: PMC6817560.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    116. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet. 2019 09 05; 105(3):606-615. Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. PMID: 31474318; PMCID: PMC6731369.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    117. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. Am J Hum Genet. 2019 09 05; 105(3):534-548. van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA. PMID: 31422819; PMCID: PMC6732527.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    118. Cytosine-5 RNA methylation links protein synthesis to cell metabolism. PLoS Biol. 2019 06; 17(6):e3000297. Gkatza NA, Castro C, Harvey RF, Heiß M, Popis MC, Blanco S, Bornelöv S, Sajini AA, Gleeson JG, Griffin JL, West JA, Kellner S, Willis AE, Dietmann S, Frye M. PMID: 31199786; PMCID: PMC6594628.
      View in: PubMed   Mentions: 64     Fields:    Translation:HumansAnimalsCells
    119. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PLoS Genet. 2019 04; 15(4):e1008088. Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA. PMID: 31034465; PMCID: PMC6508738.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    120. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019 04 24; 11(489). Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. PMID: 31019026; PMCID: PMC9512059.
      View in: PubMed   Mentions: 114     Fields:    Translation:Humans
    121. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Am J Hum Genet. 2019 04 04; 104(4):731-737. Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS. PMID: 30905400; PMCID: PMC6451727.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    122. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019 02 12; 10(1):707. Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG. PMID: 30755602; PMCID: PMC6372641.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    123. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 03 01; 129(3):1240-1256. Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. PMID: 30620337; PMCID: PMC6391109.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansAnimalsCells
    124. Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors. Neuron. 2019 03 20; 101(6):1089-1098.e4. Li H, Saucedo-Cuevas L, Yuan L, Ross D, Johansen A, Sands D, Stanley V, Guemez-Gamboa A, Gregor A, Evans T, Chen S, Tan L, Molina H, Sheets N, Shiryaev SA, Terskikh AV, Gladfelter AS, Shresta S, Xu Z, Gleeson JG. PMID: 30713029; PMCID: PMC6690588.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    125. Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations. Clin Genet. 2019 04; 95(4):537-539. Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA. PMID: 30633340.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    126. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. Proc Natl Acad Sci U S A. 2019 01 15; 116(3):950-959. Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott EM, Stenson PD, Cunningham-Rundles C, Cooper DN, Gleeson JG, Fellay J, Quintana-Murci L, Casanova JL, Abel L, Boisson B, Itan Y. PMID: 30591557; PMCID: PMC6338851.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    127. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 05; 56(5):332-339. Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çaglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. PMID: 30487245; PMCID: PMC6581149.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    128. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018 12 03; 37(23). Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB, Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. PMID: 30420557; PMCID: PMC6276871.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansCells
    129. A newly discovered mechanism driving neuronal mutations in Alzheimer's disease. Nature. 2018 11; 563(7733):631-632. Chai G, Gleeson JG. PMID: 30478369.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    130. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018 11 01; 103(5):826. Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. PMID: 30388405; PMCID: PMC6218605.
      View in: PubMed   Mentions: 8     Fields:    
    131. Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. Ann Neurol. 2018 11; 84(5):638-647. Guemez-Gamboa A, Çaglayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG. PMID: 30178464; PMCID: PMC6510237.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    132. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet. 2018 Sep; 137(9):753-768. Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. PMID: 30167850; PMCID: PMC6671679.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    133. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018 09 06; 103(3):431-439. Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. PMID: 30100084; PMCID: PMC6128219.
      View in: PubMed   Mentions: 32     Fields:    
    134. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet. 2018 08 02; 103(2):296-304. Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG. PMID: 30032983; PMCID: PMC6080764.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    135. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 08; 50(8):1093-1101. Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. PMID: 30013181; PMCID: PMC6072555.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansAnimalsCells
    136. Paternally inherited cis-regulatory structural variants are associated with autism. Science. 2018 04 20; 360(6386):327-331. Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. PMID: 29674594; PMCID: PMC6449150.
      View in: PubMed   Mentions: 102     Fields:    Translation:HumansCells
    137. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364. Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. PMID: 29671837; PMCID: PMC6195491.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    138. Early life experience shapes neural genome. Science. 2018 03 23; 359(6382):1330-1331. Song S, Gleeson JG. PMID: 29567692.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    139. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 03; 26(3):330-339. Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. PMID: 29343805; PMCID: PMC5839044.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    140. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402. Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. PMID: 29315614; PMCID: PMC5912688.
      View in: PubMed   Mentions: 54     Fields:    Translation:Humans
    141. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 02; 101(5):856-865. Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM. PMID: 29100095; PMCID: PMC5673666.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    142. Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology. 2017 11 28; 89(22):2297-2298. Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. PMID: 29093066; PMCID: PMC5705245.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    143. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 05; 101(4):552-563. De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. PMID: 28965847; PMCID: PMC5630196.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    144. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. Am J Hum Genet. 2017 Sep 07; 101(3):441-450. Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG. PMID: 28823706; PMCID: PMC5590949.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    145. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet. 2018 01; 55(1):48-54. Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG. PMID: 28626029; PMCID: PMC6056005.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimals
    146. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM, Brain Somatic Mosaicism Network. PMID: 28450582; PMCID: PMC5558435.
      View in: PubMed   Mentions: 115     Fields:    Translation:HumansCells
    147. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688. Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E, EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. PMID: 28343629; PMCID: PMC5384096.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansAnimals
    148. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017 06; 54(6):399-403. Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. PMID: 28280135.
      View in: PubMed   Mentions: 45     Fields:    Translation:Humans
    149. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar; 49(3):457-464. Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çaglayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. PMID: 28092684; PMCID: PMC5325768.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansAnimalsCells
    150. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet. 2017 01 15; 26(2):258-269. Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. PMID: 28013290; PMCID: PMC6075555.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    151. The Neurobiology of Zika Virus. Neuron. 2016 Dec 07; 92(5):949-958. Li H, Saucedo-Cuevas L, Shresta S, Gleeson JG. PMID: 27930910.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansCells
    152. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell. 2016 Dec 01; 167(6):1481-1494.e18. Tarlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. PMID: 27912058; PMCID: PMC5554935.
