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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Publications

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Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, et al. (2021) DLG4-related synaptopathy: a new rare brain disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Biesecker LG, Adam MP, Alkuraya FS, et al. (2021) A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics. 108: 8-15
Park KB, Chapman T, Aldinger KA, et al. (2020) The spectrum of brain malformations and disruptions in twins. American Journal of Medical Genetics. Part A
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
Zenner K, Jensen DM, Cook TT, et al. (2020) Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Rabin R, Radmanesh A, Glass IA, et al. (2020) Genotype-phenotype correlation at codon 1740 of SETD2. American Journal of Medical Genetics. Part A
Wenger TL, Bly RA, Wu N, et al. (2020) Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. American Journal of Medical Genetics. Part A
Lennox AL, Hoye ML, Jiang R, et al. (2020) Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron
Vabres P, Sorlin A, Kholmanskikh SS, et al. (2020) Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics
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