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Human Mutation|January 31, 2014
Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB geneMartin de Boer, Karin van Leeuwen, Judy Geissler, et al.Human Mutation|January 31, 2014
Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipelineIn-Hee Lee, Kyungjoon Lee, Michael Hsing, et al.Human Mutation|April 23, 2014
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystoniaAgnete Fossbakk, Rune Kleppe, Per M Knappskog, et al.Human Mutation|April 4, 2017
Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4Qifang Xu, Qingling Tang, Panagiotis Katsonis, et al.Human Mutation|April 6, 2017
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencingDaniel M Borràs, Rolf H A M Vossen, Michael Liem, et al.Human Mutation|February 2, 2017
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib AnomaliesChi-Fan Yang, Chung-Hsing Wang, Weng Siong H'ng, et al.Human Mutation|March 19, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutationsRenata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, et al.Human Mutation|April 23, 2017
Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variantsMurni Tio, Rujing Wen, Yih Lin Lim, et al.Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.Human Mutation|March 23, 2019
Screening for rare epigenetic variations in autism and schizophreniaParas Garg, Andrew J SharpPageof 583