      View in: PubMed   Mentions: 149     Fields:    Translation:HumansAnimalsCells
    153. DCLK1 phosphorylates the microtubule-associated protein MAP7D1 to promote axon elongation in cortical neurons. Dev Neurobiol. 2017 04; 77(4):493-510. Koizumi H, Fujioka H, Togashi K, Thompson J, Yates JR, Gleeson JG, Emoto K. PMID: 27503845.
      View in: PubMed   Mentions: 26     Fields:    Translation:AnimalsCells
    154. When size matters: CHD8 in autism. Nat Neurosci. 2016 10 26; 19(11):1430-1432. Breuss MW, Gleeson JG. PMID: 27786184.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    155. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016 Nov 03; 99(5):1181-1189. Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çaglayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG. PMID: 27773428; PMCID: PMC5097947.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    156. Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet. 2016 Oct 06; 99(4):912-916. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çaglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. PMID: 27616480; PMCID: PMC5065650.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    157. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 09 01; 99(3):785. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. PMID: 27588454; PMCID: PMC5011070.
      View in: PubMed   Mentions: 5     Fields:    
    158. Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation. Cell Stem Cell. 2016 11 03; 19(5):593-598. Li H, Saucedo-Cuevas L, Regla-Nava JA, Chai G, Sheets N, Tang W, Terskikh AV, Shresta S, Gleeson JG. PMID: 27545505; PMCID: PMC5097023.
      View in: PubMed   Mentions: 166     Fields:    Translation:AnimalsCells
    159. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. Am J Hum Genet. 2016 Aug 04; 99(2):501-10. Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çaglayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG. PMID: 27453578; PMCID: PMC4974110.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansCells
    160. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 09; 48(9):1071-6. Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG, Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG. PMID: 27428751; PMCID: PMC5019950.
      View in: PubMed   Mentions: 204     Fields:    Translation:Humans
    161. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 07; 99(1):228-35. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. PMID: 27392077; PMCID: PMC5005448.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    162. CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. Eur J Paediatr Neurol. 2016 Sep; 20(5):782-7. Kariminejad A, Schöls L, Schüle R, Tonekaboni SH, Abolhassani A, Fadaee M, Rosti RO, Gleeson JG. PMID: 27292318; PMCID: PMC5011458.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    163. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol. 2016 07; 80(1):59-70. Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. PMID: 27130255; PMCID: PMC4938747.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    164. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Hum Genet. 2016 08; 135(8):919-921. Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG. PMID: 27245168; PMCID: PMC4955754.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    165. Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol. 2016 Sep; 20(5):714-22. Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS. PMID: 27289259; PMCID: PMC4993451.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    166. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 2016 09; 53(9):608-15. Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. PMID: 27208211; PMCID: PMC5013089.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    167. Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation. Biochim Biophys Acta. 2016 Jun; 1863(6 Pt A):1307-18. Kim JH, Ki SM, Joung JG, Scott E, Heynen-Genel S, Aza-Blanc P, Kwon CH, Kim J, Gleeson JG, Lee JE. PMID: 27033521; PMCID: PMC4886714.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    168. The mutation significance cutoff: gene-level thresholds for variant predictions. Nat Methods. 2016 Feb; 13(2):109-10. Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL. PMID: 26820543; PMCID: PMC4980758.
      View in: PubMed   Mentions: 183     Fields:    Translation:HumansAnimals
    169. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A. 2016 Apr; 170A(4):992-8. Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. PMID: 27001912; PMCID: PMC5011457.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    170. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet. 2016 Jan 07; 98(1):210-5. Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. PMID: 26708753; PMCID: PMC4716667.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    171. An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nat Med. 2015 Dec; 21(12):1445-54. Baek ST, Copeland B, Yun EJ, Kwon SK, Guemez-Gamboa A, Schaffer AE, Kim S, Kang HC, Song S, Mathern GW, Gleeson JG. PMID: 26523971; PMCID: PMC4955611.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansAnimalsCells
    172. The human gene damage index as a gene-level approach to prioritizing exome variants. Proc Natl Acad Sci U S A. 2015 Nov 03; 112(44):13615-20. Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL. PMID: 26483451; PMCID: PMC4640721.
      View in: PubMed   Mentions: 137     Fields:    Translation:Humans
    173. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet. 2015 Dec 15; 24(24):6877-85. Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. PMID: 26385635; PMCID: PMC6296331.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimalsCells
    174. Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA. J Pediatr. 2015 Nov; 167(5):957-62. Kang HC, Baek ST, Song S, Gleeson JG. PMID: 26340871.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    175. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug; 17(8):1074-1087. Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, UK10K Consortium, University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. PMID: 26167768; PMCID: PMC4536769.
      View in: PubMed   Mentions: 132     Fields:    Translation:HumansAnimalsCells
    176. Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families. Am J Med Genet A. 2015 Nov; 167A(11):2503-2507. Zaki MS, Masri A, Gregor A, Gleeson JG, Rosti RO. PMID: 26109232; PMCID: PMC5011459.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    177. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, Incecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. PMID: 26026149; PMCID: PMC4477441.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    178. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet. 2015 Jul; 47(7):809-13. Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. PMID: 26005868; PMCID: PMC4547531.
      View in: PubMed   Mentions: 115     Fields:    Translation:HumansAnimalsCells
    179. Polo-like kinase 2 regulates angiogenic sprouting and blood vessel development. Dev Biol. 2015 Aug 15; 404(2):49-60. Yang H, Fang L, Zhan R, Hegarty JM, Ren J, Hsiai TK, Gleeson JG, Miller YI, Trejo J, Chi NC. PMID: 26004360; PMCID: PMC4515213.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    180. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Case Rep Pediatr. 2015; 2015:385910. Sanjeev RK, Kapoor S, Goyal M, Kapur R, Gleeson JG. PMID: 26075130; PMCID: PMC4449927.
