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Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.Epilepsia|January 29, 2013
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsyDennis Lal, Holger Trucks, Rikke S Møller, et al.Nature Genetics|March 17, 2015
Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migrationJames Curtis, Yang Luo, Helen L Zenner, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.Human Molecular Genetics|February 19, 2013
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionValeska Frank, Sandra Habbig, Malte P Bartram, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, et al.Elife|September 20, 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Louise A Stephen, Hasan Tawamie, Gemma M Davis, et al.Journal of Medical Genetics|December 4, 2020
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in <i>BRCA1/2</i>: results of the observational AGO-TR1 study (NCT02222883)Jan Hauke, Philipp Harter, Corinna Ernst, et al.Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.Plos One|August 9, 2007
Systematic association mapping identifies NELL1 as a novel IBD disease geneAndre Franke, Jochen Hampe, Philip Rosenstiel, et al.Pageof 52