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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.Nature Genetics|August 30, 2016
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.Pageof 17