      View in: PubMed   Mentions: 1  
    181. TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turk J Pediatr. 2015 May-Jun; 57(3):286-9. Maras-Genç H, Uyur-Yalçin E, Rosti RÖ, Gleeson JG, Kara B. PMID: 26701950; PMCID: PMC4991034.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    182. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. 2015 Nov; 23(11):1482-7. Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. PMID: 25920557; PMCID: PMC4613470.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    183. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet. 2015 May; 47(5):528-34. Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. PMID: 25848753; PMCID: PMC4414867.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansAnimalsCells
    184. Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var. 2015; 2:15001. Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L. PMID: 27082236; PMCID: PMC4785561.
      View in: PubMed   Mentions: 2  
    185. Novel STAMBP mutation and additional findings in an Arabic family. Am J Med Genet A. 2015 Apr; 167A(4):805-9. Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG. PMID: 25692795.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    186. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet. 2015 May 01; 24(9):2594-603. Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. PMID: 25616960; PMCID: PMC4383865.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    187. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 2015 Jan 07; 85(1):228. Mishra-Gorur K, Çaglayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüs GT, Nishimura S, Han W, Tu S, Baran B, Gümüs H, Dilber C, Zaki MS, Hossni HAA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çaglar C, Çaglar Ç, Dölen D, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. PMID: 29654772.
      View in: PubMed   Mentions: 4     Fields:    
    188. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 2014 Dec 17; 84(6):1226-39. Mishra-Gorur K, Çaglayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüs GT, Nishimura S, Han W, Tu S, Baran B, Gümüs H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çaglar C, Çaglar Ç, Dölen D, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. PMID: 25521378; PMCID: PMC5024344.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansAnimalsCells
    189. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Hum Mol Genet. 2015 Apr 01; 24(7):2000-10. Kumar R, Corbett MA, Smith NJ, Jolly LA, Tan C, Keating DJ, Duffield MD, Utsumi T, Moriya K, Smith KR, Hoischen A, Abbott K, Harbord MG, Compton AG, Woenig JA, Arts P, Kwint M, Wieskamp N, Gijsen S, Veltman JA, Bahlo M, Gleeson JG, Haan E, Gecz J. PMID: 25504045.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    190. Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis. Clin Genet. 2015 Jul; 88(1):95-7. Zaki MS, Selim L, Mansour L, Mahmoud IG, Fenstermaker AG, Gabriel SB, Gleeson JG. PMID: 25496456.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    191. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet. 2014 Dec 04; 95(6):721-8. Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG. PMID: 25480035; PMCID: PMC4259997.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    192. Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var. 2014; 1:14020. Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L. PMID: 27081510; PMCID: PMC4785524.
      View in: PubMed   Mentions: 20  
    193. Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene. Clin Genet. 2015 Sep; 88(3):241-7. Conti V, Pantaleo M, Barba C, Baroni G, Mei D, Buccoliero AM, Giglio S, Giordano F, Baek ST, Gleeson JG, Guerrini R. PMID: 25091978.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    194. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics. 2014 Dec; 45(6):386-93. Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI. PMID: 25243380.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    195. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis. 2015 Jun; 30(3):687-94. Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L. PMID: 25227173; PMCID: PMC4915861.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    196. Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis. J Child Neurol. 2015 Jun; 30(7):881-8. Segal MM, Abdellateef M, El-Hattab AW, Hilbush BS, De La Vega FM, Tromp G, Williams MS, Betensky RA, Gleeson J. PMID: 25156663; PMCID: PMC4339658.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    197. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Eur J Hum Genet. 2015 May; 23(5):621-7. Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T. PMID: 25138100; PMCID: PMC4402632.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansAnimalsCells
    198. Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. EMBO J. 2014 Sep 17; 33(18):2020-39. Blanco S, Dietmann S, Flores JV, Hussain S, Kutter C, Humphreys P, Lukk M, Lombard P, Treps L, Popis M, Kellner S, Hölter SM, Garrett L, Wurst W, Becker L, Klopstock T, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Káradóttir RT, Helm M, Ule J, Gleeson JG, Odom DT, Frye M. PMID: 25063673; PMCID: PMC4195770.
      View in: PubMed   Mentions: 319     Fields:    Translation:HumansAnimalsCells
    199. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron. 2014 Jun 18; 82(6):1255-1262. Baek ST, Kerjan G, Bielas SL, Lee JE, Fenstermaker AG, Novarino G, Gleeson JG. PMID: 24945770; PMCID: PMC4086250.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansAnimalsCells
    200. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia. 2014 Jul; 55(7):970-8. Marin-Valencia I, Guerrini R, Gleeson JG. PMID: 24861491; PMCID: PMC4107035.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    201. Primary cilia in the developing and mature brain. Neuron. 2014 May 07; 82(3):511-21. Guemez-Gamboa A, Coufal NG, Gleeson JG. PMID: 24811376; PMCID: PMC4104280.
      View in: PubMed   Mentions: 144     Fields:    Translation:HumansAnimalsCells
    202. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014 Apr 24; 157(3):651-63. Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. PMID: 24766810; PMCID: PMC4128918.
      View in: PubMed   Mentions: 144     Fields:    Translation:HumansAnimalsCells
    203. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug; 133(8):1023-39. Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. PMID: 24748105; PMCID: PMC4415612.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCells
    204. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Differentiation. 2014 Mar-Apr; 87(3-4):134-146. Romani S, Illi B, De Mori R, Savino M, Gleeson JG, Valente EM. PMID: 24613594; PMCID: PMC4355919.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    205. Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene. 2014 Apr 15; 539(2):279-82. Ismail S, Schaffer AE, Rosti RO, Gleeson JG, Zaki MS. PMID: 24530477; PMCID: PMC5226855.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    206. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31; 343(6170):506-511. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. PMID: 24482476; PMCID: PMC4157572.
