Genetics

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.

A large-scale investigation into the role of classical HLA loci in multiple types of severe infections, with a focus on overlaps with autoimmune and mental disorders.

Association of CDH11 with ASD revealed by matched-gene co-expression analysis and mouse behavioral studies.

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.

Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.

Genetic vulnerability of exposures to antenatal maternal treatments in 1- to 2-month-old infants.

A recurrent SHANK3 frameshift variant in autism spectrum disorder.

Diagnostic classification and prognostic prediction using common genetic variants in autism spectrum disorder: Genotype-based deep learning.

Autism spectrum disorders classification using genotype data: A deep learning-based predictive classifier.

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