Miguel de la Hoya

Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i> / <i>2</i> (CIMBA)

Nasim Mavaddat, Daniel Barrowdale, Irene L. Andrulis et al. · Cancer Epidemiology Biomarkers & Prevention · 2012 · 649 citations · Full text

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Ian PM Tomlinson, Emily L. Webb, Luis G. Carvajal‐Carmona et al. · Nature Genetics · 2008 · 561 citations

Cancer Susceptibility, Genome-wide Association Study, Chromosomes 10P14 +10

Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer

Timothy R. Rebbeck, Nandita Mitra, Fei Wan et al. · JAMA · 2015 · 484 citations · Full text

Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman et al. · Human Mutation · 2018 · 298 citations · Full text

Brca1 Mutations, Genetic Testing, Genetics +17

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 254 citations · Full text

Acmg/amp Framework, Systems Biology, Functional Genomics +9