      View in: PubMed   Mentions: 259     Fields:    Translation:HumansAnimalsCells
    207. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat. 2014 Jan; 35(1):137-46. Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T. PMID: 24166846; PMCID: PMC3946372.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansAnimalsCells
    208. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 2014 Jan 02; 94(1):80-6. Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. PMID: 24360807; PMCID: PMC3882909.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    209. Primary cilia in neurodevelopmental disorders. Nat Rev Neurol. 2014 Jan; 10(1):27-36. Valente EM, Rosti RO, Gibbs E, Gleeson JG. PMID: 24296655; PMCID: PMC3989897.
      View in: PubMed   Mentions: 124     Fields:    Translation:HumansCells
    210. The sacred disease: the puzzling genetics of epileptic disorders. Neuron. 2013 Oct 02; 80(1):9-11. Novarino G, Baek ST, Gleeson JG. PMID: 24094099; PMCID: PMC3984878.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    211. The genetic landscape of autism spectrum disorders. Dev Med Child Neurol. 2014 Jan; 56(1):12-8. Rosti RO, Sadek AA, Vaux KK, Gleeson JG. PMID: 24116704.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    212. Virmid: accurate detection of somatic mutations with sample impurity inference. Genome Biol. 2013 Aug 29; 14(8):R90. Kim S, Jeong K, Bhutani K, Lee J, Patel A, Scott E, Nam H, Lee H, Gleeson JG, Bafna V. PMID: 23987214; PMCID: PMC4054681.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    213. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013 Aug 01; 154(3):505-17. Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. PMID: 23911318; PMCID: PMC3815927.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansAnimalsCells
    214. Neurophysiologic characterization of motor and sensory projections in Joubert syndrome. Clin Neurophysiol. 2013 Nov; 124(11):2283-4. Théoret H, Gleeson J, Pascual-Leone A. PMID: 23906682; PMCID: PMC4159606.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    215. NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs. Cell Rep. 2013 Jul 25; 4(2):255-61. Hussain S, Sajini AA, Blanco S, Dietmann S, Lombard P, Sugimoto Y, Paramor M, Gleeson JG, Odom DT, Ule J, Frye M. PMID: 23871666; PMCID: PMC3730056.
      View in: PubMed   Mentions: 282     Fields:    Translation:HumansAnimalsCells
    216. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. 2013 Jul; 161A(7):1523-30. Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. PMID: 23704059; PMCID: PMC3689850.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    217. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Curr Opin Neurol. 2013 Apr; 26(2):122-7. Baek ST, Gibbs EM, Gleeson JG, Mathern GW. PMID: 23449172.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    218. CCDC41 is required for ciliary vesicle docking to the mother centriole. Proc Natl Acad Sci U S A. 2013 Apr 09; 110(15):5987-92. Joo K, Kim CG, Lee MS, Moon HY, Lee SH, Kim MJ, Kweon HS, Park WY, Kim CH, Gleeson JG, Kim J. PMID: 23530209; PMCID: PMC3625310.
      View in: PubMed   Mentions: 87     Fields:    Translation:HumansAnimalsCells
    219. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74. Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. PMID: 23472759; PMCID: PMC3591846.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansCells
    220. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 07; 92(3):392-400. Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. PMID: 23453666; PMCID: PMC3591854.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    221. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct; 21(10):1074-8. Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. PMID: 23386033; PMCID: PMC3778343.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    222. Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation. Nat Commun. 2013; 4:1440. Shin E, Kashiwagi Y, Kuriu T, Iwasaki H, Tanaka T, Koizumi H, Gleeson JG, Okabe S. PMID: 23385585; PMCID: PMC4017031.
      View in: PubMed   Mentions: 53     Fields:    Translation:AnimalsCells
    223. Can't get there from here: cilia and hydrocephalus. Nat Med. 2012 Dec; 18(12):1742-3. Sotak BN, Gleeson JG. PMID: 23223060.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    224. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet. 2012 Dec 07; 91(6):1051-64. Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. PMID: 23176821; PMCID: PMC3516610.
      View in: PubMed   Mentions: 95     Fields:    Translation:HumansCells
    225. Joubert syndrome: report of 11 cases. Turk J Pediatr. 2012 Nov-Dec; 54(6):605-11. Incecik F, Hergüner MÖ, Altunbasak S, Gleeson JG. PMID: 23692786; PMCID: PMC4442635.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    226. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). Am J Med Genet A. 2012 Nov; 158A(11):2788-96. Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG. PMID: 22991235; PMCID: PMC3477270.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    227. A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. BMC Med Genet. 2012 Sep 14; 13:80. Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L. PMID: 22973972; PMCID: PMC3495048.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    228. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19; 338(6105):394-7. Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. PMID: 22956686; PMCID: PMC3704165.
      View in: PubMed   Mentions: 137     Fields:    Translation:HumansAnimalsCells
    229. Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology. 2012 Aug 28; 79(9):946-8. Friedman J, Olvera J, Silhavy JL, Gabriel SB, Gleeson JG. PMID: 22895590; PMCID: PMC3425846.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    230. Neurodevelopment and disease. Curr Opin Neurobiol. 2012 Oct; 22(5):735-6. Gleeson JG, Polleux F. PMID: 22889697.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    231. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012 Aug 03; 150(3):533-48. Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. PMID: 22863007; PMCID: PMC3433835.
      View in: PubMed   Mentions: 223     Fields:    Translation:HumansAnimalsCells
    232. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. J Child Neurol. 2013 May; 28(5):651-7. Kariminejad A, Radmanesh F, Rezayi AR, Tonekaboni SH, Gleeson JG. PMID: 22859694.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    233. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug; 135(Pt 8):2416-27. Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. PMID: 22822038; PMCID: PMC3407423.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    234. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012 Jun 24; 44(8):941-5. Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. PMID: 22729223; PMCID: PMC4417942.
