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Joseph Gleeson

Title(s)Professor, Neurosciences
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Collapse Research 
    Collapse Research Activities and Funding
    Developmental Mechanisms of Human Meningomyelocele
    NIH P01HD104436Dec 1, 2020 - Nov 30, 2025
    Role: Principal Investigator
    Burden of brain somatic mosaicism in Alzheimer's disease
    NIH R21AG070462Sep 15, 2020 - Aug 31, 2022
    Role: Principal Investigator
    Molecular basis of Zika-induced microcephaly
    NIH R01NS106387Sep 30, 2018 - Jun 30, 2023
    Role: Principal Investigator
    Molecular Characterization of Pontocerebellar Hypoplasia
    NIH R01NS098004Aug 15, 2016 - May 31, 2021
    Role: Principal Investigator
    Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease
    NIH U01MH108898Sep 22, 2015 - Sep 30, 2016
    Role: Principal Investigator
    Molecular characterization of Hemimegalencephaly
    NIH R01NS083823Jul 1, 2013 - Nov 30, 2016
    Role: Principal Investigator
    Developmental Mechanisms of Human Structural Brain Defects
    NIH P01HD070494Sep 1, 2011 - Jul 31, 2017
    Role: Principal Investigator
    Super-Resolution Imaging at the UCSD Microscopy Core
    NIH S10RR029130Aug 16, 2010 - Aug 15, 2011
    Role: Principal Investigator
    Jouberin and Nephrocystin in Joubert Syndrome
    NIH R01NS052455Jun 1, 2007 - Feb 28, 2017
    Role: Principal Investigator
    Patient-Oriented Research in Recessive Pediatric Brain Diseases
    NIH K24NS057382Apr 1, 2007 - Dec 31, 2011
    Role: Principal Investigator
    Advances in Midbrain/Hindbrain Malformations
    NIH R13NS053097Aug 1, 2005 - Jan 31, 2007
    Role: Principal Investigator
    Molecular Characterization of Joubert Syndrome
    NIH R01NS048453Jul 1, 2004 - Nov 30, 2016
    Role: Principal Investigator
    University of California San Diego Neuroscience Microscopy Imaging Core
    NIH P30NS047101Sep 30, 2003 - Nov 30, 2021
    Role: Principal Investigator
    Molecular Mechanisms of Neuronal Migration
    NIH K02NS042749Jan 15, 2002 - Dec 31, 2006
    Role: Principal Investigator
    Doublecortin in Neuronal Migration
    NIH R01NS041537Apr 1, 2001 - Apr 30, 2006
    Role: Principal Investigator
    IVEM and Image Analysis Resource
    NIH P41RR004050May 15, 1997 - Dec 11, 1993
    Role: Co-Investigator
    Comprehensive Biology: Exploiting the Yeast Genome
    NIH P41RR011823Sep 30, 1996 - Jun 30, 2016
    Role: Co-Investigator
    Specialized Cancer Center Support Grant
    NIH P30CA023100Apr 1, 1978 - Nov 30, 1991
    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.
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    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. Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun. 2021 Feb 15; 12(1):1192. PMID: 33589599.
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    2. A Human 3D neural assembloid model for SARS-CoV-2 infection. Res Sq. 2021 Feb 12. PMID: 33594354.
      View in: PubMed   Mentions:
    3. Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. Sci Rep. 2021 Feb 11; 11(1):3639. PMID: 33574475.
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    4. A Human 3D neural assembloid model for SARS-CoV-2 infection. bioRxiv. 2021 Feb 09. PMID: 33594369.
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    5. Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance. Proc Natl Acad Sci U S A. 2021 Jan 19; 118(3). Rapaport F, Boisson B, Gregor A, Béziat V, Boisson-Dupuis S, Bustamante J, Jouanguy E, Puel A, Rosain J, Zhang Q, Zhang SY, Gleeson JG, Quintana-Murci L, Casanova JL, Abel L, Patin E. PMID: 33408250.
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    6. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia. 2021 Jan 07. Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, Vona B, Rad A, Striano P, Salpietro V, Guillen Sacoto MJ, Zaki MS, Gleeson JG, Campeau PM, Russell BE, Houlden H. PMID: 33410539.
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    7. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 Jan 07; 108(1):134-147. Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. PMID: 33340455.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    8. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nat Commun. 2020 11 30; 11(1):6087. Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, Barcia G, Lefort N, Banal C, Vasilache-Dangles MT, Pitelet G, Lorino E, Rabasse N, Bieth E, Zaki MS, Topcu M, Sonmez FM, Musaev D, Stanley V, Bole-Feysot C, Nitschké P, Munnich A, Bahi-Buisson N, Fossoud C, Giuliano F, Colleaux L, Burglen L, Gleeson JG, Boddaert N, Saiardi A, Cantagrel V. PMID: 33257696.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    9. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 Jan 20; 109(2):241-256.e9. Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. PMID: 33220177.
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    10. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med. 2020 Nov 14. Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, Pan D, Lübbert P, Kammerer B, Wiedemann N, Verhoeven-Duif NM, Jans JJ, Murphy D, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Ibrahim K, Waters ER, Maroofian R, Gleeson JG. PMID: 33188300.
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    11. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. J Med Genet. 2020 Nov 10. De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A, Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A. PMID: 33172956.
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    12. Editorial overview: Neurodevelopment Diseases and Neurogenetics pivot towards mechanisms and therapies. Curr Opin Genet Dev. 2020 Nov 08. Geschwind DH, Gleeson JG. PMID: 33176916.
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    13. A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. Neurol Sci. 2020 Oct 29. Zaki MS, Issa MY, Thomas MM, Elbendary HM, Rafat K, Al Menabawy NM, Selim LA, Ismail S, Abdel-Salam GM, Gleeson JG. PMID: 33123925.
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    14. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. PMID: 33098347.
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    15. Insight into developmental mechanisms of global and focal migration disorders of cortical development. Curr Opin Neurobiol. 2020 Oct 21; 66:77-84. Castello MA, Gleeson JG. PMID: 33099181.
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    16. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. PMID: 32979048.
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    17. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2020 Sep 08. Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. PMID: 32901138.
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    18. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun. 2020 08 12; 11(1):4038. PMID: 32788587.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    19. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A. 2020 10; 182(10):2272-2283. PMID: 32776697.
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    20. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020 08 06; 107(2):311-324. PMID: 32738225.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    21. Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. Orphanet J Rare Dis. 2020 07 22; 15(1):191. Segal MM, George R, Waltman P, El-Hattab AW, James KN, Stanley V, Gleeson J. PMID: 32698834.
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    22. Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair. Nat Commun. 2020 07 07; 11(1):3391. Hanzlikova H, Prokhorova E, Krejcikova K, Cihlarova Z, Kalasova I, Kubovciak J, Sachova J, Hailstone R, Brazina J, Ghosh S, Cirak S, Gleeson JG, Ahel I, Caldecott KW. PMID: 32636369.
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    23. 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.
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    24. Closing in on Mechanisms of Open Neural Tube Defects. Trends Neurosci. 2020 07; 43(7):519-532. Lee S, Gleeson JG. PMID: 32423763.
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    25. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics. 2020 05 13; 13(1):68. Issa MY, Chechlacz Z, Stanley V, George RD, McEvoy-Venneri J, Belandres D, Elbendary HM, Gaber KR, Nabil A, Abdel-Hamid MS, Zaki MS, Gleeson JG. PMID: 32404165.
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    26. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A. 2020 05 05; 117(18):10055-10066. Wenderski W, Wang L, Krokhotin A, Walsh JJ, Li H, Shoji H, Ghosh S, George RD, Miller EL, Elias L, Gillespie MA, Son EY, Staahl BT, Baek ST, Stanley V, Moncada C, Shipony Z, Linker SB, Marchetto MCN, Gage FH, Chen D, Sultan T, Zaki MS, Ranish JA, Miyakawa T, Luo L, Malenka RC, Crabtree GR, Gleeson JG. PMID: 32312822.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    27. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 04 01; 143(4):e31. Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. PMID: 32227164.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    28. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain. 2020 04 01; 143(4):1114-1126. Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. PMID: 32293671.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    29. 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
    30. 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 Jun; 22(6):1040-1050. Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, Zaki MS, Sultan T, Burglen L, Rajab A, Al-Gazali L, Mochida GH, Harris MP, Gleeson JG, Walsh CA. PMID: 32103185.
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    31. 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.
