Carles García

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 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Steven Laurie, Davide Piscia, Leslie Matalonga et al. · Human Mutation · 2022 · 62 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer et al. · European Journal of Human Genetics · 2021 · 14 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Adam Jackson, Sheng‐Jia Lin, Elizabeth A. Jones et al. · Human Genetics and Genomics Advances · 2023 · 12 citations · Full text

Dentistry, Oral Biology, Oral Pathology +15