      View in: PubMed   Mentions: 299     Fields:    Translation:HumansCells
    235. Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med. 2012 Jun 13; 4(138):138ra78. Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG. PMID: 22700954; PMCID: PMC4442637.
      View in: PubMed   Mentions: 141     Fields:    Translation:Humans
    236. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis. 2012 May 15; 7:27. Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L. PMID: 22587682; PMCID: PMC3492204.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    237. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet. 2012 Jun; 49(6):380-5. Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, Frye M, Al-Gazali L, Gleeson JG. PMID: 22577224; PMCID: PMC4771841.
      View in: PubMed   Mentions: 120     Fields:    Translation:HumansAnimalsCells
    238. The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. J Child Neurol. 2013 Mar; 28(3):379-83. Sonmez FM, Gleeson JG, Celep F, Kul S. PMID: 22532556; PMCID: PMC4442636.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    239. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012 Apr 06; 90(4):685-8. Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. PMID: 22444671; PMCID: PMC3322218.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    240. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science. 2012 Feb 24; 335(6071):966-9. Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG. PMID: 22282472; PMCID: PMC3671610.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansAnimalsCells
    241. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012 Jan 15; 44(2):193-9. Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. PMID: 22246503; PMCID: PMC3267856.
      View in: PubMed   Mentions: 109     Fields:    Translation:HumansAnimalsCells
    242. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet A. 2011 Dec; 155A(12):3035-41. Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. PMID: 22002884; PMCID: PMC3415795.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    243. Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. Am J Med Genet A. 2011 Dec; 155A(12):3042-9. Zaki MS, Sattar S, Massoudi RA, Gleeson JG. PMID: 22002901; PMCID: PMC3415794.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    244. Modeling human disease in humans: the ciliopathies. Cell. 2011 Sep 30; 147(1):70-9. Novarino G, Akizu N, Gleeson JG. PMID: 21962508; PMCID: PMC3202432.
      View in: PubMed   Mentions: 94     Fields:    Translation:HumansAnimalsCells
    245. A systems-biology approach to understanding the ciliopathy disorders. Genome Med. 2011 Sep 26; 3(9):59. Lee JE, Gleeson JG. PMID: 21943201; PMCID: PMC3239234.
      View in: PubMed   Mentions: 52     Fields:    
    246. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet. 2011 Jul 15; 89(1):15-27. Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K. PMID: 21763480; PMCID: PMC3135799.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansCells
    247. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 2011 Sep; 53(9):793-798. Sattar S, Gleeson JG. PMID: 21679365; PMCID: PMC3984879.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansCells
    248. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011 Jun; 17(6):726-31. Lancaster MA, Gopal DJ, Kim J, Saleem SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG. PMID: 21623382; PMCID: PMC3110639.
      View in: PubMed   Mentions: 91     Fields:    Translation:HumansAnimalsCells
    249. Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol. 2011 Jun; 13(6):700-7. Lancaster MA, Schroth J, Gleeson JG. PMID: 21602792; PMCID: PMC3107376.
      View in: PubMed   Mentions: 152     Fields:    Translation:HumansAnimalsCells
    250. Function follows form: understanding brain function from a genetic perspective. Curr Opin Genet Dev. 2011 Jun; 21(3):237-9. Marín O, Gleeson JG. PMID: 21536429; PMCID: PMC4902653.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    251. Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol. 2011 Apr; 24(2):98-105. Lee JE, Gleeson JG. PMID: 21386674; PMCID: PMC3984876.
      View in: PubMed   Mentions: 98     Fields:    Translation:HumansCells
    252. Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity. BMC Biotechnol. 2011 Mar 02; 11:20. Butko MT, Drobizhev M, Makarov NS, Rebane A, Brinkman BC, Gleeson JG. PMID: 21366923; PMCID: PMC3062589.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    253. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82. Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. PMID: 21263138; PMCID: PMC3034417.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    254. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96. Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. PMID: 21258341; PMCID: PMC3071301.
      View in: PubMed   Mentions: 197     Fields:    Translation:HumansAnimalsCells
    255. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. Eur J Med Genet. 2011 Jan-Feb; 54(1):82-5. Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS. PMID: 20971220; PMCID: PMC3073376.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    256. Genetic regulation of human brain development: lessons from Mendelian diseases. Ann N Y Acad Sci. 2010 Dec; 1214:156-67. Dixon-Salazar TJ, Gleeson JG. PMID: 21062301; PMCID: PMC4915827.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    257. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov; 133(11):3210-20. Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Körner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ. PMID: 20852264; PMCID: PMC6276930.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
    258. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23; 142(2):203-17. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. PMID: 20637498; PMCID: PMC2940322.
      View in: PubMed   Mentions: 138     Fields:    Translation:HumansAnimalsCells
    259. Cystic kidney disease: the role of Wnt signaling. Trends Mol Med. 2010 Aug; 16(8):349-60. Lancaster MA, Gleeson JG. PMID: 20576469; PMCID: PMC2919646.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansAnimalsCells
    260. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010 Jul; 42(7):619-25. Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG. PMID: 20512146; PMCID: PMC2894012.
      View in: PubMed   Mentions: 165     Fields:    Translation:HumansAnimalsCells
    261. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat. 2010 May; 31(5):E1319-31. Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P, International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. PMID: 20232449; PMCID: PMC2918781.
      View in: PubMed   Mentions: 52     Fields:    Translation:Humans
    262. Functional genomic screen for modulators of ciliogenesis and cilium length. Nature. 2010 Apr 15; 464(7291):1048-51. Kim J, Lee JE, Heynen-Genel S, Suyama E, Ono K, Lee K, Ideker T, Aza-Blanc P, Gleeson JG. PMID: 20393563; PMCID: PMC2929961.
      View in: PubMed   Mentions: 309     Fields:    Translation:HumansCells
    263. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010 Mar; 120(3):791-802. O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Jackson P, Khanna H, Katsanis N, Hildebrandt F. PMID: 20179356; PMCID: PMC2827951.
