The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Short tandem repeats (STRs) are enriched in eukaryotic cis-regulatory elements and alter
gene expression, yet how they regulate transcription remains unknown. We found that STRs …

The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …

Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …

Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …

Expansion of a single repetitive DNA sequence, termed a tandem repeat (TR), is known to
cause more than 50 diseases,. However, repeat expansions are often not explored beyond …

The substantial phenotypic heterogeneity in autism limits our understanding of its genetic
etiology. To address this gap, here we investigated genetic differences between autistic …

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …