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Clinical Genetics|October 17, 2013
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotypeI Filges, E Nosova, E Bruder, et al.Nature Communications|December 23, 2015
NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani, C Cytrynbaum, B H Y Chung, et al.Pageof 5