Author
Illumina (United States)
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey
The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.
Laura M. Amendola, Alison J. Coffey, Josh Lowry…·Ryan J. Taft
This paper develops a genome-wide cardiovascular disease genetic risk assessment test that includes monogenic conditions, risk alleles, pharmacogenomic variants, and polygenic risk scores, showing high performance and scalability.
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann…·Noah D. Friedman
This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.