Joseph G. Gleeson, MD - Publications

Affiliations: 
Neuroscience University of California, San Diego, La Jolla, CA 

241 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nature Communications. 12: 1192. PMID 33589599 DOI: 10.1038/s41467-021-21448-1  0.48
2021 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, ... ... Gleeson JG, et al. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia. PMID 33410539 DOI: 10.1111/epi.16801  0.64
2020 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, ... ... Gleeson JG, et al. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nature Communications. 11: 6087. PMID 33257696 DOI: 10.1038/s41467-020-19919-y  0.64
2020 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, ... ... Gleeson JG, et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. PMID 33220177 DOI: 10.1016/j.neuron.2020.10.035  0.8
2020 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, ... ... Gleeson JG, et al. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33188300 DOI: 10.1038/s41436-020-01010-y  0.8
2020 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, et al. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. Journal of Medical Genetics. PMID 33172956 DOI: 10.1136/jmedgenet-2020-107015  0.64
2020 Zaki MS, Issa MY, Thomas MM, Elbendary HM, Rafat K, Al Menabawy NM, Selim LA, Ismail S, Abdel-Salam GM, Gleeson JG. A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. PMID 33123925 DOI: 10.1007/s10072-020-04843-2  0.64
2020 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, ... ... Gleeson JG, et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American Journal of Medical Genetics. Part A. PMID 33098347 DOI: 10.1002/ajmg.a.61926  0.64
2020 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, ... ... Gleeson JG, et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European Journal of Human Genetics : Ejhg. PMID 32901138 DOI: 10.1038/s41431-020-00717-5  0.64
2020 Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nature Communications. 11: 4038. PMID 32788587 DOI: 10.1038/s41467-020-17454-4  0.48
2020 Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, ... ... Gleeson JG, et al. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics. PMID 32738225 DOI: 10.1016/j.ajhg.2020.06.016  0.48
2020 Segal MM, George R, Waltman P, El-Hattab AW, James KN, Stanley V, Gleeson J. Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. Orphanet Journal of Rare Diseases. 15: 191. PMID 32698834 DOI: 10.1186/s13023-020-01461-1  0.32
2020 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. Bi-allelic variants cause delayed developmental milestones and intellectual disability. Journal of Medical Genetics. PMID 32439809 DOI: 10.1136/jmedgenet-2020-106849  0.6
2020 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. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. Bmc Medical Genomics. 13: 68. PMID 32404165 DOI: 10.1186/s12920-020-0714-1  0.64
2020 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, ... ... Gleeson JG, et al. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proceedings of the National Academy of Sciences of the United States of America. PMID 32312822 DOI: 10.1073/pnas.1908238117  0.88
2020 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, ... ... Gleeson JG, et al. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain : a Journal of Neurology. PMID 32293671 DOI: 10.1093/brain/awaa063  0.64
2020 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. mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 5: 97-106. PMID 32140648 DOI: 10.1002/epi4.12377  0.48
2020 Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Muna Al-Saffar, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, ... ... Gleeson JG, et al. Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32103185 DOI: 10.1038/s41436-020-0758-9  0.96
2019 Song Q, Gleeson JG. Primary Cilia and Brain Wiring, Connecting the Dots. Developmental Cell. 51: 661-663. PMID 31951539 DOI: 10.1016/j.devcel.2019.11.017  0.6
2019 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, ... ... Gleeson JG, et al. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine. PMID 31873310 DOI: 10.1038/s41591-019-0711-0  0.48
2019 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, ... ... Gleeson JG, et al. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 31668703 DOI: 10.1016/j.ajhg.2019.09.025  0.96
2019 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, et al. Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. Journal of Medical Genetics. PMID 31586943 DOI: 10.1136/jmedgenet-2019-106409  0.6
2019 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, ... ... Gleeson JG, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105: 844-853. PMID 31585108 DOI: 10.1016/j.ajhg.2019.08.013  0.64
2019 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, ... ... Gleeson JG, et al. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. American Journal of Human Genetics. PMID 31495489 DOI: 10.1016/j.ajhg.2019.08.006  0.64
2019 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, ... ... Gleeson JG, et al. Redefining the Etiologic Landscape of Cerebellar Malformations. American Journal of Human Genetics. PMID 31474318 DOI: 10.1016/j.ajhg.2019.07.019  1
2019 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, et al. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. American Journal of Human Genetics. PMID 31422819 DOI: 10.1016/j.ajhg.2019.07.015  0.64
2019 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, ... ... Gleeson JG, et al. Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. Brain : a Journal of Neurology. PMID 31412107 DOI: 10.1093/brain/awz247  0.36
2019 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, et al. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. Human Molecular Genetics. PMID 31411685 DOI: 10.1093/hmg/ddz194  0.48
