Patrick Short

EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.

The paper identifies genetic and chemotherapeutic causes of germline hypermutation by analyzing genome-wide sequences of families with rare genetic diseases.

The paper integrates healthcare and research exome sequences to identify 28 novel developmental disorder-associated genes using a simulation-based statistical test.

The paper identifies 299 new genes associated with developmental disorders using exome data from 31,058 trios and finds many more likely remain undiscovered.

The paper identifies retrotransposition events in developmental disorders using exome sequencing data from the DDD study and shows their evolutionary constraints.

The paper maps histone modifications across thirteen human tissues during organogenesis to understand gene regulation and link noncoding mutations to developmental disorders.

The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

The paper identifies de novo mutations in fetal-brain active regulatory elements as a cause of 1-3% of neurodevelopmental disorders in patients without coding variants.