Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyKatarina Pelin, Carina Wallgren‐Pettersson, Pirta Hilpelä et al.|Proceedings of the National Academy of Sciences|1999Cited by 332
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Siddharth Banka, Sanjeev S. Bhaskar et al.|The American Journal of Human Genetics|2017Cited by 141
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Laurent Pasquier, Stéphanie Valence et al.|European Journal of Human Genetics|2023Cited by 9