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Human Mutation|October 13, 2018
ClinVar database of global familial hypercholesterolemia-associated DNA variantsMichael A Iacocca, Joana R Chora, Alain Carrié, et al.Human Mutation|October 10, 2018
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseasesGiovanna Nicora, Ivan Limongelli, Patrick Gambelli, et al.Human Mutation|October 11, 2018
Framework for microRNA variant annotation and prioritization using human population and disease datasetsNinad Oak, Rajarshi Ghosh, Kuan-Lin Huang, et al.Human Mutation|May 5, 2017
Critical points for an accurate human genome analysisStefan J White, Jeroen F J Laros, Egbert Bakker, et al.Human Mutation|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challengeNatàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.Human Mutation|May 22, 2019
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestryTara M Friebel, Irene L Andrulis, Judith Balmaña, et al.Human Mutation|May 23, 2019
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia majorPavlos Fanis, Ioanna Kousiappa, Marios Phylactides, et al.Human Mutation|May 23, 2019
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domainsLaurens Wiel, Coos Baakman, Daan Gilissen, et al.Human Mutation|May 21, 2019
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assayDustin Shigaki, Orit Adato, Aashish N Adhikari, et al.Human Mutation|May 21, 2019
Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterationsAditi Garg, Debnath PalPageof 583