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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Berg AT, Dobyns WB. (2016) Progress in autism research and postgenomic studies - Authors' reply The Lancet Neurology. 15: 136-137
Mirzaa GM, Collins S, Dobyns WB. (2016) Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86" American Journal of Medical Genetics, Part A. 170: 547
Roy A, Skibo J, Kalume F, et al. (2015) Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 4
Mirzaa GM, Conti V, Timms AE, et al. (2015) Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. The Lancet. Neurology
Huang L, Vanstone MR, Hartley T, et al. (2015) Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Human Mutation
Leto K, Arancillo M, Becker EB, et al. (2015) Consensus Paper: Cerebellar Development. Cerebellum (London, England)
McMahon KQ, Papandreou A, Ma M, et al. (2015) Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. American Journal of Medical Genetics. Part A
Oegema R, Cushion TD, Phelps IG, et al. (2015) Recognisable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics
Roosing S, Hofree M, Kim S, et al. (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4
Roth CL, Eslamy H, Werny D, et al. (2015) Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity. Obesity (Silver Spring, Md.). 23: 1226-33
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