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Human Mutation|January 27, 2021
Relationship of DUX4 and target gene expression in FSHD myocytesJonathan Chau, Xiangduo Kong, Nam Viet Nguyen, et al.Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.Human Mutation|March 6, 2021
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/BJiayue Hu, Gustavo H B Maegawa, Xia Zhan, et al.Human Mutation|December 19, 2021
Harmonizing variant classification for return of results in the All of Us Research ProgramSteven M Harrison, Christina A Austin-Tse, Serra Kim, et al.Human Mutation|December 19, 2021
A decade of RAD51C and RAD51D germline variants in cancerJacopo Boni, Aida Idani, Carla Roca, et al.Human Mutation|November 24, 2021
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorialSarah E Hunt, Benjamin Moore, Ridwan M Amode, et al.Human Mutation|January 3, 2022
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex developmentHannah L Marko, Nadine C Hornig, Regina C Betz, et al.Human Mutation|December 9, 2021
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type IMolka Sebai, David Tulasne, Sandrine M Caputo, et al.Human Mutation|October 17, 2022
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET databaseRebecca L Margraf, Rachel Z Alexander, Makenzie L Fulmer, et al.Human Mutation|October 19, 2022
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseasesRebekkah J Hitti-Malin, Claire-Marie Dhaenens, Daan M Panneman, et al.Pageof 583