WilliamBrianDobynsMD

PubMed

• 108 citations
  Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
  Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany L. Johnson-Kerner, Lindsey Suit
  Neuron. 2020-05-06
• 230 citations
  PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
  Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O'Roak, Joseph B. Hiatt
  Brain. 2015-06-01
• 38 citations
  A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
  Ravinesh A. Kumar, Jyotsna Sudi, Timothy D. Babatz, Camille W. Brune, Donald P. Oswald
  Journal of Medical Genetics. 2010-02-01

Journal Articles

• Biallelic Loss of Human CTNNA2, Encoding αN-Catenin, Leads to ARP2/3 Complex Overactivity and Disordered Cortical Neuronal Migration  
  Joseph G Gleeson, Ian Miller, Bruce A Barshop, William B Dobyns, Murat Gunel, Nature
• De Novo and Inherited Private Variants in MAP1B in Periventricular Nodular Heterotopia  
  Annapurna Poduri, Xiaolin Zhu, William B Dobyns, Christopher A Walsh, PLoS One
• Why West? Comparisons of Clinical, Genetic and Molecular Features of Infants with and Without Spasms  
  Jason Coryell, Joseph E Sullivan, William B Dobyns, John R Mytinger, Annapurna Poduri, Nicole Ryan, Tobias Loddenkemper, Courtney Wusthoff, Elaine C Wirrell, Kelly G K..., PLoS One
• The clinical spectrum of Wilson's disease (hepatolenticular degeneration).  
  Dobyns WB, Goldstein NP, Gordon H, Mayo Clin Proc
• Miller-Dieker syndrome and monosomy.  
  Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH, J Pediatr
• New chromosomal syndrome.  
  Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH, Hum Genet
• Computed tomographic appearance of lissencephaly syndromes.  
  Dobyns WB, McCluggage CW, Am J Neurorad
• Deficiency of chromosome.  
  Dobyns WB, Dewald GW, Carlson RO, Mair DD, Michels VV, Am J Med Genet
• Syndromes with lissencephaly  
  Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL, Am J Med Genet
• Further comments on the lissencephaly syndromes.  
  Dobyns WB, Gilbert EF, Opitz JM, Am J Med Genet
• Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome.  
  Greenberg F, Stratton RF, Lockhart LH, Elder FFB, Dobyns WB, Ledbetter DH, Am J Med Genet
• eonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.  
  Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW, Am J Med Genet
• Interstitial deletion of 17p11.2: report of 6 additional patients with a new chromosome deletion syndrome.  
  Stratton RF, Dobyns WB, Greenberg F, DeSana JB, Moore C, Fidone G, Runge GH, Feldman P, Sekhon GS, Pauli RM, Ledbetter DH, Am J Med Genet
• Familial cavernous malformations of the central nervous system and retina.  
  Dobyns WB, Michels VV, Groover RV, Mokri B, Trautman JC, Forbes GS, Laws ER, Ann Neurol
• Familial pericentric and paracentric inversions of chromosome 1.  
  Johnson DD, Dobyns WB, Gordon H, Dewald GW, Hum Genet
• Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.  
  vanTuinen P, Dobyns WB, Rich DC, Summers KM, Robinson TJ, Nakamura Y, Ledbetter DH, Am J Hum Genet
• Diagnostic criteria for Walker-Warburg syndrome.  
  Dobyns WB, Pagon RA, Armstrong D, Curry CJR, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, Zimmerman RL, Am J Med Genet
• Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Mille...  
  Ledbetter DH, Ledbetter SA, vanTuinen P, Summers KM, Robinson TJ, Nakamura Y, Wolff R, White R, Barker DF, Wallace MR, Collins FS, Dobyns WB, Proc Nat Acad Sci USA
• Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.  
  Dobyns WB, Neurology
• Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Hemophilus influenzaetype b conjugate vaccine.  
  D'Cruz OF, Shapiro ED, Spiegelman KN, Leicher CR, Breningstall GN, Khatri BO, Dobyns WB, J Pediatr
• Isolated lissencephaly: report of four patients from two unrelated families.  
  Pavone L, Gullotta F, Incorpora G, Grasso S, Dobyns WB, J Child Neurol
• Plasmapheresis in children with acute inflammatory polyneuropathy.  
  Khatri BO, Flamini JR, Baruah JK, Dobyns WB, Konkol RJ, Pediatr Neurol
• Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.  
  Batanian JR, Ledbetter SA, Wolff RK, Dobyns WB, Ledbetter DH, Hum Genet
• Epidermal nevus syndrome: a neurological variant with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy.  
  Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, Dunn DW, Dobyns WB, Neurology
• Vascular abnormalities in epidermal nevus syndrome.  
  Dobyns WB, Garg BP, Neurology
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Books/Book Chapters