2019 Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M. NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs. Nucleic Acids Research. PMID 31276587 DOI: 10.1093/nar/gkz559  0.44
2019 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. Cytosine-5 RNA methylation links protein synthesis to cell metabolism. Plos Biology. 17: e3000297. PMID 31199786 DOI: 10.1371/journal.pbio.3000297  0.44
2019 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, ... ... Gleeson J, et al. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Science Translational Medicine. 11. PMID 31019026 DOI: 10.1126/scitranslmed.aat6177  0.32
2019 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, ... ... Gleeson JG, et al. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. American Journal of Human Genetics. PMID 30905400 DOI: 10.1016/j.ajhg.2019.02.018  0.36
2019 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, ... ... Gleeson JG, et al. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nature Communications. 10: 707. PMID 30755602 DOI: 10.1038/s41467-018-07067-3  0.64
2019 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, ... ... Gleeson JG, et al. Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors. Neuron. PMID 30713029 DOI: 10.1016/j.neuron.2019.01.010  0.6
2019 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, ... ... Gleeson JG, et al. Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations. Clinical Genetics. PMID 30633340 DOI: 10.1111/cge.13492  0.64
2019 Pant DC, Dorboz I, Schlüter 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, ... ... Gleeson JG, et al. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. The Journal of Clinical Investigation. PMID 30620337 DOI: 10.1172/JCI123959  0.64
2018 Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, ... ... Gleeson JG, et al. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive erebellar, cular, cranioacial and enital features (COFG syndrome). Journal of Medical Genetics. PMID 30487245 DOI: 10.1136/jmedgenet-2018-105623  0.4
2018 Chai G, Gleeson JG. A newly discovered mechanism driving neuronal mutations in Alzheimer's disease. Nature. 563: 631-632. PMID 30478369 DOI: 10.1038/d41586-018-07334-9  0.8
2018 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, ... ... Gleeson JG, et al. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. The Embo Journal. PMID 30420557 DOI: 10.15252/embj.2018100540  0.48
2018 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, ... ... Gleeson JG, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. 103: 826. PMID 30388405 DOI: 10.1016/j.ajhg.2018.10.002  0.8
2018 Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, ... ... Gleeson JG, et al. Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome. Annals of Neurology. PMID 30178464 DOI: 10.1002/ana.25327  0.96
2018 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, ... ... Gleeson JG, et al. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Human Genetics. PMID 30167850 DOI: 10.1007/s00439-018-1929-5  0.64
2018 Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, ... ... Gleeson JG, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. PMID 30100084 DOI: 10.1016/j.ajhg.2018.07.010  0.8
2018 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, ... ... Gleeson JG, et al. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. American Journal of Human Genetics. PMID 30032983 DOI: 10.1016/j.ajhg.2018.06.011  0.8
2018 Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, ... ... Gleeson JG, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics. PMID 30013181 DOI: 10.1038/s41588-018-0166-0  0.88
2018 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, et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29671837 DOI: 10.1038/gim.2018.8  0.64
2018 Song S, Gleeson JG. Early life experience shapes neural genome. Science (New York, N.Y.). 359: 1330-1331. PMID 29567692 DOI: 10.1126/science.aat3977  0.88
2018 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, ... ... Gleeson JG, et al. Biallelic variants in KIF14 cause intellectual disability with microcephaly. European Journal of Human Genetics : Ejhg. PMID 29343805 DOI: 10.1038/s41431-017-0088-9  0.64
2017 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, ... ... Gleeson JG, et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics. 101: 856-865. PMID 29100095 DOI: 10.1016/j.ajhg.2017.09.020  0.8
2017 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, ... ... Gleeson JG, et al. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. American Journal of Human Genetics. PMID 28965847 DOI: 10.1016/j.ajhg.2017.08.017  0.64
2017 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, ... ... Gleeson JG, et al. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American Journal of Human Genetics. PMID 28823706 DOI: 10.1016/j.ajhg.2017.07.015  0.64
2017 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. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Journal of Medical Genetics. PMID 28626029 DOI: 10.1136/jmedgenet-2017-104627  0.96
2017 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, ... ... Gleeson JG, et al. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science (New York, N.Y.). 356. PMID 28450582 DOI: 10.1126/science.aal1641  0.96
2017 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, ... ... Gleeson JG, et al. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. American Journal of Human Genetics. PMID 28343629 DOI: 10.1016/j.ajhg.2017.03.001  0.64
2017 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, ... ... Gleeson JG, et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Journal of Medical Genetics. PMID 28280135 DOI: 10.1136/jmedgenet-2016-104237  1
2017 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, ... ... Gleeson JG, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/ng.3762  0.96
2016 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, ... ... Gleeson JG, et al. Uner Tan Syndrome Caused by a Homozygous TUBB2B Mutation Affecting Microtubule Stability. Human Molecular Genetics. PMID 28013290 DOI: 10.1093/hmg/ddw383  0.64
