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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.Human Mutation|May 12, 2017
Haplotype reference consortium panel: Practical implications of imputations with large reference panelsAdriana I Iglesias, Sven J van der Lee, Pieter W M Bonnemaijer, et al.Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.Human Mutation|May 12, 2017
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathyTojo Nakayama, Jiang Wu, Patricia Galvin-Parton, et al.Human Mutation|September 6, 2016
Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals with Down SyndromeErik Hefti, Jonathan Bard, Javier G BlancoHuman Mutation|May 18, 2017
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variantsLipika R Pal, Kunal Kundu, Yizhou Yin, et al.Human Mutation|May 18, 2017
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn diseaseLipika R Pal, Kunal Kundu, Yizhou Yin, et al.Pageof 583