Loading...

Joseph Gleeson

Title(s)Professor, Neurosciences
SchoolHealth Sciences
Address9500 Gilman Drive #0752
La Jolla CA 92093
Phone858-246-0524
vCardDownload vCard

    Collapse Research 
    Collapse Research Activities and Funding
    Molecular basis of Zika-induced microcephaly
    NIH/NINDS R01NS106387Sep 30, 2018 - Jun 30, 2023
    Role: Principal Investigator
    Molecular Characterization of Pontocerebellar Hypoplasia
    NIH/NINDS R01NS098004Aug 15, 2016 - May 31, 2021
    Role: Principal Investigator
    Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease
    NIH/NIMH U01MH108898Sep 22, 2015 - Jun 30, 2020
    Role: Principal Investigator
    Molecular characterization of Hemimegalencephaly
    NIH/NINDS R01NS083823Jul 1, 2013 - Jun 30, 2018
    Role: Principal Investigator
    Developmental Mechanisms of Human Structural Brain Defects
    NIH/NICHD P01HD070494Sep 1, 2011 - Jul 31, 2017
    Role: Principal Investigator
    Super-Resolution Imaging at the UCSD Microscopy Core
    NIH/NCRR S10RR029130Aug 16, 2010 - Aug 15, 2011
    Role: Principal Investigator
    IVEM and Image Analysis Resource
    NIH/NCRR P41RR004050Aug 13, 2009 - Mar 31, 2014
    Role: Co-Investigator
    Jouberin and Nephrocystin in Joubert Syndrome
    NIH/NINDS R01NS052455Jun 1, 2007 - Feb 28, 2016
    Role: Principal Investigator
    Patient-Oriented Research in Recessive Pediatric Brain Diseases
    NIH/NINDS K24NS057382Apr 1, 2007 - Dec 31, 2011
    Role: Principal Investigator
    Advances in Midbrain/Hindbrain Malformations
    NIH/NINDS R13NS053097Aug 1, 2005 - Jan 31, 2007
    Role: Principal Investigator
    Molecular Characterization of Joubert Syndrome
    NIH/NINDS R01NS048453Jul 1, 2004 - Jun 30, 2021
    Role: Principal Investigator
    University of California San Diego Neuroscience Microscopy Imaging Core
    NIH/NINDS P30NS047101Sep 30, 2003 - Sep 29, 2008
    Role: Principal Investigator
    Molecular Mechanisms of Neuronal Migration
    NIH/NINDS K02NS042749Jan 15, 2002 - Dec 31, 2006
    Role: Principal Investigator
    Doublecortin in Neuronal Migration
    NIH/NINDS R01NS041537Apr 1, 2001 - Feb 28, 2015
    Role: Principal Investigator
    Comprehensive Biology: Exploiting the Yeast Genome
    NIH P41RR011823Sep 30, 1996 - Jun 30, 2016
    Role: Co-Investigator
    Specialized Cancer Center Support Grant
    NIH/NCI P30CA023100Jul 1, 1996 - Sep 29, 2012
    Role: Co-Investigator

    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. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. J Med Genet. 2020 May 21. 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.
      View in: PubMed   Mentions:    Fields:    
    2. Closing in on Mechanisms of Open Neural Tube Defects. Trends Neurosci. 2020 May 15. Lee S, Gleeson JG. PMID: 32423763.
      View in: PubMed   Mentions:    Fields:    
    3. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics. 2020 May 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.
      View in: PubMed   Mentions:    Fields:    
    4. 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 Apr 20. 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.
      View in: PubMed   Mentions: 1     Fields:    
    5. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain. 2020 Apr 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.
      View in: PubMed   Mentions:    Fields:    
    6. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 Apr 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.
      View in: PubMed   Mentions:    Fields:    
    7. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    8. 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 Feb 27. 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.
      View in: PubMed   Mentions:    Fields:    
    9. 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.
      View in: PubMed   Mentions:
    10. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    11. 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
    12. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    13. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    14. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    15. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet. 2020 Apr; 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.
      View in: PubMed   Mentions:    Fields:    
    16. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    18. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    19. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    20. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    21. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    22. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    23. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    24. 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, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. PMID: 31019026.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    25. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    26. 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, 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    27. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    28. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    29. 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:    Fields:    Translation:Humans
    30. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    31. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    32. 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, 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    33. 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:    Fields:    Translation:HumansCells
    34. 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.
