Fergus J. Couch
Mayo Clinic(US)Mayo Clinic in Arizona(US)Mayo Clinic in Florida(US)
Publications by Year
Research Areas
BRCA gene mutations in cancer, CRISPR and Genetic Engineering, Genetics, Bioinformatics, and Biomedical Research, Nutrition, Genetics, and Disease, DNA Repair Mechanisms
Most-Cited Works
- → BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance(2015)220 cited
- → Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification(2019)150 cited
- → FANCMc.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor(2015)93 cited
- → The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium(2017)78 cited
- → Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study(2017)59 cited
- → Generation of an Integrated Transcription Map of theBRCA2Region on Chromosome 13q12–q13(1996)35 cited