The contribution of de novo coding mutations to meningomyelocele - Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; et al. (Nature (London), 2025)
Keywords: 13; 13/109; 14/1; 38; 38/39; 38/47; 45/23; 45/77; 631/208/135; 631/80/304; 64/114; 692/308/2056; Actin; Animals; Autism; Chromatin; Cohort Studies; Confidence intervals; Cytoskeleton; Disease; Embryogenesis; Embryonic growth stage; Female; Gene disruption; Genes; Genetic Predisposition to Disease - genetics; Health risk assessment; Health risks; Humanities and Social Sciences; Humans; Hydrocephalus; Male; Meningomyelocele - genetics; Microtubules - metabolism; Missense mutation; multidisciplinary; Mutation; Mutation - genetics; Mutation, Missense - genetics; Netrin-1; Netrin-1 - metabolism; Neural tube; Recruitment; Risk; Science; Science (multidisciplinary); Signal transduction; Signal Transduction - genetics; Spina bifida; Xenopus laevis - embryology; Xenopus laevis - genetics