Lídia Feliubadaló

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

Lídia Feliubadaló, Mariona Font, Jesús Purroy et al. · Nature Genetics · 1999 · 329 citations

Genetics, Biochemical Genetics, Molecular Biology +5

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

David Torrents, Juha Mykkänen, Marta Pineda et al. · Nature Genetics · 1999 · 314 citations

Protein Function, Signal Transduction, Medicine +5

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 · 231 citations · Full text

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

Mariona Font, Lídia Feliubadaló, Xavier Estivill et al. · Human Molecular Genetics · 2001 · 147 citations · Full text