Motor phenotypes associated with genetic neurodevelopmental disorders.
Genetics
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Discovering the gene-brain-behavior link in autism via generative machine learning.
Motor difficulties in 16p11.2 copy number variation.
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.
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