2016 Li H, Saucedo-Cuevas L, Shresta S, Gleeson JG. The Neurobiology of Zika Virus. Neuron. 92: 949-958. PMID 27930910 DOI: 10.1016/j.neuron.2016.11.031  0.6
2016 Tărlungeanu 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, ... ... Gleeson JG, et al. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell. 167: 1481-1494.e18. PMID 27912058 DOI: 10.1016/j.cell.2016.11.013  0.96
2016 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, Çağlayan AO, Vajsar J, ... ... Gleeson JG, et al. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. American Journal of Human Genetics. PMID 27773428 DOI: 10.1016/j.ajhg.2016.09.007  0.64
2016 Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, ... ... Gleeson JG, et al. Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. American Journal of Human Genetics. PMID 27616480 DOI: 10.1016/j.ajhg.2016.07.019  0.48
2016 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. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. American Journal of Human Genetics. 99: 785. PMID 27588454 DOI: 10.1016/j.ajhg.2016.08.009  0.64
2016 Li H, Saucedo-Cuevas L, Regla-Nava JA, Chai G, Sheets N, Tang W, Terskikh AV, Shresta S, Gleeson JG. Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation. Cell Stem Cell. PMID 27545505 DOI: 10.1016/j.stem.2016.08.005  0.8
2016 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, Çağlayan AO, ... ... Gleeson JG, et al. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal of Human Genetics. PMID 27453578 DOI: 10.1016/j.ajhg.2016.07.004  0.76
2016 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. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. American Journal of Human Genetics. 99: 228-35. PMID 27392077 DOI: 10.1016/j.ajhg.2016.05.023  0.64
2016 Kariminejad A, Schöls L, Schüle R, Tonekaboni SH, Abolhassani A, Fadaee M, Rosti RO, Gleeson JG. CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 27292318 DOI: 10.1016/j.ejpn.2016.05.013  0.32
2016 Zaki MS, Selim L, El-Bassyouni HT, Isaa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS. Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 27289259 DOI: 10.1016/j.ejpn.2016.05.011  0.64
2016 Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Human Genetics. PMID 27245168 DOI: 10.1007/s00439-016-1689-z  0.4
2016 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, ... ... Gleeson JG, et al. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics. PMID 27208211 DOI: 10.1136/jmedgenet-2016-103832  0.44
2016 Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, Gamal I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive. Annals of Neurology. PMID 27130255 DOI: 10.1002/ana.24678  0.64
2016 Kim JH, Ki SM, Joung JG, Scott E, Heynen-Genel S, Aza-Blanc P, Kwon CH, Kim J, Gleeson JG, Lee JE. Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation. Biochimica Et Biophysica Acta. PMID 27033521 DOI: 10.1016/j.bbamcr.2016.03.021  1
2016 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. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. American Journal of Medical Genetics. Part A. 170: 992-8. PMID 27001912 DOI: 10.1002/ajmg.a.37533  0.64
2016 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. The mutation significance cutoff: gene-level thresholds for variant predictions. Nature Methods. 13: 109-10. PMID 26820543 DOI: 10.1038/nmeth.3739  0.64
2016 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. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37533  1
2015 Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, ... ... Gleeson JG, et al. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 85: 228. PMID 29654772 DOI: 10.1016/j.neuron.2014.12.046  0.68
2015 Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L. Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. Human Genome Variation. 2: 15001. PMID 27082236 DOI: 10.1038/hgv.2015.1  0.44
2015 Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. American Journal of Human Genetics. PMID 26708753 DOI: 10.1016/j.ajhg.2015.11.013  0.64
2015 Baek ST, Copeland B, Yun EJ, Kwon SK, Guemez-Gamboa A, Schaffer AE, Kim S, Kang HC, Song S, Mathern GW, Gleeson JG. An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nature Medicine. PMID 26523971 DOI: 10.1038/nm.3982  1
2015 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, ... ... Gleeson JG, et al. The human gene damage index as a gene-level approach to prioritizing exome variants. Proceedings of the National Academy of Sciences of the United States of America. 112: 13615-20. PMID 26483451 DOI: 10.1073/pnas.1518646112  0.64
2015 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, et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human Molecular Genetics. PMID 26385635 DOI: 10.1093/hmg/ddv388  0.64
2015 Kang HC, Baek ST, Song S, Gleeson JG. Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA. The Journal of Pediatrics. PMID 26340871 DOI: 10.1016/j.jpeds.2015.07.049  1
2015 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, ... ... Gleeson JG, et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology. PMID 26167768 DOI: 10.1038/ncb3201  0.64
2015 Zaki MS, Masri A, Gregor A, Gleeson JG, Rosti RO. Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families. American Journal of Medical Genetics. Part A. 167: 2503-7. PMID 26109232 DOI: 10.1002/ajmg.a.37225  1
2015 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, ... ... Gleeson JG, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4. PMID 26026149 DOI: 10.7554/eLife.06602  1
2015 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, ... ... Gleeson JG, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47: 809-13. PMID 26005868 DOI: 10.1038/ng.3311  1
2015 Yang H, Fang L, Zhan R, Hegarty JM, Ren J, Hsiai TK, Gleeson JG, Miller YI, Trejo J, Chi NC. Polo-like kinase 2 regulates angiogenic sprouting and blood vessel development. Developmental Biology. 404: 49-60. PMID 26004360 DOI: 10.1016/j.ydbio.2015.05.011  0.68
