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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Journal ArticleDOI
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Annapurna Poduri,Annapurna Poduri,Sameer S. Chopra,Sameer S. Chopra,Sameer S. Chopra,Edward G. Neilan,Edward G. Neilan,P. Christina Elhosary,Manju A Kurian,Manju A Kurian,Esther Meyer,Brenda J. Barry,Omar Khwaja,Omar Khwaja,Mustafa A. Salih,Tommy Stödberg,Ingrid E. Scheffer,Eamonn R. Maher,Mustafa Sahin,Bai-Lin Wu,Gerard T. Berry,Gerard T. Berry,Christopher A. Walsh,Jonathan Picker,Jonathan Picker,Sanjeev V. Kothare,Sanjeev V. Kothare +26 more
TL;DR: The results suggest that loss of PLCβ1 function is one cause of MMPEI, consistent with prior studies in a Plcb1 knockout mouse model that develops early onset epilepsy.
Journal ArticleDOI
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Anas M. Alazami,Amr Al-Saif,Abdulaziz Alsemari,Saeed Bohlega,Soumaya Zlitni,Fatema Alzahrani,Prashant Bavi,Namik Kaya,Dilek Colak,Hanif Khalak,Andy Baltus,Borut Peterlin,Sumita Danda,Kailash P. Bhatia,Susanne A. Schneider,Nadia Sakati,Christopher A. Walsh,Futwan Al-Mohanna,Brian F. Meyer,Fowzan S. Alkuraya,Fowzan S. Alkuraya +20 more
TL;DR: The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease.
Journal ArticleDOI
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia
Bernard S. Chang,Jenny Ly,B. Appignani,Adria Bodell,Kira Apse,R. S. Ravenscroft,Volney L. Sheen,M. J. Doherty,David B. Hackney,Margaret O'Connor,Albert M. Galaburda,Christopher A. Walsh +11 more
TL;DR: The neuronal migration disorder of periventricular nodular heterotopia is associated with an impairment in reading skills despite the presence of normal intelligence, and the results with anatomic and clinical features of this disorder are correlated.
Journal ArticleDOI
SLC25A22 is a novel gene for migrating partial seizures in infancy
Annapurna Poduri,Annapurna Poduri,Erin L. Heinzen,Vida Chitsazzadeh,Francesco M. Lasorsa,P. Christina Elhosary,Christopher M. LaCoursiere,Emilie Martin,Christopher J. Yuskaitis,Robert Sean Hill,Kutay Deniz Atabay,Brenda J. Barry,Jennifer N. Partlow,Fahad A. Bashiri,Radwan M. Zeidan,Salah A. Elmalik,Mohammad M. Kabiraj,Sanjeev V. Kothare,Sanjeev V. Kothare,Tommy Stödberg,Amy McTague,Amy McTague,Manju A. Kurian,Manju A. Kurian,Ingrid E. Scheffer,A. James Barkovich,Ferdinando Palmieri,Mustafa A. Salih,Christopher A. Walsh,Christopher A. Walsh +29 more
TL;DR: To identify a genetic cause for migrating partial seizures in infancy (MPSI), a large number of patients with MPSI are diagnosed with atypical central giant cell granuloma.
Journal ArticleDOI
Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size
Matthew B. Johnson,Matthew B. Johnson,Xingshen Sun,Andrew Kodani,Andrew Kodani,Rebeca Borges-Monroy,Rebeca Borges-Monroy,Kelly M. Girskis,Kelly M. Girskis,Steven C. Ryu,Steven C. Ryu,Peter P. Wang,Peter P. Wang,Komal Patel,Dilenny M. Gonzalez,Dilenny M. Gonzalez,Yu Mi Woo,Ziying Yan,Bo Liang,Richard S. Smith,Richard S. Smith,Manavi Chatterjee,Daniel Coman,Xenophon Papademetris,Lawrence H. Staib,Fahmeed Hyder,Joseph B. Mandeville,P. Ellen Grant,Kiho Im,Hojoong Kwak,John F. Engelhardt,Christopher A. Walsh,Christopher A. Walsh,Byoung-Il Bae,Byoung-Il Bae,Byoung-Il Bae +35 more
TL;DR: Genome editing is used to create a germline knockout of Aspm in the ferret, suggesting an evolutionary mechanism by which ASPM regulates cortical expansion by controlling the affinity of ventricular radial glial cells for the ventricular surface, thus modulating the ratio of Ventricular radial Glia, the most undifferentiated cell type, to outer radial glia, a more differentiated progenitor.