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William B. Dobyns

Affiliations: 
Human Genetics University of Chicago, Chicago, IL 
Area:
Pediatric Neurology
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"William Dobyns"
Mean distance: 15.89 (cluster 11)
 		SNBCP
Cross-listing: BCM Tree

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Parents

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Marvin A. Fishman post-doc 1980-1983 Baylor College of Medicine

Children

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Collaborators

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Joseph G. Gleeson collaborator
Kathleen Millen collaborator University of Chicago, University of Washington, Seattle Children's Research Institute
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Publications

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Adam AP, Curry CJ, Hall JG, et al. (2020) Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. American Journal of Medical Genetics. Part A
Oegema R, Barakat TS, Wilke M, et al. (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews. Neurology
Brock S, Vanderhasselt T, Vermaning S, et al. (2020) Defining the phenotypical spectrum associated with variants in . Journal of Medical Genetics
Lennox AL, Hoye ML, Jiang R, et al. (2020) Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron
Nambot S, Faivre L, Mirzaa G, et al. (2020) De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European Journal of Human Genetics : Ejhg
Mak CCY, Doherty D, Lin AE, et al. (2019) MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain : a Journal of Neurology
Marzin P, Rondeau S, Aldinger KA, et al. (2019) SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Haldipur P, Aldinger KA, Bernardo S, et al. (2019) Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science (New York, N.Y.). 366: 454-460
Lee S, Chen DY, Zaki MS, et al. (2019) 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
Vabres P, Sorlin A, Kholmanskikh SS, et al. (2019) Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics
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