C. Somerville

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

J. R. MacDonald, J. Howe, B. Trost, 2022, medRxiv.

Patient-facing digital tools for delivering genetic services: a systematic review

Y. Bombard, R. Hayeems, Salma Shickh, 2022, Journal of Medical Genetics.

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Ayman Al Baz, John Wei, J. Sebat, 2022, Cell.

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing

B. Trost, B. Thiruvahindrapuram, A. Chan, 2022, Human Genetics.

A Model for the Integration of Genome Sequencing into a Paediatric Cardiology Clinic.

R. Jobling, Eriskay Liston, R. Hayeems, 2022, The Canadian journal of cardiology.

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

Raymond H. Kim, Sean DeLong, Roozbeh Manshaei, 2020, bioRxiv.

Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients.

Marci L. B. Schwartz, C. Somerville, Raymond H Kim, 2023, Future cardiology.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

R. Jobling, R. Chaturvedi, Ronni Teitelbaum, 2024, European journal of human genetics : EJHG.