Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 · European Journal of Human Genetics · 101 citations
https://doi.org/10.1038/s41431-021-00859-0
J
José Garcia‐Pelaez
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto(PT)
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José Garcia‐Pelaez is an academic researcher from i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto. The author has contributed to research in topics: Genomics and Rare Diseases & Genetic factors in colorectal cancer & Inflammatory Bowel Disease. The author has an h-index of 12, co-authored 31 publications.
ORCID: 0000-0003-0677-8908Papers by this author
worksA systematic review of genetic mutations in pulmonary arterial hypertension
2017 · BMC Medical Genetics · 75 citations
https://doi.org/10.1186/s12881-017-0440-5
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
2025 · Nature Medicine · 32 citations
https://doi.org/10.1038/s41591-024-03420-w
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
2023 · Human Genomics · 26 citations
https://doi.org/10.1186/s40246-023-00485-5
A systematic review and functional bioinformatics analysis of genes associated with Crohn’s disease identify more than 120 related genes
2022 · BMC Genomics · 18 citations
https://doi.org/10.1186/s12864-022-08491-y
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
2021 · European Journal of Human Genetics · 14 citations
https://doi.org/10.1038/s41431-021-00901-1
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