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The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing...

Adolescent Adult Autoantigens CDC2 Protein Kinase Casein Kinase II Child Chromosomal Proteins Non-Histone Cohort Studies DEAD-box RNA Helicases DNA-Binding Proteins Developmental Disabilities Exome Female Heredity Histone-Lysine N-Methyltransferase Homeodomain Proteins Humans Male Mi-2 Nucleosome Remodeling and Deacetylase Complex Middle Aged Mutation Myeloid-Lymphoid Leukemia Protein Nerve Tissue Proteins Parents Phenotype prevalence Protein Phosphatase 2C Repressor Proteins Sequence Analysis DNA Sex Characteristics Transcription Factors Young Adult ras GTPase-Activating Proteins