• Molec Genet Metab. 
  Chapter: Human malformations of the midbrain and hindbrain: review and proposed classification scheme 
  Page 36 - 53Dobyns WB, Parisi MA
• Genetics of Focal Epilepsies: Clinical Aspects and Molecular Biology. 
  Chapter: Genetically determined forms of partial symptomatic epilepsies: clincal phenotype, neuropathology and neurogenetic basis of seizures 
  Page 125 - 147Dobyns WB, Guerrini R, Dulac O, Arzimanoglou A, AndermannE, Carrozzo RJohn Libbey & Co, London
• Neurología. 
  Chapter: Epilepsy and malformations of the cerebral cortex 
  Dobyns WB, Guerrini R, Canapicchi R
• euronal Migration Disorders. 
  Chapter: Lissencephaly:the clinical and molecular genetic basis of diffuse malformations of neuronal migration 
  Dobyns WB, Leventer RJMcKeith, london
• Neuronal Migration Disorders. 
  Chapter: Periventricular gray matter heterotopia: a hetero-geneousgroup of malformations of cortical developmen 
  Dobyns WB, Leventer RJEditors: Barth PG.McKeith, London
• Mol Med Today. 
  Chapter: issencephaly and subcortical band heterotopia: molecular basisand diagnosis 
  Dobyns WB, Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH
• Am J Med Genet 
  Chapter: X-linked malformations of cortical development 
  Page 213 - 220Dobyns WB, Leventer RJ, Mills PL
• Pediatric Neurology: Principles and Practice. 
  Dobyns WBEditors: Swaiman KF.Edition 3,
• Trends Neurosci. 
  Chapter: LIS1: from cortical malformation to essential protein of cellular dynamics 
  Page 489 - 492Dobyns WB, Leventer RJ, Cardoso C, Ledbetter DH
• Curr Opin Neurol. 
  Chapter: Radiologic classification of malformations of cortical development 
  Page 145 - 149Dobyns WB, Barkovich AJ, Kuzniecky RI
• Am J Med Genet. 
  Chapter: Primary microcephaly: new approaches for an old disorder 
  Page 315 - 317Dobyns WB
• Hum Molec Genet. 
  Chapter: Lissencephaly and the molecular basis of neuronal migration 
  DobynsWB, Kato M
• Neuropediatr. 
  Chapter: Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly 
  Page 30 - 106Dobyns WB, Barkovich AJ
• The Treatment of Epilepsy: Principles and Practice. 
  Chapter: Chapter 3. Malformations of cortical development and epilepsy 
  Page 37 - 53Dobyns WB, Kuzniecky REditors: Wyllie E, Gupta A, Lachhwani D.Lippincott Williams & Wilkins, PhiladelphiaEdition 4,
• Pediatric Neurology: Principles and Practice. 
  Chapter: Chapter 19. Congenital structural defects 
  Page 363 - 490Dobyns WB, Gleeson JG, Plawner L, Ashwal SEditors: Swaiman KF, Ashwal S, Ferriero D.Mosby Elsevier, PhiladelphiaEdition 4,
• Pediatric Neurology: Principles and Practice. 
  Chapter: Principles of Genetics 
  Page 507 - 539Dobyns WB, Das SEditors: Swaiman KF, Ashwal S, Ferriero D.Mosby Elsevier, PhiladelphiaEdition 4,
• Acta Paediatr Suppl. 
  Chapter: The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked 
  Page 11 - 15Dobyns WB
• J Neuropathol Exp Neurol. 
  Chapter: Pitfalls of the morphologic approach 
  Page 302 - 303Dobyns WB, Golden J, Forman M
• Pediatric Neurosurgery. 
  Chapter: Genetic syndromes and congenital anomalies 
  Page 130 - 142Dobyns WB, Waggoner DEditors: Frim DM, Gupta N.Landes Bioscience, Georgetown, TX
• Trends Neurosci. 
  Chapter: Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment 
  Page 154 - 162Dobyns WB, Guerrini R, Barkovich AJ
• Inborn Errors of Development. 
  Chapter: IC1 and ZIC4 and the Dandy-Walker malformation 
  Dobyns WB, Millen KJ, Grinberg I, Blank MA,Editors: Epstein CJ, Erickson RP, Wynshaw-Boris A.Oxford University PressEdition 2,
• Dialogues Clin Neurosci. 
  Chapter: Malfomations of cortical development and epilepsy 
  Page 47 - 62Dobyns WB, Leventer RJ, Guerrini R
• Swaiman's Pediatric Neurology: Principles and Practive. 
  Chapter: Overview of disorders of brain development (120-124), Disorders of brain size (173-201), Malformations of Cortical Development (202-231), Introduction to Genetics (277-306) 
  Dobyns WB, Guerrini R, Leventer RLEditors: Swaiman KF, Ashwal S, Ferriero D, Schor N.Elsevier, PhiladelphiaEdition 5,
• Absence makes the search grow longer. 
  Dobyns WBAm J Hum Genet
• Neurology. 
  Chapter: Walker-Warburg syndrome 
  Dobyns WB
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Lectures