2015 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, ... ... Gleeson JG, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34. PMID 25848753 DOI: 10.1038/ng.3256  1
2015 Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG. Novel STAMBP mutation and additional findings in an Arabic family. American Journal of Medical Genetics. Part A. 167: 805-9. PMID 25692795 DOI: 10.1002/ajmg.a.36782  1
2015 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, ... ... Gleeson J, et al. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Human Molecular Genetics. 24: 2594-603. PMID 25616960 DOI: 10.1093/hmg/ddv022  0.64
2015 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, ... ... Gleeson JG, et al. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Human Molecular Genetics. 24: 2000-10. PMID 25504045 DOI: 10.1093/hmg/ddu614  1
2015 Zaki MS, Selim L, Mansour L, Mahmoud IG, Fenstermaker AG, Gabriel SB, Gleeson JG. Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis. Clinical Genetics. 88: 95-7. PMID 25496456 DOI: 10.1111/cge.12516  1
2015 Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metabolic Brain Disease. 30: 687-94. PMID 25227173 DOI: 10.1007/s11011-014-9618-0  1
2015 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, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. European Journal of Human Genetics : Ejhg. 23: 621-7. PMID 25138100 DOI: 10.1038/ejhg.2014.156  1
2014 Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L. Mutation spectrum of Joubert syndrome and related disorders among Arabs. Human Genome Variation. 1: 14020. PMID 27081510 DOI: 10.1038/hgv.2014.20  0.44
2014 Mishra-Gorur K, Ça?layan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümü? GT, Nishimura S, Han W, Tu S, Baran B, Gümü? H, Dilber C, Zaki MS, Hossni HA, ... ... Gleeson JG, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 84: 1226-39. PMID 25521378 DOI: 10.1016/j.neuron.2014.12.014  1
2014 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, ... ... Gleeson JG, et al. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. American Journal of Human Genetics. 95: 721-8. PMID 25480035 DOI: 10.1016/j.ajhg.2014.10.016  1
2014 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. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics. 45: 386-93. PMID 25243380 DOI: 10.1055/s-0034-1389161  1
2014 Conti V, Pantaleo M, Barba C, Baroni G, Mei D, Buccoliero AM, Giglio S, Giordano F, Baek ST, Gleeson JG, Guerrini R. Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene. Clinical Genetics. PMID 25091978 DOI: 10.1111/cge.12476  0.68
2014 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, ... ... Gleeson JG, et al. Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. The Embo Journal. 33: 2020-39. PMID 25063673 DOI: 10.15252/embj.201489282  1
2014 Baek ST, Kerjan G, Bielas SL, Lee JE, Fenstermaker AG, Novarino G, Gleeson JG. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron. 82: 1255-62. PMID 24945770 DOI: 10.1016/j.neuron.2014.04.036  1
2014 Marin-Valencia I, Guerrini R, Gleeson JG. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia. 55: 970-8. PMID 24861491 DOI: 10.1111/epi.12650  1
2014 Guemez-Gamboa A, Coufal NG, Gleeson JG. Primary cilia in the developing and mature brain. Neuron. 82: 511-21. PMID 24811376 DOI: 10.1016/j.neuron.2014.04.024  1
2014 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, ... ... Gleeson JG, et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 157: 651-63. PMID 24766810 DOI: 10.1016/j.cell.2014.03.049  1
2014 Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Human Genetics. 133: 1023-39. PMID 24748105 DOI: 10.1007/s00439-014-1443-3  1
2014 Romani S, Illi B, De Mori R, Savino M, Gleeson JG, Valente EM. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Differentiation; Research in Biological Diversity. 87: 134-46. PMID 24613594 DOI: 10.1016/j.diff.2014.02.005  1
2014 Ismail S, Schaffer AE, Rosti RO, Gleeson JG, Zaki MS. Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene. 539: 279-82. PMID 24530477 DOI: 10.1016/j.gene.2014.01.070  1
2014 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 GM, Karminejad A, ... ... Gleeson JG, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11. PMID 24482476 DOI: 10.1126/science.1247363  1
2014 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, ... ... Gleeson JG, et al. Mutations in CSPP1 lead to classical Joubert syndrome. American Journal of Human Genetics. 94: 80-6. PMID 24360807 DOI: 10.1016/j.ajhg.2013.11.015  1
2014 Valente EM, Rosti RO, Gibbs E, Gleeson JG. Primary cilia in neurodevelopmental disorders. Nature Reviews. Neurology. 10: 27-36. PMID 24296655 DOI: 10.1038/nrneurol.2013.247  1
2014 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, ... ... Gleeson JG, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Human Mutation. 35: 137-46. PMID 24166846 DOI: 10.1002/humu.22470  1
2014 Rosti RO, Sadek AA, Vaux KK, Gleeson JG. The genetic landscape of autism spectrum disorders. Developmental Medicine and Child Neurology. 56: 12-8. PMID 24116704 DOI: 10.1111/dmcn.12278  1
2013 Novarino G, Baek ST, Gleeson JG. The sacred disease: the puzzling genetics of epileptic disorders. Neuron. 80: 9-11. PMID 24094099 DOI: 10.1016/j.neuron.2013.09.019  1
2013 Kim S, Jeong K, Bhutani K, Lee J, Patel A, Scott E, Nam H, Lee H, Gleeson JG, Bafna V. Virmid: accurate detection of somatic mutations with sample impurity inference. Genome Biology. 14: R90. PMID 23987214 DOI: 10.1186/gb-2013-14-8-r90  1
2013 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, ... ... Gleeson JG, et al. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 154: 505-17. PMID 23911318 DOI: 10.1016/j.cell.2013.07.005  1
2013 Théoret H, Gleeson J, Pascual-Leone A. Neurophysiologic characterization of motor and sensory projections in Joubert syndrome. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. 124: 2283-4. PMID 23906682 DOI: 10.1016/j.clinph.2013.06.006  1
2013 Hussain S, Sajini AA, Blanco S, Dietmann S, Lombard P, Sugimoto Y, Paramor M, Gleeson JG, Odom DT, Ule J, Frye M. NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs. Cell Reports. 4: 255-61. PMID 23871666 DOI: 10.1016/j.celrep.2013.06.029  1
2013 Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. American Journal of Medical Genetics. Part A. 161: 1523-30. PMID 23704059 DOI: 10.1002/ajmg.a.35969  1
2013 Joo K, Kim CG, Lee MS, Moon HY, Lee SH, Kim MJ, Kweon HS, Park WY, Kim CH, Gleeson JG, Kim J. CCDC41 is required for ciliary vesicle docking to the mother centriole. Proceedings of the National Academy of Sciences of the United States of America. 110: 5987-92. PMID 23530209 DOI: 10.1073/pnas.1220927110  1
2013 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, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. American Journal of Human Genetics. 92: 468-74. PMID 23472759 DOI: 10.1016/j.ajhg.2013.02.005  1
2013 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, ... ... Gleeson JG, et al. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics. 92: 392-400. PMID 23453666 DOI: 10.1016/j.ajhg.2013.02.004  1
2013 Baek ST, Gibbs EM, Gleeson JG, Mathern GW. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Current Opinion in Neurology. 26: 122-7. PMID 23449172 DOI: 10.1097/WCO.0b013e32835ef373  1
2013 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, ... ... Gleeson JG, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics : Ejhg. 21: 1074-8. PMID 23386033 DOI: 10.1038/ejhg.2012.305  1
2013 Shin E, Kashiwagi Y, Kuriu T, Iwasaki H, Tanaka T, Koizumi H, Gleeson JG, Okabe S. Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation. Nature Communications. 4: 1440. PMID 23385585 DOI: 10.1038/ncomms2443  1
2013 Kariminejad A, Radmanesh F, Rezayi AR, Tonekaboni SH, Gleeson JG. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. Journal of Child Neurology. 28: 651-7. PMID 22859694 DOI: 10.1177/0883073812448530  1
2013 Sonmez FM, Gleeson JG, Celep F, Kul S. The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. Journal of Child Neurology. 28: 379-83. PMID 22532556 DOI: 10.1177/0883073812441065  1
2012 Ä°ncecik F, Hergüner MÖ, AltunbaÅŸak Åž, Gleeson JG. Joubert syndrome: report of 11 cases. The Turkish Journal of Pediatrics. 54: 605-11. PMID 23692786  1
2012 Sotak BN, Gleeson JG. Can't get there from here: cilia and hydrocephalus. Nature Medicine. 18: 1742-3. PMID 23223060 DOI: 10.1038/nm.3011  1
2012 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, ... ... Gleeson JG, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. American Journal of Human Genetics. 91: 1051-64. PMID 23176821 DOI: 10.1016/j.ajhg.2012.11.001  1
2012 Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). American Journal of Medical Genetics. Part A. 158: 2788-96. PMID 22991235 DOI: 10.1002/ajmg.a.35583  1
2012 Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L. A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. Bmc Medical Genetics. 13: 80. PMID 22973972 DOI: 10.1186/1471-2350-13-80  1
2012 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, ... ... Gleeson JG, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.). 338: 394-7. PMID 22956686 DOI: 10.1126/science.1224631  1
2012 Friedman J, Olvera J, Silhavy JL, Gabriel SB, Gleeson JG. Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology. 79: 946-8. PMID 22895590 DOI: 10.1212/WNL.0b013e318266fabf  1
2012 Gleeson JG, Polleux F. Neurodevelopment and disease. Current Opinion in Neurobiology. 22: 735-6. PMID 22889697 DOI: 10.1016/j.conb.2012.07.010  1
2012 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, ... ... Gleeson JG, et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 150: 533-48. PMID 22863007 DOI: 10.1016/j.cell.2012.06.028  1
2012 Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain : a Journal of Neurology. 135: 2416-27. PMID 22822038 DOI: 10.1093/brain/aws162  1
2012 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. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nature Genetics. 44: 941-5. PMID 22729223 DOI: 10.1038/ng.2329  1
2012 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, ... ... Gleeson JG, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4: 138ra78. PMID 22700954 DOI: 10.1126/scitranslmed.3003544  1
2012 Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet Journal of Rare Diseases. 7: 27. PMID 22587682 DOI: 10.1186/1750-1172-7-27  1
2012 Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, Frye M, Al-Gazali L, Gleeson JG. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. Journal of Medical Genetics. 49: 380-5. PMID 22577224 DOI: 10.1136/jmedgenet-2011-100686  1
2012 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. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics. 90: 685-8. PMID 22444671 DOI: 10.1016/j.ajhg.2012.02.010  1
2012 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, ... ... Gleeson JG, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9. PMID 22282472 DOI: 10.1126/science.1213506  1
2012 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, ... ... Gleeson JG, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/ng.1078  1
2011 Zaki MS, Sattar S, Massoudi RA, Gleeson JG. Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. American Journal of Medical Genetics. Part A. 155: 3042-9. PMID 22002901 DOI: 10.1002/ajmg.a.34173  1
2011 Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. American Journal of Medical Genetics. Part A. 155: 3035-41. PMID 22002884 DOI: 10.1002/ajmg.a.34078  1
2011 Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell. 147: 70-9. PMID 21962508 DOI: 10.1016/j.cell.2011.09.014  1
2011 Lee JE, Gleeson JG. A systems-biology approach to understanding the ciliopathy disorders. Genome Medicine. 3: 59. PMID 21943201 DOI: 10.1186/gm275  1
