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Human Mutation|April 1, 2020
dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictionsChang Li, Chengcheng Mou, Michael D Swartz, et al.Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.Human Mutation|October 8, 2020
FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screeningRyan L Subaran, William C L StewartHuman Mutation|December 31, 2020
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafishElizabeth A Terhune, Melissa T Cuevas, Anna M Monley, et al.Human Mutation|December 16, 2020
Functional and clinical implications of genetic structure in 1686 Italian exomesGiovanni Birolo, Serena Aneli, Cornelia Di Gaetano, et al.Human Mutation|December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceSarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.Human Mutation|December 21, 2020
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthoodTakayasu Mori, Motoko Chiga, Takuya Fujimaru, et al.Human Mutation|December 16, 2020
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancerPaula S Felicio, Rebeca S Grasel, Natalia Campacci, et al.Human Mutation|October 15, 2020
USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631Weiyuan Ye, Ya Wang, Sasa Hou, et al.Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.Pageof 582