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Journal of Medical Genetics|November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.Nature Communications|February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidineVíctor Faundes, Martin D Jennings, Siobhan Crilly, et al.American Journal of Human Genetics|February 3, 2016
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityPaul R Kasher, Katherine E Schertz, Megan Thomas, et al.European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.Arthritis and Rheumatism|May 14, 2013
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferationAlexandre Belot, Paul R Kasher, Eleanor W Trotter, et al.Nature Genetics|September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.Pageof 5