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.
Papers
More filters
Journal ArticleDOI
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Diane D. Shao,Rachel Straussberg,Rachel Straussberg,Hind Ahmed,Amjad Khan,Songhai Tian,R. Sean Hill,R. Sean Hill,Richard S. Smith,Amar J. Majmundar,Najim Ameziane,Jennifer E. Neil,Jennifer E. Neil,Edward Yang,Amal Al Tenaiji,Saumya Shekhar Jamuar,Saumya Shekhar Jamuar,Thorsten M. Schlaeger,Muna Al-Saffar,Muna Al-Saffar,Iris Hovel,Aisha M. Al-Shamsi,Lina Basel-Salmon,Lina Basel-Salmon,Achiya Z. Amir,Achiya Z. Amir,Lariza M. Rento,Lariza M. Rento,Jiin Ying Lim,Jiin Ying Lim,Indra Ganesan,Shirlee Shril,Gilad D. Evrony,Gilad D. Evrony,A. James Barkovich,Peter Bauer,Friedhelm Hildebrandt,Min Dong,Guntram Borck,Christian Beetz,Lihadh Al-Gazali,Wafaa Eyaid,Christopher A. Walsh,Christopher A. Walsh +43 more
TL;DR: In this article, a homozygous loss-of-function variant in EMC10 causes a novel syndromic neurodevelopmental phenotype, which is likely the result of a hypermutable site and arose on distinct founder haplotypes.
Journal ArticleDOI
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline Dias,Rolph Pfundt,Tjitske Kleefstra,Janneke Shuurs-Hoeijmakers,Elles M. J. Boon,Johanna M. van Hagen,Petra J. G. Zwijnenburg,Marjan M. Weiss,Boris Keren,Cyril Mignot,Arnaud Isapof,Karin Weiss,Tova Hershkovitz,Maria Iascone,Silvia Maitz,René G. Feichtinger,Dieter Kotzot,Johannes A. Mayr,Tawfeg Ben-Omran,Laila Mahmoud,Lynn Pais,Christopher A. Walsh,Christopher A. Walsh,Vandana Shashi,Jennifer A. Sullivan,Nicholas Stong,François Lecoquierre,Anne-Marie Guerrot,Aude Charollais,Lance H. Rodan +29 more
TL;DR: In this article, the authors present a comprehensive genetic and phenotypic description of 11 individuals who have been identified to carry de novo variants in TCF7L2, both truncating and missense.
Journal ArticleDOI
Characterization of Rho-GDIgamma and Rho-GDIalpha mRNA in the developing and mature brain with an analysis of mice with targeted deletions of Rho-GDIgamma.
TL;DR: In this article, the expression patterns of Rho-GDIgamma and RhoGDIalpha were almost identical in the brain with expression in the developing and mature cerebral cortex, striatum, and hippocampus.
Journal ArticleDOI
Expanding the clinical spectrum of biallelic ZNF335 variants
Katrien Stouffs,Andrew B. Stergachis,Tim Vanderhasselt,Alice Dica,Sandra Janssens,Laura Vandervore,Alexander Gheldof,Olaf Bodamer,Kathelijn Keymolen,Sara Seneca,Inge Liebaers,Divya Jayaraman,Haley E. Hill,Jennifer N. Partlow,Jennifer N. Partlow,Christopher A. Walsh,Anna Jansen +16 more
TL;DR: Two additional affected individuals with biallelic ZNF335 variants are described, 1 individual with a homozygous c.1399 T > C, p.(Cys467Arg) variant, and a second individual with compound heterozygotes c.2171_2173delTCT, p.)Phe724del) and c.3998AGlu1333Gly variants with the latter variant predicted to affect splicing.
Journal ArticleDOI
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
Catherine A. Brownstein,Richard S. Smith,Lance H. Rodan,Mark P. Gorman,Margaret A. Hojlo,Emily A. Garvey,Jianqiao Li,Kristin Cabral,Joshua J. Bowen,Abhijit S. Rao,Casie A. Genetti,Devon Carroll,Emma A. Deaso,Pankaj B. Agrawal,Jill A. Rosenfeld,Weimin Bi,Weimin Bi,Jennifer L. Howe,Dimitri J. Stavropoulos,Adam W. Hansen,Hesham M. Hamoda,Ferne Pinard,Annmarie Caracansi,Christopher A. Walsh,Christopher A. Walsh,Eugene J. D'Angelo,Eugene J. D'Angelo,Alan H. Beggs,Alan H. Beggs,Mehdi Zarrei,Richard A. Gibbs,Stephen W. Scherer,Stephen W. Scherer,David C. Glahn,Joseph Gonzalez-Heydrich +34 more
TL;DR: In this article, an 18-year-old boy had a decline in cognitive functioning over the course of a year and subsequently presented with catatonia, auditory and visual hallucinations, paranoia, aggression, mood dysregulation, and disorganized thoughts.