Ileena Mitra

Genome-wide patterns of de novo tandem repeat mutations and their contribution to autism spectrum disorders.

This study identifies de novo tandem repeat mutations in ASD probands and shows they are more prevalent, larger, and evolutionarily deleterious compared to unaffected siblings.

Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

The paper quantifies autism recurrence risk by detecting paternal sperm mosaicism through single molecule genotyping and whole genome sequencing.

A reference haplotype panel for genome-wide imputation of short tandem repeats

The paper creates a reference haplotype panel for imputing STRs from SNP data, showing high concordance and increased power for STR association studies.