2011 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, et al. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. American Journal of Human Genetics. 89: 15-27. PMID 21763480 DOI: 10.1016/j.ajhg.2011.05.021  1
2011 Sattar S, Gleeson JG. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Developmental Medicine and Child Neurology. 53: 793-8. PMID 21679365 DOI: 10.1111/j.1469-8749.2011.04021.x  1
2011 Lancaster MA, Gopal DJ, Kim J, Saleem SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nature Medicine. 17: 726-31. PMID 21623382 DOI: 10.1038/nm.2380  1
2011 Lancaster MA, Schroth J, Gleeson JG. Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nature Cell Biology. 13: 700-7. PMID 21602792 DOI: 10.1038/ncb2259  1
2011 Marín O, Gleeson JG. Function follows form: understanding brain function from a genetic perspective. Current Opinion in Genetics & Development. 21: 237-9. PMID 21536429 DOI: 10.1016/j.gde.2011.04.007  1
2011 Lee JE, Gleeson JG. Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Current Opinion in Neurology. 24: 98-105. PMID 21386674 DOI: 10.1097/WCO.0b013e3283444d05  1
2011 Butko MT, Drobizhev M, Makarov NS, Rebane A, Brinkman BC, Gleeson JG. Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity. Bmc Biotechnology. 11: 20. PMID 21366923 DOI: 10.1186/1472-6750-11-20  1
2011 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, ... ... Gleeson JG, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76: 373-82. PMID 21263138 DOI: 10.1212/WNL.0b013e318208f492  1
2011 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, ... ... Gleeson JG, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43: 189-96. PMID 21258341 DOI: 10.1038/ng.756  1
2011 Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. European Journal of Medical Genetics. 54: 82-5. PMID 20971220 DOI: 10.1016/j.ejmg.2010.10.006  1
2010 Dixon-Salazar TJ, Gleeson JG. Genetic regulation of human brain development: lessons from Mendelian diseases. Annals of the New York Academy of Sciences. 1214: 156-67. PMID 21062301 DOI: 10.1111/j.1749-6632.2010.05819.x  1
2010 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, ... ... Gleeson JG, et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain : a Journal of Neurology. 133: 3210-20. PMID 20852264 DOI: 10.1093/brain/awq261  1
2010 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, ... ... Gleeson JG, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17. PMID 20637498 DOI: 10.1016/j.cell.2010.06.001  1
2010 Lancaster MA, Gleeson JG. Cystic kidney disease: the role of Wnt signaling. Trends in Molecular Medicine. 16: 349-60. PMID 20576469 DOI: 10.1016/j.molmed.2010.05.004  1
2010 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, ... ... Gleeson JG, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42: 619-25. PMID 20512146 DOI: 10.1038/ng.594  1
2010 Kim J, Lee JE, Heynen-Genel S, Suyama E, Ono K, Lee K, Ideker T, Aza-Blanc P, Gleeson JG. Functional genomic screen for modulators of ciliogenesis and cilium length. Nature. 464: 1048-51. PMID 20393563 DOI: 10.1038/nature08895  1
2010 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, ... ... Gleeson JG, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation. 31: E1319-31. PMID 20232449 DOI: 10.1002/humu.21239  1
2010 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, ... ... Gleeson J, et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. The Journal of Clinical Investigation. 120: 791-802. PMID 20179356 DOI: 10.1172/JCI40076  1
2010 Lee JH, Gleeson JG. The role of primary cilia in neuronal function. Neurobiology of Disease. 38: 167-72. PMID 20097287 DOI: 10.1016/j.nbd.2009.12.022  1
2010 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, ... ... Gleeson JG, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nature Genetics. 42: 175-80. PMID 20081859 DOI: 10.1038/ng.519  1
2010 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, ... ... Gleeson J, et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076) Journal of Clinical Investigation. 120: 1362. DOI: 10.1172/JCI40076C1  1
2009 Koizumi H, Gleeson JG. Sun proteins enlighten nuclear movement in development. Neuron. 64: 147-9. PMID 19874779 DOI: 10.1016/j.neuron.2009.10.010  1
2009 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, et al. Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics. Part A. 149: 2173-80. PMID 19764032 DOI: 10.1002/ajmg.a.33025  1
2009 Diaz AL, Gleeson JG. The molecular and genetic mechanisms of neocortex development. Clinics in Perinatology. 36: 503-12. PMID 19732610 DOI: 10.1016/j.clp.2009.06.008  1
2009 Lefkowitz GK, Gleeson JG. Aurora A moonlights in neurite extension. Nature Cell Biology. 11: 1053-4. PMID 19724260 DOI: 10.1038/ncb0909-1053  1
2009 Lancaster MA, Louie CM, Silhavy JL, Sintasath L, Decambre M, Nigam SK, Willert K, Gleeson JG. Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nature Medicine. 15: 1046-54. PMID 19718039 DOI: 10.1038/nm.2010  1
2009 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, ... ... Gleeson JG, et al. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature Genetics. 41: 1032-6. PMID 19668216 DOI: 10.1038/ng.423  1
2009 Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. American Journal of Medical Genetics. Part A. 149: 1789-94. PMID 19610102 DOI: 10.1002/ajmg.a.32983  1
2009 Lancaster MA, Gleeson JG. The primary cilium as a cellular signaling center: lessons from disease. Current Opinion in Genetics & Development. 19: 220-9. PMID 19477114 DOI: 10.1016/j.gde.2009.04.008  1
2009 Kerjan G, Koizumi H, Han EB, Dubé CM, Djakovic SN, Patrick GN, Baram TZ, Heinemann SF, Gleeson JG. Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures. Proceedings of the National Academy of Sciences of the United States of America. 106: 6766-71. PMID 19342486 DOI: 10.1073/pnas.0812687106  1
2009 Kerjan G, Gleeson JG. Moving neurons back into place. Nature Medicine. 15: 17-8. PMID 19129774 DOI: 10.1038/nm0109-17  1
