Genetics

Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays.

Next-Generation Sequencing in Autism Spectrum Disorder.

Regulatory genes and pathways disrupted in autism spectrum disorders.

Outgroup machine learning approach identifies single nucleotide variants in noncoding DNA associated with autism spectrum disorder.

A reference haplotype panel for genome-wide imputation of short tandem repeats.

Identification of common genetic risk variants for autism spectrum disorder.

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.

Recessive rare variants in deoxyhypusine synthase, an enzyme involved in the synthesis of hypusine, are associated with a neurodevelopmental disorder.

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