Ingrid A. Holm

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Yiping Shen, Kira A. Dies, Ingrid A. Holm et al. · PEDIATRICS · 2010 · 394 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Gail P. Jarvik, Laura M. Amendola, Jonathan S. Berg et al. · The American Journal of Human Genetics · 2014 · 377 citations · Full text

Life Sciences, Genetics, Psychology +13

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan‐Birsoy, Jaclyn B. Murry, Kalotina Machini et al. · The American Journal of Human Genetics · 2019 · 307 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14