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Author
William B. Dobyns
also known as Aaron Chidekel, Dobyns, WB, Dobyns, William B
University of Minnesota · University of Pisa · University of Nebraska at Omaha · Children's Hospital of Wisconsin
About this author
Works
597
Cited by
54,378
h-index
127
i10
417
ORCID ↗
Top papers
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen, et al.
·
1997
·
Nature Genetics
↗ 1,584
doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein
Joseph G. Gleeson, Kristina M. Allen, Jeremy W. Fox, et al.
·
1998
·
Cell
↗ 1,083
OA
Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
Orly Reiner, Romeo Carrozzo, Ying H. Shen, et al.
·
1993
·
Nature
↗ 1,069
A developmental and genetic classification for malformations of cortical development: update 2012
A. James Barkovich, Renzo Guerrini, Ruben Kuzniecky, et al.
·
2012
·
Brain
↗ 1,060
OA
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians
Cynthia A. Moore, J. Erin Staples, William B. Dobyns, et al.
·
2016
·
JAMA Pediatrics
↗ 988
OA
Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia
Jeremy W. Fox, Edward D. Lamperti, Yaman Z. Ekşioğlu, et al.
·
1998
·
Neuron
↗ 870
OA
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, et al.
·
2012
·
Nature Genetics
↗ 749
OA
Recurrent 16p11.2 microdeletions in autism
Revati Kumar, Samer Karamohamed, Jyotsna Sudi, et al.
·
2007
·
Human Molecular Genetics
↗ 740
OA
A developmental and genetic classification for malformations of cortical development
A. James Barkovich, Ruben Kuzniecky, Graeme D. Jackson, et al.
·
2005
·
Neurology
↗ 717
OA
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
Kunio Kitamura, Masako Yanazawa, Noriyuki Sugiyama, et al.
·
2002
·
Nature Genetics
↗ 705
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
·
2002
·
The American Journal of Human Genetics
↗ 686
OA
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
Phaikasame Sanyanusin, Lisa A. Schimmenti, Leslie A. McNoe, et al.
·
1995
·
Nature Genetics
↗ 661