      View in: PubMed   Mentions: 70     Fields:    Translation:HumansAnimalsCells
    264. The role of primary cilia in neuronal function. Neurobiol Dis. 2010 May; 38(2):167-72. Lee JH, Gleeson JG. PMID: 20097287; PMCID: PMC2953617.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansAnimalsCells
    265. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet. 2010 Feb; 42(2):175-80. Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. PMID: 20081859; PMCID: PMC2884967.
      View in: PubMed   Mentions: 119     Fields:    Translation:HumansAnimalsCells
    266. Sun proteins enlighten nuclear movement in development. Neuron. 2009 Oct 29; 64(2):147-9. Koizumi H, Gleeson JG. PMID: 19874779; PMCID: PMC4340071.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    267. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. PMID: 19764032; PMCID: PMC4340070.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    268. The molecular and genetic mechanisms of neocortex development. Clin Perinatol. 2009 Sep; 36(3):503-12. Diaz AL, Gleeson JG. PMID: 19732610; PMCID: PMC2771632.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    269. Aurora A moonlights in neurite extension. Nat Cell Biol. 2009 Sep; 11(9):1053-4. Lefkowitz GK, Gleeson JG. PMID: 19724260; PMCID: PMC4902652.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    270. Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med. 2009 Sep; 15(9):1046-54. Lancaster MA, Louie CM, Silhavy JL, Sintasath L, Decambre M, Nigam SK, Willert K, Gleeson JG. PMID: 19718039; PMCID: PMC2895985.
      View in: PubMed   Mentions: 108     Fields:    Translation:AnimalsCells
    271. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet. 2009 Sep; 41(9):1032-6. Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. PMID: 19668216; PMCID: PMC2746682.
      View in: PubMed   Mentions: 227     Fields:    Translation:HumansAnimalsCells
    272. Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. Am J Med Genet A. 2009 Aug; 149A(8):1789-94. Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. PMID: 19610102; PMCID: PMC4902654.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    273. The primary cilium as a cellular signaling center: lessons from disease. Curr Opin Genet Dev. 2009 Jun; 19(3):220-9. Lancaster MA, Gleeson JG. PMID: 19477114; PMCID: PMC2953615.
      View in: PubMed   Mentions: 91     Fields:    Translation:HumansAnimalsCells
    274. Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures. Proc Natl Acad Sci U S A. 2009 Apr 21; 106(16):6766-71. Kerjan G, Koizumi H, Han EB, Dubé CM, Djakovic SN, Patrick GN, Baram TZ, Heinemann SF, Gleeson JG. PMID: 19342486; PMCID: PMC2672532.
      View in: PubMed   Mentions: 42     Fields:    Translation:AnimalsCells
    275. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat. 2009 Feb; 30(2):E432-42. Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group. PMID: 19058225; PMCID: PMC2635428.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    276. Moving neurons back into place. Nat Med. 2009 Jan; 15(1):17-8. Kerjan G, Gleeson JG. PMID: 19129774; PMCID: PMC2692948.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    277. Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum Mol Genet. 2008 Dec 15; 17(24):3887-96. Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH. PMID: 18782849; PMCID: PMC2638573.
      View in: PubMed   Mentions: 54     Fields:    Translation:Humans
    278. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet. 2008 Dec 01; 17(23):3796-805. Kim J, Krishnaswami SR, Gleeson JG. PMID: 18772192; PMCID: PMC2722899.
      View in: PubMed   Mentions: 179     Fields:    Translation:HumansCells
    279. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9. Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG. PMID: 18674751; PMCID: PMC2495072.
      View in: PubMed   Mentions: 202     Fields:    Translation:HumansAnimalsCells
    280. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug; 74(2):164-70. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. PMID: 18565097; PMCID: PMC2752690.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    281. Cerebellar development and disease. Curr Opin Neurobiol. 2008 Feb; 18(1):12-9. Millen KJ, Gleeson JG. PMID: 18513948; PMCID: PMC2474776.
      View in: PubMed   Mentions: 79     Fields:    Translation:HumansAnimalsCells
    282. Stems cells and regeneration: special review issue. Hum Mol Genet. 2008 Apr 15; 17(R1):R1-2. Reijo Pera RA, Gleeson JG. PMID: 18632689; PMCID: PMC4489689.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    283. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008 Feb 12; 70(7):556-65. Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. PMID: 18268248.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    284. FIB Fabrication of Metallic Nanostructures on End-Faces of Optical Fibers for Chemical Sensing Applications. J Vac Sci Technol B Microelectron Nanometer Struct Process Meas Phenom. 2008; 26(6):2168-2173. Dhawan A, Muth JF, Leonard DN, Gerhold MD, Gleeson J, Vo-Dinh T, Russell PE. PMID: 23976838; PMCID: PMC3748961.
      View in: PubMed   Mentions: 8  
    285. Subcortical laminar (band) heterotopia. Handb Clin Neurol. 2008; 87:191-204. Tanaka T, Gleeson JG. PMID: 18809026.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    286. Acute-phase and 1-year follow-up results of a randomized controlled trial of CBT versus Befriending for first-episode psychosis: the ACE project. Psychol Med. 2008 May; 38(5):725-35. Jackson HJ, McGorry PD, Killackey E, Bendall S, Allott K, Dudgeon P, Gleeson J, Johnson T, Harrigan S. PMID: 18005494.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    287. A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration. Genes Dev. 2007 Nov 15; 21(22):2850-4. Kerjan G, Gleeson JG. PMID: 18006681.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    288. Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet. 2007 Dec; 23(12):623-30. Kerjan G, Gleeson JG. PMID: 17997185.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansAnimalsCells
    289. Classifying a novel brain malformation. Brain. 2007 Sep; 130(Pt 9):2242-4. Harbert MJ, Gleeson JG. PMID: 17711979.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    290. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul; 81(1):104-13. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B, International JSRD Study Group, Valente EM, Gleeson JG. PMID: 17564967; PMCID: PMC1950920.
