William B. Dobyns

Overview

Best Publications

• Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel

  Olga Zhuchenko;Jennifer Bailey;Penelope Bonnen;Tetsuo Ashizawa;Tetsuo Ashizawa

  1883
  Citations

• Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

  Orly Reiner;Romeo Carrozzo;Ying Shen;Manfred Wehnert

  1169
  Citations

• doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

  Joseph G Gleeson;Joseph G Gleeson;Kristina M Allen;Jeremy W Fox;Edward D Lamperti

  1156
  Citations

• A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012.

  A. James Barkovich;Renzo Guerrini;Ruben I. Kuzniecky;Graeme D. Jackson

  1127
  Citations

• Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.

  Cynthia A. Moore;J. Erin Staples;William B. Dobyns;André Pessoa

  1048
  Citations

• Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

  Jeremy W Fox;Jeremy W Fox;Edward D Lamperti;Yaman Z Ekşioğlu;Susan E Hong

  965
  Citations

• A developmental and genetic classification for malformations of cortical development

  A. J. Barkovich;R. I. Kuzniecky;G. D. Jackson;R. Guerrini

  880
  Citations

• 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;Jacopo Celli

  802
  Citations

• Recurrent 16p11.2 microdeletions in autism

  Ravinesh A. Kumar;Samer KaraMohamed;Jyotsna Sudi;Donald F. Conrad

  798
  Citations

• De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

  Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  780
  Citations

• 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;Hirohito Miura

  770
  Citations

• 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;Teresa A. Ward

  751
  Citations

• Classification system for malformations of cortical development: Update 2001

  A. J. Barkovich;R. I. Kuzniecky;G. D. Jackson;R. Guerrini

  678
  Citations

• Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

  Patricia de Carvalho Aguiar;Patricia de Carvalho Aguiar;Kathleen J Sweadner;John T Penniston;Jacek Zaremba

  603
  Citations

• G protein-coupled receptor-dependent development of human frontal cortex.

  Xianhua Piao;Sean S. Hill;Adria Bodell;Bernard S. Chang

  560
  Citations

• A classification scheme for malformations of cortical development

  Aj. Barkovich;RI Kuzniecky;WB Dobyns;GD Jackson

  540
  Citations

• Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

  Valerie L. Luks;Nolan Kamitaki;Matthew P. Vivero;Wibke Uller

  533
  Citations

• Description of 13 Infants Born During October 2015–January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth — Brazil

  Vanessa van der Linden;André Pessoa;William Dobyns;A James Barkovich

  521
  Citations

• PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

  Kim M. Keppler-Noreuil;Jonathan J. Rios;Victoria E.R. Parker;Robert K. Semple

  516
  Citations

• Lissencephaly: A Human Brain Malformation Associated With Deletion of the LIS1 Gene Located at Chromosome 17p13

  William B. Dobyns;Orly Reiner;Romeo Carrozzo;David H. Ledbetter

  482
  Citations