Genetics

SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.

A critical review of the impact of candidate copy number variants on autism spectrum disorder.

Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons.

A deep learning model for prediction of autism status using whole-exome sequencing data.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.

Gene expansions contributing to human brain evolution.

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.