2009 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, ... ... Gleeson JG, et al. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Human Mutation. 30: E432-42. PMID 19058225 DOI: 10.1002/humu.20924  1
2008 Tanaka T, Gleeson JG. Subcortical laminar (band) heterotopia. Handbook of Clinical Neurology. 87: 191-204. PMID 18809026 DOI: 10.1016/S0072-9752(07)87012-6  1
2008 Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH. Association of common variants in the Joubert syndrome gene (AHI1) with autism. Human Molecular Genetics. 17: 3887-96. PMID 18782849 DOI: 10.1093/hmg/ddn291  1
2008 Kim J, Krishnaswami SR, Gleeson JG. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Human Molecular Genetics. 17: 3796-805. PMID 18772192 DOI: 10.1093/hmg/ddn277  1
2008 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, ... ... Gleeson JG, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/j.ajhg.2008.06.023  1
2008 Reijo Pera RA, Gleeson JG. Stems cells and regeneration: special review issue. Human Molecular Genetics. 17: R1-2. PMID 18632689 DOI: 10.1093/hmg/ddn186  1
2008 Millen KJ, Gleeson JG. Cerebellar development and disease. Current Opinion in Neurobiology. 18: 12-9. PMID 18513948 DOI: 10.1016/j.conb.2008.05.010  1
2008 Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 70: 556-65. PMID 18268248 DOI: 10.1212/01.wnl.0000277644.12087.fd  1
2007 Kerjan G, Gleeson JG. A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration. Genes & Development. 21: 2850-4. PMID 18006681 DOI: 10.1101/gad.1622907  1
2007 Kerjan G, Gleeson JG. Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends in Genetics : Tig. 23: 623-30. PMID 17997185 DOI: 10.1016/j.tig.2007.09.003  1
2007 Harbert MJ, Gleeson JG. Classifying a novel brain malformation. Brain : a Journal of Neurology. 130: 2242-4. PMID 17711979 DOI: 10.1093/brain/awm194  1
2007 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, ... ... Gleeson JG, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American Journal of Human Genetics. 81: 104-13. PMID 17564967 DOI: 10.1086/519026  1
2007 Bielas SL, Serneo FF, Chechlacz M, Deerinck TJ, Perkins GA, Allen PB, Ellisman MH, Gleeson JG. Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist. Cell. 129: 579-91. PMID 17482550 DOI: 10.1016/j.cell.2007.03.023  1
2007 Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. American Journal of Medical Genetics. Part A. 143: 939-44. PMID 17431900 DOI: 10.1002/ajmg.a.31667  1
2007 Higginbotham HR, Gleeson JG. The centrosome in neuronal development. Trends in Neurosciences. 30: 276-83. PMID 17420058 DOI: 10.1016/j.tins.2007.04.001  1
2007 Gleeson JG. Rodent models of cerebral cortical developmental defects Drug Discovery Today: Disease Models. 3: 327-330. DOI: 10.1016/j.ddmod.2006.12.002  1
2007 Bielas SL, Serneo FF, Chechlacz M, Deerinck TJ, Perkins GA, Allen P, Ellisman MH, Gleeson JG. Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist (DOI:10.1016/j.cell.2007.03.023) Cell. 129: 1227-1228. DOI: 10.1016/j.cell.2007.05.040  1
2006 Tanaka T, Koizumi H, Gleeson JG. The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development. Cerebral Cortex (New York, N.Y. : 1991). 16: i69-73. PMID 16766710 DOI: 10.1093/cercor/bhk005  1
2006 Koizumi H, Higginbotham H, Poon T, Tanaka T, Brinkman BC, Gleeson JG. Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain. Nature Neuroscience. 9: 779-86. PMID 16699506 DOI: 10.1038/nn1704  1
2006 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, ... ... Gleeson JG, et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics. 38: 623-5. PMID 16682970 DOI: 10.1038/ng1805  1
2006 Higginbotham H, Tanaka T, Brinkman BC, Gleeson JG. GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization. Molecular and Cellular Neurosciences. 32: 118-32. PMID 16682216 DOI: 10.1016/j.mcn.2006.03.003  1
2006 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, ... ... Gleeson JG, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology. 59: 527-34. PMID 16453322 DOI: 10.1002/ana.20749  1
2006 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, et al. Coupling of cell migration with neurogenesis by proneural bHLH factors. Proceedings of the National Academy of Sciences of the United States of America. 103: 1319-24. PMID 16432194 DOI: 10.1073/pnas.0510419103  1
2006 Koizumi H, Tanaka T, Gleeson JG. Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration. Neuron. 49: 55-66. PMID 16387639 DOI: 10.1016/j.neuron.2005.10.040  1
2005 Louie CM, Gleeson JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Human Molecular Genetics. 14: R235-42. PMID 16244321 DOI: 10.1093/hmg/ddi264  1
2005 Tsai LH, Gleeson JG. Nucleokinesis in neuronal migration. Neuron. 46: 383-8. PMID 15882636 DOI: 10.1016/j.neuron.2005.04.013  1
2005 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, ... ... Gleeson JG, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Annals of Neurology. 57: 513-9. PMID 15786477 DOI: 10.1002/ana.20422  1
2004 Dixon-Salazar TJ, Keeler LC, Trauner DA, Gleeson JG. Autism in several members of a family with generalized epilepsy with febrile seizures plus. Journal of Child Neurology. 19: 597-603. PMID 15605469 DOI: 10.1177/088307380401900806  1
2004 Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG. Childhood primary angiitis of the central nervous system: two biopsy-proven cases. The Journal of Pediatrics. 145: 693-7. PMID 15520782 DOI: 10.1016/j.jpeds.2004.06.076  1
2004 Shu T, Ayala R, Nguyen MD, Xie Z, Gleeson JG, Tsai LH. Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron. 44: 263-77. PMID 15473966 DOI: 10.1016/j.neuron.2004.09.030  1
2004 Bielas S, Higginbotham H, Koizumi H, Tanaka T, Gleeson JG. Cortical neuronal migration mutants suggest separate but intersecting pathways. Annual Review of Cell and Developmental Biology. 20: 593-618. PMID 15473853 DOI: 10.1146/annurev.cellbio.20.082503.103047  1
2004 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. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. American Journal of Human Genetics. 75: 979-87. PMID 15467982 DOI: 10.1086/425985  1
