Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
2010 · Nature · 810 citations
https://doi.org/10.1038/nature08979
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Alison J. Coffey
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Alison J. Coffey is an academic researcher from Illumina (United States). The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & CRISPR and Genetic Engineering. The author has an h-index of 26, co-authored 64 publications.
ORCID: 0000-0002-1338-8513Papers by this author
worksA detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
2015 · European Journal of Human Genetics · 119 citations
https://doi.org/10.1038/ejhg.2014.283
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
2019 · Scientific Reports · 106 citations
https://doi.org/10.1038/s41598-019-46649-z
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
2024 · JAMA · 84 citations
https://doi.org/10.1001/jama.2024.19662
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
2024 · European Journal of Human Genetics · 8 citations
https://doi.org/10.1038/s41431-024-01600-3
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases
2023 · Cell Genomics · 6 citations
https://doi.org/10.1016/j.xgen.2023.100258
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