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Human Mutation|October 13, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical InterpretationRolando Hernández Trapero, Mihaly Badonyi, Lukas Gerasimavicius, et al.Human Mutation|January 4, 2020
Elucidation of de novo small insertion/deletion biology with parent-of-origin phasingAllison H Seiden, Felix Richter, Nihir Patel, et al.Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.Human Mutation|January 4, 2020
Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia AMiguel Martín Abelleyro, Claudia Pamela Radic, Vanina Daniela Marchione, et al.Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.Human Mutation|December 11, 2019
Pred-MutHTP: Prediction of disease-causing and neutral mutations in human transmembrane proteinsA Kulandaisamy, Jan Zaucha, Ramasamy Sakthivel, et al.Human Mutation|October 31, 2019
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndromeChristopher M Watson, Philip Dean, Nick Camm, et al.Human Mutation|July 7, 2021
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencingNgoc Hieu Tran, Thanh-Huong Nguyen Thi, Hung-Sang Tang, et al.Human Mutation|July 15, 2021
YMrCA: Improving Y-chromosomal ancestor time estimation for DNA kinship researchSofie Claerhout, Simon Vanpaemel, Mandev S Gill, et al.Human Mutation|June 22, 2022
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-relatedMagdalena Mroczek, Inna Inashkina, Janis Stavusis, et al.Pageof 582