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    32. 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: 3     Fields:    Translation:HumansCells
    33. 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
    34. 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: 5     Fields:    Translation:HumansAnimalsCells
    35. 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: 2     Fields:    Translation:HumansAnimalsCells
    36. 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: 2     Fields:    Translation:Humans
    37. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet. 2020 04; 57(4):274-282. Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG. PMID: 31586943.
      View in: PubMed   Mentions: 1     Fields:    
    38. 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
    39. 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
    40. 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: 11     Fields:    Translation:HumansAnimalsCells
    41. 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: 2     Fields:    Translation:HumansCells
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    187. 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.
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    188. 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.
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    189. 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.
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    190. The role of primary cilia in neuronal function. Neurobiol Dis. 2010 May; 38(2):167-72. Lee JH, Gleeson JG. PMID: 20097287.
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    191. 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.
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    192. Sun proteins enlighten nuclear movement in development. Neuron. 2009 Oct 29; 64(2):147-9. Koizumi H, Gleeson JG. PMID: 19874779.
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    193. Expanding CEP290 mutational spectrum in ciliopathies. . 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.
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    194. The molecular and genetic mechanisms of neocortex development. Clin Perinatol. 2009 Sep; 36(3):503-12. Diaz AL, Gleeson JG. PMID: 19732610.
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    195. Aurora A moonlights in neurite extension. Nat Cell Biol. 2009 Sep; 11(9):1053-4. Lefkowitz GK, Gleeson JG. PMID: 19724260.
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    196. 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.
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    197. 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.
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    198. Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. . 2009 Aug; 149A(8):1789-94. Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. PMID: 19610102.
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    199. 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.
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    200. 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.
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    201. 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.
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    202. Moving neurons back into place. Nat Med. 2009 Jan; 15(1):17-8. Kerjan G, Gleeson JG. PMID: 19129774.
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    203. 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.
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    204. 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.
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    205. 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.
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    206. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug; 74(2):164-70. PMID: 18565097.
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    207. Cerebellar development and disease. Curr Opin Neurobiol. 2008 Feb; 18(1):12-9. Millen KJ, Gleeson JG. PMID: 18513948.
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    208. Stems cells and regeneration: special review issue. Hum Mol Genet. 2008 Apr 15; 17(R1):R1-2. Reijo Pera RA, Gleeson JG. PMID: 18632689.
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    209. 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.
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    210. Subcortical laminar (band) heterotopia. Handb Clin Neurol. 2008; 87:191-204. Tanaka T, Gleeson JG. PMID: 18809026.
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    211. 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.
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    212. Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet. 2007 Dec; 23(12):623-30. Kerjan G, Gleeson JG. PMID: 17997185.
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    213. Classifying a novel brain malformation. Brain. 2007 Sep; 130(Pt 9):2242-4. Harbert MJ, Gleeson JG. PMID: 17711979.
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    214. 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.
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    215. 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.
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    216. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. . 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.
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    218. 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.
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    219. 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.
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    220. 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.
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    221. 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.
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    222. 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.
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    223. 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.
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    224. 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.
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    225. 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.
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    226. Nucleokinesis in neuronal migration. Neuron. 2005 May 05; 46(3):383-8. Tsai LH, Gleeson JG. PMID: 15882636.
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    227. 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.
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    228. 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.
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    229. 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.
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    230. 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.
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    231. 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.
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    232. 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.
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    233. 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.
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    234. 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.
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    235. 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.
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    236. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. . 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.
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    238. Cytoskeletal-associated proteins in the migration of cortical neurons. J Neurobiol. 2004 Jan; 58(1):149-59. Bielas SL, Gleeson JG. PMID: 14598377.
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    239. 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.
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    240. 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. PMID: 14684696.
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    241. 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.
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    242. Is mental retardation a defect of synapse structure and function? Pediatr Neurol. 2003 Jul; 29(1):11-7. Chechlacz M, Gleeson JG. PMID: 13679116.
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    243. 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.
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    244. Another double trouble. Silent carriers of doublecortin mutations. Neurology. 2003 Jan 28; 60(2):164-5. Gleeson JG. PMID: 12552026.
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    245. 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.
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    246. 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.
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    247. Neuronal migration disorders. Ment Retard Dev Disabil Res Rev. 2001; 7(3):167-71. Gleeson JG. PMID: 11553932.
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