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Nature Neuroscience|December 7, 2010
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessShahid M Baig, Alexandra Koschak, Andreas Lieb, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
American Journal of Medical Genetics. Part A|May 2, 2013
A de novo GLI3 mutation in a patient with acrocallosal syndromeLeonie Speksnijder, Titia E Cohen-Overbeek, Maarten F C M Knapen, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Human Molecular Genetics|January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneSolaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.
Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, 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 SLC6A6 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.
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