Loss-of-function de novo mutations play an important role in severe human neural tube defects - Lemay, Philippe; Guyot, Marie-Claude; Tremblay, Élizabeth; Dionne-Laporte, Alexandre; Spiegelman, Dan; Henrion, Édouard; Diallo, Ousmane; De Marco, Patrizia; Merello, Elisa; Massicotte, Christine; Désilets, Valérie; Michaud, Jacques L; et al. (Journal of medical genetics, 2015)
Keywords: Base Sequence; Birth defects; Cohort Studies; DNA Mutational Analysis; DNA-Binding Proteins - genetics; Exome - genetics; Fetuses; Genes; Genomes; Humans; Microfilament Proteins - genetics; Molecular Sequence Data; Mutation; Neural Tube Defects - genetics; Paired Box Transcription Factors - genetics; PAX3 Transcription Factor; Receptor-Like Protein Tyrosine Phosphatases, Class 2 - genetics; Spina bifida; Transcription Factors - genetics; Vitamin B; Developmental; Genetics; Genome-wide; Complex traits