Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
2014 · Genetics in Medicine · 335 citations
https://doi.org/10.1038/gim.2014.40
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Elizabeth Chao
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Elizabeth Chao is an academic researcher from Children's Hospital of Orange County. The author has contributed to research in topics: Genomics and Rare Diseases & BRCA gene mutations in cancer & Genetic factors in colorectal cancer. The author has an h-index of 42, co-authored 109 publications.
ORCID: 0000-0002-4082-371XPapers by this author
worksA clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
2019 · Genetics in Medicine · 212 citations
https://doi.org/10.1038/s41436-019-0633-8
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing
2013 · Genetics in Medicine · 116 citations
https://doi.org/10.1038/gim.2013.153
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification
2019 · Scientific Reports · 109 citations
https://doi.org/10.1038/s41598-019-49224-8
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
2020 · npj Precision Oncology · 86 citations
https://doi.org/10.1038/s41698-020-0109-y
Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia
2015 · Human Genome Variation · 65 citations
https://doi.org/10.1038/hgv.2015.40
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