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Human Mutation|July 14, 2017
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiologyNan Wang, Yeting Zhang, Erika Gedvilaite, et al.Human Mutation|March 4, 2016
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number GainsHeleen Masset, Matthew S Hestand, Hilde Van Esch, et al.Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.Human Mutation|December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic MutationsAlessandro Liquori, Christel Vaché, David Baux, et al.Human Mutation|May 10, 2016
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdbPowell Patrick Cheng Tan, Sanja Rogic, Anton Zoubarev, et al.Human Mutation|May 29, 2016
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATMCaro-Lyne DesRoches, Theodora Bruun, Peixiang Wang, et al.Human Mutation|November 14, 2014
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndromeChika Sakai, Seiji Yamaguchi, Masayuki Sasaki, et al.Human Mutation|November 18, 2014
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfectaSung Yoon Cho, P V Asharani, Ok-Hwa Kim, et al.Human Mutation|November 25, 2014
High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disordersMichal B Kovac, Monika Kovacova, Hynek Bachraty, et al.Human Mutation|November 5, 2014
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsyMelissa van Kranenburg, Marianne Hoogeveen-Westerveld, Mark NellistPageof 583