A genome-wide scan statistic framework for whole-genome sequence data analysis.
Genetics
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
Evidence of assortative mating in autism spectrum disorder.
Recessive gene disruptions in autism spectrum disorder.
Generation of zebrafish mutants in homologs of ASD risk genes
To facilitate studies by laboratories with specialized expertise in neural development and brain function, Harold Burgess will create zebrafish lines with individual mutations in five high-confidence ASD risk genes and will provide them to the research community as an unrestricted resource.
Using newly developed computational tools to assess the contribution of tandem repeat mutations to autism risk
De novo mutations contribute to a large fraction of autism spectrum disorders (ASD) risk, but the contribution of complex variant types remains largely unexplored. Melissa Gymrek aims to utilize her recently developed novel computational tools to evaluate the role of genetic variation in repetitive regions of the genome in ASD.
Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways.
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays.
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