      View in: PubMed   Mentions:    Fields:    
    35. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    36. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    37. 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.
      View in: PubMed   Mentions: 1     Fields:    
    38. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    39. Biallelic loss of human CTNNA2, encoding aN-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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    40. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    41. 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, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. PMID: 29671837.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    42. Early life experience shapes neural genome. Science. 2018 03 23; 359(6382):1330-1331. Song S, Gleeson JG. PMID: 29567692.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    43. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    44. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    45. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    46. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    47. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    48. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    49. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimals
    50. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 Apr 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. PMID: 28450582.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    51. 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, 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.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    52. 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: 13     Fields:    Translation:Humans
    53. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    54. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    55. 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: 30     Fields:    Translation:HumansCells
    56. 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.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    57. 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: 3     Fields:    Translation:AnimalsCells
    58. 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: 2     Fields:    Translation:Humans
    59. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    60. 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.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    61. 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.
      View in: PubMed   Mentions: 1     Fields:    
    62. 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.
      View in: PubMed   Mentions: 71     Fields:    Translation:AnimalsCells
    63. 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.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    64. 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, Alkuraya FS, Casanova JL, Gleeson JG. PMID: 27428751.
      View in: PubMed   Mentions: 50     Fields:    Translation:Humans
    65. 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.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    66. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    67. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    68. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    69. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    70. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    71. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    72. 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.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansAnimals
    73. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    74. 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.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    75. 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.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    76. 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.
      View in: PubMed   Mentions: 52     Fields:    Translation:Humans
    77. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    78. 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: 3     Fields:    Translation:Humans
    79. 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, 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.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    80. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    81. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    82. 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.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansAnimalsCells
    83. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    84. 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.
      View in: PubMed   Mentions:
    85. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    86. 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.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    87. 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.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimalsCells
    88. 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.
      View in: PubMed   Mentions:
    89. 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: 1     Fields:    Translation:Humans
    90. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    91. 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:    Fields:    
    92. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    93. 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:    Fields:    Translation:Humans
    94. 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: 1     Fields:    Translation:Humans
    95. 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.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    96. 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.
      View in: PubMed   Mentions:
    97. 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: 12     Fields:    Translation:HumansCells
    98. 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: 16     Fields:    Translation:Humans
    99. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    100. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    101. 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.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    102. 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.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansAnimalsCells
    103. 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.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    104. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia. 2014 Jul; 55(7):970-8. Marin-Valencia I, Guerrini R, Gleeson JG. PMID: 24861491.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    105. 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.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansAnimalsCells
    106. 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.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansAnimalsCells
    107. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    108. 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.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    109. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    110. 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.
      View in: PubMed   Mentions: 137     Fields:    Translation:HumansAnimalsCells
    111. 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.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansAnimalsCells
    112. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    113. Primary cilia in neurodevelopmental disorders. Nat Rev Neurol. 2014 Jan; 10(1):27-36. Valente EM, Rosti RO, Gibbs E, Gleeson JG. PMID: 24296655.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansCells
    114. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    115. 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: 21     Fields:    Translation:HumansCells
    116. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    117. 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.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    118. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    119. 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.
      View in: PubMed   Mentions: 99     Fields:    Translation:HumansAnimalsCells
    120. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    121. 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: 9     Fields:    Translation:Humans
    122. 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.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansAnimalsCells
    123. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    124. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    125. 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, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. PMID: 23386033.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    126. 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.
      View in: PubMed   Mentions: 21     Fields:    Translation:AnimalsCells
    127. 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: 5     Fields:    Translation:AnimalsCells
    128. 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.
      View in: PubMed   Mentions: 57     Fields:    Translation:HumansCells
    129. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    130. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    131. 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.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    132. 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.
      View in: PubMed   Mentions: 69     Fields:    Translation:HumansAnimalsCells
    133. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    134. 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
    135. 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.
      View in: PubMed   Mentions: 137     Fields:    Translation:HumansAnimalsCells
    136. 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:    Fields:    Translation:Humans
    137. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    138. 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.
      View in: PubMed   Mentions: 160     Fields:    Translation:HumansCells
    139. 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.