      View in: PubMed   Mentions: 72     Fields:    Translation:Humans
    291. Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist. Cell. 2007 May 04; 129(3):579-91. Bielas SL, Serneo FF, Chechlacz M, Deerinck TJ, Perkins GA, Allen PB, Ellisman MH, Gleeson JG. PMID: 17482550; PMCID: PMC1920181.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansAnimalsCells
    292. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 01; 143A(9):939-44. Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. PMID: 17431900.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    293. The centrosome in neuronal development. Trends Neurosci. 2007 Jun; 30(6):276-83. Higginbotham HR, Gleeson JG. PMID: 17420058.
      View in: PubMed   Mentions: 106     Fields:    Translation:HumansAnimalsCells
    294. The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development. Cereb Cortex. 2006 Jul; 16 Suppl 1:i69-73. Tanaka T, Koizumi H, Gleeson JG. PMID: 16766710.
      View in: PubMed   Mentions: 22     Fields:    Translation:AnimalsCells
    295. Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain. Nat Neurosci. 2006 Jun; 9(6):779-86. Koizumi H, Higginbotham H, Poon T, Tanaka T, Brinkman BC, Gleeson JG. PMID: 16699506.
      View in: PubMed   Mentions: 95     Fields:    Translation:AnimalsCells
    296. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun; 38(6):623-5. Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG. PMID: 16682970.
      View in: PubMed   Mentions: 205     Fields:    Translation:HumansAnimalsCells
    297. GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):118-32. Higginbotham H, Tanaka T, Brinkman BC, Gleeson JG. PMID: 16682216.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimalsCells
    298. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34. Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG, International JSRD Study Group. PMID: 16453322.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansAnimals
    299. Coupling of cell migration with neurogenesis by proneural bHLH factors. Proc Natl Acad Sci U S A. 2006 Jan 31; 103(5):1319-24. Ge W, He F, Kim KJ, Blanchi B, Coskun V, Nguyen L, Wu X, Zhao J, Heng JI, Martinowich K, Tao J, Wu H, Castro D, Sobeih MM, Corfas G, Gleeson JG, Greenberg ME, Guillemot F, Sun YE. PMID: 16432194; PMCID: PMC1345712.
      View in: PubMed   Mentions: 92     Fields:    Translation:AnimalsCells
    300. Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration. Neuron. 2006 Jan 05; 49(1):55-66. Koizumi H, Tanaka T, Gleeson JG. PMID: 16387639.
      View in: PubMed   Mentions: 129     Fields:    Translation:AnimalsCells
    301. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet. 2005 Oct 15; 14 Spec No. 2:R235-42. Louie CM, Gleeson JG. PMID: 16244321.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    302. Nucleokinesis in neuronal migration. Neuron. 2005 May 05; 46(3):383-8. Tsai LH, Gleeson JG. PMID: 15882636.
      View in: PubMed   Mentions: 155     Fields:    Translation:HumansAnimalsCells
    303. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 2005 Apr; 57(4):513-9. Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. PMID: 15786477.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    304. Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr. 2004 Nov; 145(5):693-7. Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG. PMID: 15520782.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    305. Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron. 2004 Oct 14; 44(2):263-77. Shu T, Ayala R, Nguyen MD, Xie Z, Gleeson JG, Tsai LH. PMID: 15473966.
      View in: PubMed   Mentions: 179     Fields:    Translation:AnimalsCells
    306. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet. 2004 Dec; 75(6):979-87. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. PMID: 15467982; PMCID: PMC1182159.
      View in: PubMed   Mentions: 142     Fields:    Translation:HumansCells
    307. Autism in several members of a family with generalized epilepsy with febrile seizures plus. J Child Neurol. 2004 Aug; 19(8):597-603. Dixon-Salazar TJ, Keeler LC, Trauner DA, Gleeson JG. PMID: 15605469.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    308. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol. 2004 Jun 07; 165(5):709-21. Tanaka T, Serneo FF, Higgins C, Gambello MJ, Wynshaw-Boris A, Gleeson JG. PMID: 15173193; PMCID: PMC2172383.
      View in: PubMed   Mentions: 195     Fields:    Translation:AnimalsCells
    309. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul; 75(1):82-91. Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. PMID: 15138899; PMCID: PMC1182011.
      View in: PubMed   Mentions: 106     Fields:    Translation:HumansCells
    310. Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells. Transgenic Res. 2004 Apr; 13(2):155-64. Higginbotham H, Bielas S, Tanaka T, Gleeson JG. PMID: 15198203.
      View in: PubMed   Mentions: 68     Fields:    Translation:AnimalsCells
    311. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. J Child Neurol. 2004 Mar; 19(3):227-31. Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG. PMID: 15119486.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    312. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2004 03 01; 125A(2):125-34; discussion 117. Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM, Maria BL, Barkovich AJ, Dobyns WB. PMID: 14981712.
      View in: PubMed   Mentions: 82     Fields:    Translation:Humans
    313. Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration. Neuron. 2004 Jan 22; 41(2):215-27. Tanaka T, Serneo FF, Tseng HC, Kulkarni AB, Tsai LH, Gleeson JG. PMID: 14741103.
      View in: PubMed   Mentions: 92     Fields:    Translation:HumansAnimalsCells
    314. Cortical neuronal migration mutants suggest separate but intersecting pathways. Annu Rev Cell Dev Biol. 2004; 20:593-618. Bielas S, Higginbotham H, Koizumi H, Tanaka T, Gleeson JG. PMID: 15473853.
