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Human Mutation|June 4, 2021
Biallelic variants in RNU12 cause CDAGS syndromeChao Xing, Mohammed Kanchwala, Jonathan J Rios, et al.Human Mutation|January 7, 2021
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinismCécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex, et al.Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.Human Mutation|April 6, 2020
Documentation of clinically relevant genomic biomarker allele frequencies in the next-generation FINDbase worldwide databaseFotios Kounelis, Alexandros Kanterakis, Andreas Kanavos, et al.Human Mutation|January 26, 2020
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signalingXiaomin Liu, Guorui Hu, Jun Ye, et al.Human Mutation|March 21, 2020
A protective polymorphism in MMP16, improved blood gas levels, and chronic obstructive pulmonary diseases: Family and two population-based studiesZili Zhang, Jian Wang, Zeguang Zheng, et al.Human Mutation|January 4, 2020
An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activityKejia Zhang, Jenna M Lentini, Christopher T Prevost, et al.Human Mutation|January 4, 2020
Hermansky-Pudlak syndrome: Mutation updateMarjan Huizing, May C V Malicdan, Jennifer A Wang, et al.Human Mutation|January 4, 2020
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.Pageof 583