      View in: PubMed   Mentions: 96     Fields:    Translation:Humans
    140. 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.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    141. 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.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimalsCells
    142. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    143. 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.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCells
    144. 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.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    145. 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.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansAnimalsCells
    146. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    147. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    148. Modeling human disease in humans: the ciliopathies. Cell. 2011 Sep 30; 147(1):70-9. Novarino G, Akizu N, Gleeson JG. PMID: 21962508.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansAnimalsCells
    149. A systems-biology approach to understanding the ciliopathy disorders. Genome Med. 2011 Sep 26; 3(9):59. Lee JE, Gleeson JG. PMID: 21943201.
      View in: PubMed   Mentions: 27     Fields:    
    150. 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.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    151. 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.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansCells
    152. 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.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansAnimalsCells
    153. 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.
      View in: PubMed   Mentions: 98     Fields:    Translation:HumansAnimalsCells
    154. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    155. 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.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    156. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    157. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    158. 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, 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.
      View in: PubMed   Mentions: 146     Fields:    Translation:HumansAnimalsCells
    159. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    160. 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.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    161. 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.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    162. 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.
      View in: PubMed   Mentions: 85     Fields:    Translation:HumansAnimalsCells
    163. Cystic kidney disease: the role of Wnt signaling. Trends Mol Med. 2010 Aug; 16(8):349-60. Lancaster MA, Gleeson JG. PMID: 20576469.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansAnimalsCells
    164. 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.
      View in: PubMed   Mentions: 113     Fields:    Translation:HumansAnimalsCells
    165. 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, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. PMID: 20232449.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    166. 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.
      View in: PubMed   Mentions: 196     Fields:    Translation:HumansCells
    167. 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.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansAnimalsCells
    168. The role of primary cilia in neuronal function. Neurobiol Dis. 2010 May; 38(2):167-72. Lee JH, Gleeson JG. PMID: 20097287.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansAnimalsCells
    169. 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.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansAnimalsCells
    170. Sun proteins enlighten nuclear movement in development. Neuron. 2009 Oct 29; 64(2):147-9. Koizumi H, Gleeson JG. PMID: 19874779.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    171. 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, 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    172. The molecular and genetic mechanisms of neocortex development. Clin Perinatol. 2009 Sep; 36(3):503-12. Diaz AL, Gleeson JG. PMID: 19732610.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    173. Aurora A moonlights in neurite extension. Nat Cell Biol. 2009 Sep; 11(9):1053-4. Lefkowitz GK, Gleeson JG. PMID: 19724260.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    174. 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.
      View in: PubMed   Mentions: 82     Fields:    Translation:AnimalsCells
    175. 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.
      View in: PubMed   Mentions: 144     Fields:    Translation:HumansAnimalsCells
    176. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    177. 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.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansAnimalsCells
    178. 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.
      View in: PubMed   Mentions: 32     Fields:    Translation:AnimalsCells
    179. 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. PMID: 19058225.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    180. Moving neurons back into place. Nat Med. 2009 Jan; 15(1):17-8. Kerjan G, Gleeson JG. PMID: 19129774.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    181. 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.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    182. 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.
      View in: PubMed   Mentions: 131     Fields:    Translation:HumansCells
    183. 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, Valente EM, Woods CG, Gleeson JG. PMID: 18674751.
      View in: PubMed   Mentions: 134     Fields:    Translation:HumansAnimalsCells
    184. 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, Dallapiccola B, Gleeson JG, Valente EM. PMID: 18565097.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    185. Cerebellar development and disease. Curr Opin Neurobiol. 2008 Feb; 18(1):12-9. Millen KJ, Gleeson JG. PMID: 18513948.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansAnimalsCells
    186. Stems cells and regeneration: special review issue. Hum Mol Genet. 2008 Apr 15; 17(R1):R1-2. Reijo Pera RA, Gleeson JG. PMID: 18632689.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    187. 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: 13     Fields:    Translation:Humans
    188. Subcortical laminar (band) heterotopia. Handb Clin Neurol. 2008; 87:191-204. Tanaka T, Gleeson JG. PMID: 18809026.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    189. 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: 9     Fields:    Translation:HumansAnimalsCells
    190. 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: 44     Fields:    Translation:HumansAnimalsCells
    191. Classifying a novel brain malformation. Brain. 2007 Sep; 130(Pt 9):2242-4. Harbert MJ, Gleeson JG. PMID: 17711979.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    192. 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, Valente EM, Gleeson JG. PMID: 17564967.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    193. 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.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansAnimalsCells
    194. 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: 21     Fields:    Translation:Humans
    195. The centrosome in neuronal development. Trends Neurosci. 2007 Jun; 30(6):276-83. Higginbotham HR, Gleeson JG. PMID: 17420058.
