Lídia Feliubadaló

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Jesús Purroy, F. Rousaud et al. · Nature Genetics · 1999 · 335 citations

Medicine, Genetics, Molecular Genetics +4

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

David Torrents, Juha Mykkänen, Marta Pineda et al. · Nature Genetics · 1999 · 316 citations

Life Sciences, Genetics, Molecular Genetics +2

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 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Elizabeth Page, Elizabeth Bancroft, Mark N. Brook et al. · European Urology · 2019 · 240 citations · Full text

Medicine, Oncology, Urology +17

Prediction of Breast and Prostate Cancer Risks in Male <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Using Polygenic Risk Scores

Julie Lecarpentier, Valentina Silvestri, Karoline Kuchenbaecker et al. · Journal of Clinical Oncology · 2017 · 181 citations · Full text

Medicine, Genetics, Oncology +17