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William B. Dobyns
William B. Dobyns
Other namesWilliam Dobyns, W. B. Dobyns, W. Dobyns
Professor of Pediatrics
Verified email at umn.edu
Title
Cited by
Cited by
Year
A developmental and genetic classification for malformations of cortical development: update 2012
AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson, WB Dobyns
Brain 135 (5), 1348-1369, 2012
19032012
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, DW Stockton, C Amos, ...
Nature genetics 15 (1), 62-69, 1997
18951997
Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
O Reiner, R Carrozzo, Y Shen, M Wehnert, F Faustinella, WB Dobyns, ...
Nature 364 (6439), 717-721, 1993
11771993
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
JG Gleeson, KM Allen, JW Fox, ED Lamperti, S Berkovic, I Scheffer, ...
Cell 92 (1), 63-72, 1998
11441998
Characterizing the pattern of anomalies in congenital Zika syndrome for pediatric clinicians
CA Moore, JE Staples, WB Dobyns, A Pessoa, CV Ventura, ...
JAMA pediatrics 171 (3), 288-295, 2017
9752017
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
JW Fox, ED Lamperti, YZ Ekşioğlu, SE Hong, Y Feng, DA Graham, ...
Neuron 21 (6), 1315-1325, 1998
9671998
Recurrent 16p11. 2 microdeletions in autism
RA Kumar, S KaraMohamed, J Sudi, DF Conrad, C Brune, JA Badner, ...
Human molecular genetics 17 (4), 628-638, 2008
8152008
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...
The American Journal of Human Genetics 71 (5), 1033-1043, 2002
7932002
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
K Kitamura, M Yanazawa, N Sugiyama, H Miura, A Iizuka-Kogo, ...
Nature genetics 32 (3), 359-369, 2002
7882002
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
P Sanyanusin, LA Schimmenti, LA McNoe, TA Ward, MEM Pierpont, ...
Nature genetics 9 (4), 358-364, 1995
7601995
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934-940, 2012
7072012
Classification system for malformations of cortical development: update 2001
AJ Barkovich, RI Kuzniecky, GD Jackson, R Guerrini, WB Dobyns
Neurology 57 (12), 2168-2178, 2001
6952001
Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
P de Carvalho Aguiar, KJ Sweadner, JT Penniston, J Zaremba, L Liu, ...
Neuron 43 (2), 169-175, 2004
5782004
G protein-coupled receptor-dependent development of human frontal cortex
X Piao, RS Hill, A Bodell, BS Chang, L Basel-Vanagaite, R Straussberg, ...
Science 303 (5666), 2033-2036, 2004
5642004
A classification scheme for malformations of cortical development
AJ Barkovich, RI Kuzniecky, WB Dobyns, GD Jackson, LE Becker, ...
Neuropediatrics 27 (02), 59-63, 1996
5331996
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA
VL Luks, N Kamitaki, MP Vivero, W Uller, R Rab, JVMG Bovée, KL Rialon, ...
The Journal of pediatrics 166 (4), 1048-1054. e5, 2015
5282015
Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
WB Dobyns, O Reiner, R Carrozzo, DH Ledbetter
Jama 270 (23), 2838-2842, 1993
4891993
Diagnostic criteria for Walker‐Warburg syndrome
WB Dobyns, RA Pagon, D Armstrong, CJR Curry, F Greenberg, A Grix, ...
American journal of medical genetics 32 (2), 195-210, 1989
4791989
Malformations of cortical development: clinical features and genetic causes
R Guerrini, WB Dobyns
The Lancet Neurology 13 (7), 710-726, 2014
4772014
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del (17)(p11. 2).
F Greenberg, V Guzzetta, RM de Oca-Luna, RE Magenis, AC Smith, ...
American journal of human genetics 49 (6), 1207, 1991
4241991
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