José Garcia‐Pelaez

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

José Garcia‐Pelaez, Rita Barbosa‐Matos, Silvana Lobo et al. · The Lancet Oncology · 2022 · 34 citations · Full text

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Steven Laurie, Kiran Polavarapu, Nika Schuermans et al. · Nature Medicine · 2025 · 29 citations · Full text

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 26 citations · Full text

PubTerm: a web tool for organizing, annotating and curating genes, diseases, molecules and other concepts from PubMed records

José Garcia‐Pelaez, David Rodríguez, Roberto Medina-Molina et al. · Database · 2018 · 23 citations · Full text