2004 Higginbotham H, Bielas S, Tanaka T, Gleeson JG. Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells. Transgenic Research. 13: 155-64. PMID 15198203 DOI: 10.1023/B:TRAG.0000026071.41735.8e  1
2004 Tanaka T, Serneo FF, Higgins C, Gambello MJ, Wynshaw-Boris A, Gleeson JG. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. The Journal of Cell Biology. 165: 709-21. PMID 15173193 DOI: 10.1083/jcb.200309025  1
2004 Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American Journal of Human Genetics. 75: 82-91. PMID 15138899 DOI: 10.1086/421846  1
2004 Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. Journal of Child Neurology. 19: 227-31. PMID 15119486  1
2004 Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. American Journal of Medical Genetics. Part A. 125: 125-34; discussion 1. PMID 14981712 DOI: 10.1002/ajmg.a.20437  1
2004 Tanaka T, Serneo FF, Tseng HC, Kulkarni AB, Tsai LH, Gleeson JG. Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration. Neuron. 41: 215-27. PMID 14741103 DOI: 10.1016/S0896-6273(03)00852-3  1
2004 Bielas SL, Gleeson JG. Cytoskeletal-associated proteins in the migration of cortical neurons. Journal of Neurobiology. 58: 149-59. PMID 14598377 DOI: 10.1002/neu.10280  1
2003 Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. 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. Journal of Medical Genetics. 40: e128. PMID 14684696 DOI: 10.1136/jmg.40.12.e128  1
2003 Chechlacz M, Gleeson JG. Is mental retardation a defect of synapse structure and function? Pediatric Neurology. 29: 11-7. PMID 13679116 DOI: 10.1016/S0887-8994(03)00152-8  1
2003 Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. American Journal of Human Genetics. 73: 656-62. PMID 12917796 DOI: 10.1086/378206  1
2003 Gambello MJ, Darling DL, Yingling J, Tanaka T, Gleeson JG, Wynshaw-Boris A. Multiple dose-dependent effects of Lis1 on cerebral cortical development. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 23: 1719-29. PMID 12629176 DOI: 10.1523/JNEUROSCI.23-05-01719.2003  1
2003 Gleeson JG. Another double trouble. Silent carriers of doublecortin mutations. Neurology. 60: 164-5. PMID 12552026 DOI: 10.1212/01.WNL.0000047856.71047.68  1
2002 Meyer G, Perez-Garcia CG, Gleeson JG. Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement. Cerebral Cortex (New York, N.Y. : 1991). 12: 1225-36. PMID 12427674 DOI: 10.1093/cercor/12.12.1225  1
2002 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, ... ... Gleeson JG, et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain : a Journal of Neurology. 125: 2507-22. PMID 12390976 DOI: 10.1093/brain/awf248  1
2001 Gleeson JG. Neuronal migration disorders. Mental Retardation and Developmental Disabilities Research Reviews. 7: 167-71. PMID 11553932 DOI: 10.1002/mrdd.1024  1
2000 Lin PT, Gleeson JG, Corbo JC, Flanagan L, Walsh CA. DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 20: 9152-61. PMID 11124993 DOI: 10.1523/JNEUROSCI.20-24-09152.2000  1
2000 Tanaka T, Gleeson JG. Genetics of brain development and malformation syndromes. Current Opinion in Pediatrics. 12: 523-8. PMID 11106269 DOI: 10.1097/00008480-200012000-00002  1
2000 Gleeson JG. Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. Current Opinion in Neurology. 13: 121-5. PMID 10987567  1
2000 Taylor KR, Holzer AK, Bazan JF, Walsh CA, Gleeson JG. Patient mutations in doublecortin define a repeated tubulin-binding domain. The Journal of Biological Chemistry. 275: 34442-50. PMID 10946000 DOI: 10.1074/jbc.M007078200  1
2000 Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. American Journal of Human Genetics. 67: 574-81. PMID 10915612 DOI: 10.1086/303043  1
2000 Gleeson JG, Walsh CA. Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends in Neurosciences. 23: 352-9. PMID 10906798 DOI: 10.1016/S0166-2236(00)01607-6  1
2000 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. Genetic and neuroradiological heterogeneity of double cortex syndrome. Annals of Neurology. 47: 265-9. PMID 10665503 DOI: 10.1002/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N  1
1999 Illarioshkin SN, Allen KM, Gleeson JG, Tsuji S, Ikeuchi T, Markova ED, Walsh CA, Ivanova-Smolenskaya IA. Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. Journal of Neurology. 246: 1177-80. PMID 10653312 DOI: 10.1007/s004150050539  1
1999 Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 53: 270-7. PMID 10430413 DOI: 10.1212/WNL.53.2.270  1
1999 Gleeson JG, Lin PT, Flanagan LA, Walsh CA. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 23: 257-71. PMID 10399933 DOI: 10.1016/S0896-6273(00)80778-3  1
1999 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, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Annals of Neurology. 45: 146-53. PMID 9989615 DOI: 10.1002/1531-8249(199902)45:2<146::AID-ANA3>3.0.CO;2-N  1
1998 Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Human Molecular Genetics. 7: 2029-37. PMID 9817918 DOI: 10.1093/hmg/7.13.2029  1
1998 Allen KM, Gleeson JG, Shoup SM, Walsh CA. A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3. Genomics. 52: 214-8. PMID 9782089 DOI: 10.1006/geno.1998.5424  1
1998 Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA. PAK3 mutation in nonsyndromic X-linked mental retardation. Nature Genetics. 20: 25-30. PMID 9731525 DOI: 10.1038/1675  1
1998 Gleeson JG, duPlessis AJ, Barnes PD, Riviello JJ. Cyclosporin A acute encephalopathy and seizure syndrome in childhood: clinical features and risk of seizure recurrence. Journal of Child Neurology. 13: 336-44. PMID 9701483 DOI: 10.1177/088307389801300706  1
1998 Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 92: 63-72. PMID 9489700 DOI: 10.1016/S0092-8674(00)80899-5  1
1997 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, et al. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Human Molecular Genetics. 6: 555-62. PMID 9097958 DOI: 10.1093/hmg/6.4.555  1
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