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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 Stewart
Human 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.
Human Mutation|July 5, 2022
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperonesCristina Segovia-Falquina, Alicia Vilas, Fátima Leal, et al.
Human Mutation|November 30, 2020
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophyElisa Giorgio, Emanuela Pesce, Elisa Pozzi, et al.
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