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Author Details

Joseph G Gleeson
University of California
1991
300
78
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37951597Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain2024
36318270Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.Genet Med2023
37963460Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.Am J Hum Genet2023
37596828Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.Am J Med Genet A2023
37794925Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.Brain Commun2023
37985666Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.Sci Data2023
37459438SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.Brain2023
37425688Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.medRxiv2023
37055917Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.Clin Genet2023
37119330AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.Acta Neuropathol2023
37344571BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Eur J Hum Genet2023
37169866Personalized antisense oligonucleotides 'for free, for life' - the n-Lorem Foundation.Nat Med2023
37225994Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.Nature2023
36641749Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway.Cell Rep2023
36669109TMEM161B modulates radial glial scaffolding in neocortical development.Proc Natl Acad Sci U S A2023
36759260Stem Cell-Based Organoid Models of Neurodevelopmental Disorders.Biol Psychiatry2023
36757698Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA Netw Open2023
34605855Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Brain2022
35444276Somatic mosaicism reveals clonal distributions of neocortical development.Nature2022
35769015Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.Brain2022
35768728Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.Nat Genet2022
35830857Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.Am J Hum Genet2022
35787314Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission.Elife2022
35417697A Zika virus mutation enhances transmission potential and confers escape from protective dengue virus immunity.Cell Rep2022
35654974A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.Nat Genet2022
36044892Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.Am J Hum Genet2022
36370694Evaluating human mutation databases for "treatability" using patient-customized therapy.Med2022
33874789The Neurobiology of Modern Viral Scourges: ZIKV and COVID-19.Neuroscientist2022
35091571Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.NPJ Genom Med2022
35338243Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.J Hum Genet2022
34989426Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.Hum Mutat2022
35322404El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.Clin Genet2022
32439809Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disability.J Med Genet2021
33824466Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.Eur J Hum Genet2021
33594369A Human 3D neural assembloid model for SARS-CoV-2 infection.bioRxiv2021
33594354A Human 3D neural assembloid model for SARS-CoV-2 infection.Res Sq2021
33589599Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.Nat Commun2021
34861176Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.Am J Hum Genet2021
34587489ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.Am J Hum Genet2021
34546337Implication of folate deficiency in CYP2U1 loss of function.J Exp Med2021
34388390Developmental and temporal characteristics of clonal sperm mosaicism.Cell2021
34158173Sperm mosaicism: implications for genomic diversity and disease.Trends Genet2021
34244682A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology.Nat Med2021
34214448Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.Am J Hum Genet2021
34038740Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.Am J Hum Genet2021
34163010Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.Eur J Hum Genet2021
33408250Negative 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 A2021
33172956Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.J Med Genet2021
33340455UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.Am J Hum Genet2021
33220177Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.Neuron2021
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Collaborators

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University of California
Co-authored papers 37
University of Minnesota
Co-authored papers 35
University of Virginia
Co-authored papers 34
Institute of Neurology, University College London (UCL)
Co-authored papers 30
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Co-authored papers 25
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Co-authored papers 24
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Co-authored papers 24
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Co-authored papers 23
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Co-authored papers 21
Istanbul University
Co-authored papers 21
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Co-authored papers 19
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 18
Yale School of Medicine
Co-authored papers 16
King Faisal Specialist Hospital and Research Center
Co-authored papers 15
Children's University Hospital
Co-authored papers 14
Hamad Medical Corporation.
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Yale School of Medicine
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university of california san diego Health Physician Network
Co-authored papers 13
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 13
Cairo University
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University of Wisconsin
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Soonchunhyang University College of Medicine, Bucheon Hospital
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University of Leeds Leeds Institute of Medical Research at St James's
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University of Pennsylvania
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Howard Hughes Medical Institute, The Rockefeller University
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Scripps Research Translational Institute
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