      View in: PubMed   Mentions: 54     Fields:    Translation:AnimalsCells
    315. Cytoskeletal-associated proteins in the migration of cortical neurons. J Neurobiol. 2004 Jan; 58(1):149-59. Bielas SL, Gleeson JG. PMID: 14598377.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    316. Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. J Med Genet. 2003 Dec; 40(12):e128. Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. PMID: 14684696; PMCID: PMC1735351.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    317. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet. 2003 Sep; 73(3):656-62. Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG. PMID: 12917796; PMCID: PMC1180691.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    318. Is mental retardation a defect of synapse structure and function? Pediatr Neurol. 2003 Jul; 29(1):11-7. Chechlacz M, Gleeson JG. PMID: 13679116.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    319. Multiple dose-dependent effects of Lis1 on cerebral cortical development. J Neurosci. 2003 Mar 01; 23(5):1719-29. Gambello MJ, Darling DL, Yingling J, Tanaka T, Gleeson JG, Wynshaw-Boris A. PMID: 12629176; PMCID: PMC6741979.
      View in: PubMed   Mentions: 80     Fields:    Translation:AnimalsCells
    320. Another double trouble. Silent carriers of doublecortin mutations. Neurology. 2003 Jan 28; 60(2):164-5. Gleeson JG. PMID: 12552026.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    321. Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement. Cereb Cortex. 2002 Dec; 12(12):1225-36. Meyer G, Perez-Garcia CG, Gleeson JG. PMID: 12427674.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    322. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 2002 Nov; 125(Pt 11):2507-22. D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E. PMID: 12390976.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    323. Neuronal migration disorders. Ment Retard Dev Disabil Res Rev. 2001; 7(3):167-71. Gleeson JG. PMID: 11553932.
      View in: PubMed   Mentions: 13     Fields:    Translation:Cells
    324. DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. J Neurosci. 2000 Dec 15; 20(24):9152-61. Lin PT, Gleeson JG, Corbo JC, Flanagan L, Walsh CA. PMID: 11124993; PMCID: PMC6773030.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansAnimalsCells
    325. Genetics of brain development and malformation syndromes. Curr Opin Pediatr. 2000 Dec; 12(6):523-8. Tanaka T, Gleeson JG. PMID: 11106269.
      View in: PubMed   Mentions: 2  Translation:Humans
    326. Patient mutations in doublecortin define a repeated tubulin-binding domain. J Biol Chem. 2000 Nov 03; 275(44):34442-50. Taylor KR, Holzer AK, Bazan JF, Walsh CA, Gleeson JG. PMID: 10946000.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansAnimalsCells
    327. Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends Neurosci. 2000 Aug; 23(8):352-9. Gleeson JG, Walsh CA. PMID: 10906798.
      View in: PubMed   Mentions: 102     Fields:    Translation:HumansAnimalsCells
    328. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81. Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. PMID: 10915612; PMCID: PMC1287517.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    329. Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. Curr Opin Neurol. 2000 Apr; 13(2):121-5. Gleeson JG. PMID: 10987567.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    330. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9. Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. PMID: 10665503.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    331. Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. J Neurol. 1999 Dec; 246(12):1177-80. Illarioshkin SN, Allen KM, Gleeson JG, Tsuji S, Ikeuchi T, Markova ED, Walsh CA, Ivanova-Smolenskaya IA. PMID: 10653312.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    332. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Jul 22; 53(2):270-7. Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. PMID: 10430413.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    333. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 1999 Jun; 23(2):257-71. Gleeson JG, Lin PT, Flanagan LA, Walsh CA. PMID: 10399933.
      View in: PubMed   Mentions: 504     Fields:    Translation:HumansAnimalsCells
    334. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53. Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al. PMID: 9989615.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansCells
    335. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37. Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. PMID: 9817918.
      View in: PubMed   Mentions: 102     Fields:    Translation:HumansCells
    336. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet. 1998 Sep; 20(1):25-30. Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA. PMID: 9731525.
      View in: PubMed   Mentions: 151     Fields:    Translation:HumansAnimalsCells
    337. A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3. Genomics. 1998 Sep 01; 52(2):214-8. Allen KM, Gleeson JG, Shoup SM, Walsh CA. PMID: 9782089.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    338. Cyclosporin A acute encephalopathy and seizure syndrome in childhood: clinical features and risk of seizure recurrence. J Child Neurol. 1998 Jul; 13(7):336-44. Gleeson JG, duPlessis AJ, Barnes PD, Riviello JJ. PMID: 9701483.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    339. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 09; 92(1):63-72. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. PMID: 9489700.
      View in: PubMed   Mentions: 288     Fields:    Translation:HumansCells
    340. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet. 1997 Apr; 6(4):555-62. Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. PMID: 9097958.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    341. Pneumocystis carinii pneumonia treated with eflornithine in AIDS patients resistant to conventional therapy. AIDS. 1990 Oct; 4(10):1019-21. Smith D, Davies S, Nelson M, Youle M, Gleeson J, Gazzard B. PMID: 2261116.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    342. Aminophylline dosage in acute severe asthma. Eur J Pediatr. 1989 Apr; 148(6):577-8. Gleeson JG, Price JF. PMID: 2744023.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    343. Intrinsic perturbing ability of alkanols in lipid bilayers. Biochim Biophys Acta. 1978 May 04; 509(1):1-8. Jain MK, Gleeson J, Upreti A, Upreti GC. PMID: 647001.
      View in: PubMed   Mentions: 17     Fields:    
    Joseph's Networks
    Concepts (994)
    Derived automatically from this person's publications.
    Explore
    _
    Co-Authors (97)
    People in Profiles who have published with this person.
    Explore
    _
    Similar People (60)
    People who share similar concepts with this person.
    Explore
    _
    Same Department
    Search Department
    _

    UCSD Profiles is managed by the UC San Diego Altman Clinical and Translational Research Institute (ACTRI).
    This site is running Profiles RNS version UCSF-v3.1.0-6-g69de2244 on PROFILES-PWEB04. We use cookies to operate our website. We also use cookies to analyze our site’s performance and improve your experience on our site. For more information about how we use cookies, please see our Website Terms of Use.

    Copyright © The Regents of the University of California