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Human Mutation|April 12, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literatureMarie-Laure Vuillaume, Marie-Pierre Moizard, Sylvie Rossignol, et al.Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.Human Mutation|December 19, 2009
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1Mark Drost, Jos e B M Zonneveld, Linda van Dijk, et al.Human Mutation|January 16, 2010
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer familiesSylvia De Brakeleer, Jacques De Grève, Remy Loris, et al.Human Mutation|January 7, 2010
Inferring the functional effects of mutation through clusters of mutations in homologous proteinsPeng Yue, William F Forrest, Joshua S Kaminker, et al.Human Mutation|September 21, 2016
Am I My Family's Keeper? Disclosure Dilemmas in Next-Generation SequencingRoel H P Wouters, Rhodé M Bijlsma, Margreet G E M Ausems, et al.Human Mutation|January 28, 2010
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE studyAke Borg, Robert W Haile, Kathleen E Malone, et al.Human Mutation|January 28, 2010
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotypeIsabelle Perrault, Sylvain Hanein, Xavier Gerard, et al.Human Mutation|September 27, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsKoutaro Yokote, Sirisak Chanprasert, Lin Lee, et al.Pageof 574