Carles Garcia-Linares

The European Genome-phenome Archive in 2021

Mallory Freeberg, Lauren A. Fromont, Anna Foix et al. · Nucleic Acids Research · 2021 · 159 citations · Full text

Computing, Biomedical Informatics, Health Informatics +15

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

Ludwine M. Messiaen, J. Vogt, Kathrin Bengesser et al. · Human Mutation · 2010 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

Carles Garcia-Linares, Juana Fernández‐Rodríguez, Ernest Terribas et al. · Human Mutation · 2010 · 83 citations · Full text

Medicine, Genetics, Molecular Genetics +11

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

Probe-Based Quantitative PCR Assay for Detecting Constitutional and Somatic Deletions in the NF1 Gene: Application to Genetic Testing and Tumor Analysis

Ernest Terribas, Carles Garcia-Linares, Conxi Lázaro et al. · Clinical Chemistry · 2013 · 13 citations · Full text

Medicine, Genetics, Molecular Genetics +17