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Human Mutation|July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney DiseaseJulia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.Human Mutation|April 25, 2015
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm GenesDorien Proost, Geert Vandeweyer, Josephina A N Meester, et al.Human Mutation|July 25, 2016
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same FamilyDino Maglic, Joshi Stephen, May Christine V Malicdan, et al.Human Mutation|July 25, 2016
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and ParkinsonismElena Sanchez, Hossein Darvish, Roxana Mesias, et al.Human Mutation|June 23, 2015
KIAA0586 is Mutated in Joubert SyndromeRuxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, et al.Human Mutation|May 23, 2020
Identification of pathogenic variants of ERLEC1 in individuals with Class III malocclusion by exome sequencingChunbao Rao, Biyang Guan, Dong Luo, et al.Human Mutation|May 26, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsySarah H Elsea, Alexander Solyom, Kirt Martin, et al.Human Mutation|June 25, 2020
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant databaseCeren Tunca, Tuncay Şeker, Fulya Akçimen, et al.Human Mutation|June 13, 2020
Genotype-phenotype associations in a large PRPH2-related retinopathy cohortMelissa J Reeves, Kerry E Goetz, Bin Guan, et al.Human Mutation|September 12, 2021
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase geneJohannes Häberle, Marvin B Moore, Nantaporn Haskins, et al.Pageof 583