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Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.Nephron. Physiology|February 26, 2013
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsGraciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, et al.European Journal of Human Genetics : EJHG|July 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorderPalak Singhal, Tzung-Chien Hsieh, Nadja Ehmke, et al.Pageof 5