Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
Genetics
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.
Differential effects by sex with Kmt5b loss.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Tissue-specific enhancer functional networks for associating distal regulatory regions to disease.
MIPP-Seq: Ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.
Whole-genome analysis of de novo and polymorphic retrotransposon insertions in autism spectrum disorder.
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