Motor difficulties in 16p11.2 copy number variation.
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.
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