      View in: PubMed   Mentions: 85     Fields:    Translation:HumansAnimalsCells
    196. 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: 16     Fields:    Translation:AnimalsCells
    197. 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: 76     Fields:    Translation:AnimalsCells
    198. 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, Bertini E, Dallapiccola B, Gleeson JG. PMID: 16682970.
      View in: PubMed   Mentions: 155     Fields:    Translation:HumansAnimalsCells
    199. 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: 25     Fields:    Translation:HumansAnimalsCells
    200. 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. PMID: 16453322.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimals
    201. 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.
      View in: PubMed   Mentions: 74     Fields:    Translation:AnimalsCells
    202. 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: 92     Fields:    Translation:AnimalsCells
    203. 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: 28     Fields:    Translation:HumansCells
    204. Nucleokinesis in neuronal migration. Neuron. 2005 May 05; 46(3):383-8. Tsai LH, Gleeson JG. PMID: 15882636.
      View in: PubMed   Mentions: 111     Fields:    Translation:HumansAnimalsCells
    205. 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: 28     Fields:    Translation:Humans
    206. 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: 9     Fields:    Translation:Humans
    207. 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: 145     Fields:    Translation:AnimalsCells
    208. 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.
      View in: PubMed   Mentions: 106     Fields:    Translation:HumansCells
    209. 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: 4     Fields:    Translation:Humans
    210. 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.
      View in: PubMed   Mentions: 148     Fields:    Translation:AnimalsCells
    211. 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.
      View in: PubMed   Mentions: 81     Fields:    Translation:HumansCells
    212. 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: 41     Fields:    Translation:AnimalsCells
    213. 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
    214. 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: 70     Fields:    Translation:Humans
    215. 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: 72     Fields:    Translation:HumansAnimalsCells
    216. 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: 9     Fields:    Translation:AnimalsCells
    217. 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: 43     Fields:    Translation:AnimalsCells
    218. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    219. 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.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    220. 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: 17     Fields:    Translation:HumansAnimalsCells
    221. 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.
      View in: PubMed   Mentions: 61     Fields:    Translation:AnimalsCells
    222. 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
    223. 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: 16     Fields:    Translation:HumansCells
    224. 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: 21     Fields:    Translation:HumansCells
    225. Neuronal migration disorders. Ment Retard Dev Disabil Res Rev. 2001; 7(3):167-71. Gleeson JG. PMID: 11553932.
      View in: PubMed   Mentions: 11     Fields:    Translation:Cells
    226. 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.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansAnimalsCells
    227. 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: 1     Fields:    Translation:Humans
    228. 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: 38     Fields:    Translation:HumansAnimalsCells
    229. 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: 77     Fields:    Translation:HumansAnimalsCells
    230. 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.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    231. 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: 12     Fields:    Translation:HumansCells
    232. 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: 15     Fields:    Translation:Humans
    233. 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
    234. 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: 35     Fields:    Translation:HumansCells
    235. 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: 336     Fields:    Translation:HumansAnimalsCells
    236. 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. PMID: 9989615.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    237. 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: 63     Fields:    Translation:HumansCells
    238. 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: 116     Fields:    Translation:HumansAnimalsCells
    239. 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: 3     Fields:    Translation:HumansCells
    240. 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: 9     Fields:    Translation:Humans
    241. 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: 217     Fields:    Translation:HumansCells
    242. 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: 10     Fields:    Translation:HumansCells
    243. 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
    Joseph's Networks
    Concepts (812)
    Derived automatically from this person's publications.
    _
    Co-Authors (72)
    People in Profiles who have published with this person.
    _
    Similar People (60)
    People who share similar concepts with this person.
    _
    Same Department
    Search Department
    _