• Interneuronopathy? 
  35th Annual Meeting of the Child Neurology Society, Symposium IV
• Grinding away at the molar tooth malformation: using phenotypes and then genotypes to uncover a functional biological network. 
  J.P.Kennedy Intellectual Disabilities Research Center
• The phenotype and genetics of congenital microcephaly. 
  Paediatric Neuroradiology: A Clinically Applied Study Day
• Lissencephaly and subcortical band heterotopia. 
  Multiple Locations
• What does this report mean? Mutation or polymorphism?. 
  31 st Annual Meeting of the Child Neurology Society
• Genetics and epilepsy. 
  Neurology Residents Scholar Program
• The pathogenesis of polymicrogyria: genetic and vascular causes. 
  6 th INMED/TINS Conference
• Genetic insights of posterior fossa malformations. 
  Institute of Human Genetics, Heidelberg University
• Clinical and genetic insights of posterior fossa malformations. 
  European Society of Magnetic Resonance in Neuropediatrics 9 th Congress
• Insights from genetic analyses of polymicrogyria. 
  Multiple Locations
• Overview and approach to common brain malformations. 
  Department of Pediatrics, Michael Reese Hospital
• The relationship between CNVs, genome environment and human phenotypes. 
  Multiple Locations, 2009
• Human head size and primary microcephaly: from 3 Mya to now. 
  Multiple locations, 2005
• Overview of human brain malformations: common malformations and common mistakes. 
  The Children’s Hospital
• The classification of lissencephaly and related cortical malformations by genetics and imaging. 
  Catholic University
• ARX-associated phenotypes. 
  University of Pisa and Scientific Institute Stella Maris
• The genetic basis of lissencephaly and neuronal migration. 
  Indiana University School of Medicine
• Where has all the GABA gone? ARX, malformations,epilepsy, mental retardation and pleiotropy. 
  Multiple locations, 2003, 2004, 2005, 2006, 2007
• The long and winding road: the role of gene discovery in human brain malformations. 
  2003 Pediatric Academic Societies’ Annual Meeting
• ARX and pleiotropy, or why you really need your GABAergic interneurons. 
  10th Sara Hertafeld Memorial Lecture, University of Rochester Medical Center
• From Baylor to here and back again: The Miller-Dieker story comes (almost) full circle. 
  Department of Molecular and Human Genetics, Baylor College of Medicine
• Microcephaly. 
  The Children’s Medical Center
• Walker-Warburg syndrome: clinical manifestations and proposed diagnostic criteria in CMD associated with congenital brain and eye malformations. 
  International Symposium on Congenital Muscular Dystrophy
• The genetics of autism. 
  DePaul University College of Law
• Bilateral frontoparietal polymicrogyria and related disorders. 
  Congenital Muscular Dystrophy Workshop
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