C
Christopher A. Walsh
Researcher at Howard Hughes Medical Institute
Publications - 470
Citations - 62520
Christopher A. Walsh is an academic researcher from Howard Hughes Medical Institute. The author has contributed to research in topics: Cerebral cortex & Microcephaly. The author has an hindex of 123, co-authored 455 publications receiving 55874 citations. Previous affiliations of Christopher A. Walsh include University of Liverpool & Newcastle University.
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in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
M. Chiara Manzini,Dimira E. Tambunan,R. Sean Hill,Timothy W. Yu,Thomas M. Maynard,Erin L. Heinzen,Kevin V. Shianna,Christine Stevens,Jennifer N. Partlow,Brenda J. Barry,Jacqueline Rodriguez,Vandana Gupta,Abdel-Karim Al-Qudah,Wafaa Eyaid,Jan M. Friedman,Mustafa A. Salih,Robin D. Clark,Isabella Moroni,Marina Mora,Alan H. Beggs,Stacey Gabriel,Christopher A. Walsh +21 more
TL;DR: In this paper, the authors combined whole-exome sequencing (WES) with homozygosity analysis of consanguineous pedigrees to identify genetic mutations responsible for Walker-Warburg syndrome (WWS), a genetically heterogeneous autosomal-recessive disorder that severely affects the development of the brain, eyes, and muscle.
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Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Thierry Bienvenu,V. des Portes,N. McDonell,Alain Carrié,Ramzi Zemni,Philippe Couvert,H.H. Ropers,Claude Moraine,J.H.L.M. van Bokhoven,J. P. Fryns,Kristina M. Allen,Christopher A. Walsh,Joëlle Boué,Axel Kahn,Jamel Chelly,Cherif Beldjord +15 more
TL;DR: A novel missense mutation in exon 2 of PAK3 gene (R67C) is identified that is predicted to play a major role in the GTPases binding and stimulation of Pak activity in MRX47 males.
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A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly
Ganeshwaran H. Mochida,Muhammad Mahajnah,Muhammad Mahajnah,Anthony D. Hill,Lina Basel-Vanagaite,Lina Basel-Vanagaite,Danielle Gleason,R. Sean Hill,Adria Bodell,Moira Crosier,Rachel Straussberg,Christopher A. Walsh,Christopher A. Walsh +12 more
TL;DR: The authors identified a genetic locus for autosomal-recessive nonsyndromic intellectual disability associated with variable postnatal microcephaly through homozygosity mapping of a consanguineous Israeli Arab family.
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Smooth, rough and upside-down neocortical development.
TL;DR: Reelin, which is mutated in a third type of lissencephaly, may represent a unifying link because it encodes an extracellular protein that regulates neuronal migration and may also regulate the microtubule cytoskeleton.
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Telencephalic Neural Progenitors Appear To Be Restricted to Regional and Glial Fates before the Onset of Neurogenesis
TL;DR: These studies suggest that by embryonic day 9.5, forebrain clones are primarily restricted to territories within anatomically demarcated regional boundaries, such as the cortex, striatum and hypothalamus, and a subset of clones that appeared to be composed entirely of glia is observed.