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Author Details

William B Dobyns
University of Minnesota
1979
436
103
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37933701Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.Am J Med Genet A2024
36669109TMEM161B modulates radial glial scaffolding in neocortical development.Proc Natl Acad Sci U S A2023
37841849Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.Res Sq2023
37092537Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.Genet Med2023
34930816<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability.J Med Genet2022
35583973Human <i>KCNQ5</i> de novo mutations underlie epilepsy and intellectual disability.J Neurophysiol2022
35769015Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.Brain2022
35355055Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.Brain2022
35980381Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.Genet Med2022
36283405Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.Am J Hum Genet2022
34857515<i>ACTA2</i>-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.AJNR Am J Neuroradiol2022
32571897Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>.J Med Genet2021
33597769DLG4-related synaptopathy: a new rare brain disorder.Genet Med2021
33894126Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.Am J Hum Genet2021
33658631Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.Genet Med2021
34731701Lissencephaly: Update on diagnostics and clinical management.Eur J Paediatr Neurol2021
34537546Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.Int J Pediatr Otorhinolaryngol2021
34478656Response to Hamosh et al.Am J Hum Genet2021
34592643Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.Eur J Paediatr Neurol2021
34413877A <i>de novo GRIN1</i> Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.Front Genet2021
34346154Expanding the KIF4A-associated phenotype.Am J Med Genet A2021
34087052Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.Am J Med Genet A2021
34140698Spatial and cell type transcriptional landscape of human cerebellar development.Nat Neurosci2021
33473207Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.Genet Med2021
33241662Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).Am J Med Genet A2021
33417889A dyadic approach to the delineation of diagnostic entities in clinical genomics.Am J Hum Genet2021
33205886The spectrum of brain malformations and disruptions in twins.Am J Med Genet A2021
32884133Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.Genet Med2021
30690204Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.Eur J Med Genet2020
31834374MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain2020
31687902Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain.Viral Immunol2020
32097630Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.Neuron2020
32034319Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nat Genet2020
33001581Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?Am J Med Genet A2020
32827036Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).J Neuropathol Exp Neurol2020
32710489Genotype-phenotype correlation at codon 1740 of SETD2.Am J Med Genet A2020
32924308Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.Am J Med Genet A2020
32895508International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nat Rev Neurol2020
32500973Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.Am J Med Genet A2020
32273581Reply to Hsueh YP et al.Eur J Hum Genet2020
32169460Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.Eur J Paediatr Neurol2020
32135084Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.Neuron2020
30817854SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.Hum Mutat2019
31643139SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.Am J Med Genet C Semin Med Genet2019
31660690Duplication 2p16 is associated with perisylvian polymicrogyria.Am J Med Genet A2019
31793186Approach to overgrowth syndromes in the genome era.Am J Med Genet C Semin Med Genet2019
31474318Redefining the Etiologic Landscape of Cerebellar Malformations.Am J Hum Genet2019
31441589Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.Am J Med Genet C Semin Med Genet2019
31611689Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nat Genet2019
31585108Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.Am J Hum Genet2019
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Collaborators

Seattle Children's Hospital.
Co-authored papers 48
University of Florida, College of Medicine-Jacksonville
Co-authored papers 36
University of California
Co-authored papers 35
Broad Institute of MIT and Harvard
Co-authored papers 27
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 21
Children's Hospital of Philadelphia
Co-authored papers 20
Seattle Children's Research Institute
Co-authored papers 19
Center for Integrative Brain Research, Seattle Children's Research Institute
Co-authored papers 15
Co-authored papers 14
University of Washington
Co-authored papers 14
Co-authored papers 12
university of california san diego School of Medicine, University of California
Co-authored papers 10
University Medical Center Utrecht.
Co-authored papers 10
University of California
Co-authored papers 8
Seattle Children's Hospital
Co-authored papers 8
Istanbul University
Co-authored papers 8
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 8
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 8
Vrije Universiteit Brussel
Co-authored papers 8
Maastricht University Medical Centre
Co-authored papers 7
Autism and Developmental Medicine Institute
Co-authored papers 7
University of Pavia
Co-authored papers 7
King Faisal Specialist Hospital and Research Center
Co-authored papers 7
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
MassGeneral Hospital for Children
Co-authored papers 7
Stark Neurosciences Research Institute, Indiana University School of Medicine (IUSM)
Co-authored papers 6
University of Washington
Co-authored papers 6
Institute of Human Development, University of Manchester
Co-authored papers 6
University of Washington
Co-authored papers 6
University of Wisconsin
Co-authored papers 6