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Human Mutation|March 25, 2022
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypesAlayne P Meyer, Megan E Forrest, Stefan Nicolau, et al.Human Mutation|February 28, 2022
Discovery of over 200 new and expanded genetic conditions using GeneMatcherK McWalter, E Torti, M Morrow, et al.Human Mutation|March 10, 2022
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasiaTess Holling, Gandham S Bhavani, Leonie von Elsner, et al.Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, et al.Human Mutation|June 26, 2019
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cellsAbhijit Rath, Akriti Mishra, Victoria Duque Ferreira, et al.Human Mutation|June 26, 2019
Novel ACTN1 variants in cases of thrombocytopeniaAnne Vincenot, Paul Saultier, Shinji Kunishima, et al.Human Mutation|September 22, 2021
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathiesZe-Xu Chen, Tian-Hui Chen, Min Zhang, et al.Human Mutation|July 9, 2019
Assessing predictions on fitness effects of missense variants in calmodulinJing Zhang, Lisa N Kinch, Qian Cong, et al.Human Mutation|July 9, 2019
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genesVeronika Niederlova, Martin Modrak, Oksana Tsyklauri, et al.Human Mutation|June 30, 2019
Extension of the Pompe mutation database by linking disease-associated variants to clinical severityMonica Y Niño, Stijn L M In 't Groen, Atze J Bergsma, et al.Pageof 583