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José Garcia‐Pelaez

Observed names: Garcia-Pelaez J, Garcia-Pelaez, Jose, Garcia-Pelaez, José, J. Garcia-Pelaez, Jose Garcia Pelaez, Jose Garcia-Pelaez, José Garcia‐Pelaez, José Garcia-Pelaez
ORCID: 0000-0003-0677-8908
Observed ORCID: 0000-0003-0677-8908
OpenAlex ID: A5043670430
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 · Birte Zurek, Kornelia Ellwanger, et al. · European Journal of Human Genetics · 99
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A systematic review of genetic mutations in pulmonary arterial hypertension
2017 · Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, et al. · BMC Medical Genetics · 84
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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
2025 · Steven Laurie, Wouter Steyaert, et al. · Nature Medicine · 59
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Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges
2021 · José Garcia‐Pelaez, Rita Barbosa‐Matos, et al. · Molecular Oncology · 45
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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
2022 · José Garcia-Pelaez, Rita Barbosa-Matos, et al. · The Lancet Oncology · 41
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
2023 · Burcu Yaldiz, Erdi Kucuk, et al. · Human Genomics · 30
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Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes
2021 · José Garcia-Pelaez, Rita Barbosa-Matos, et al. · European Journal of Medical Genetics · 28
PubTerm: a web tool for organizing, annotating and curating genes, diseases, molecules and other concepts from PubMed records
2018 · José Garcia-Pelaez, David Rodriguez, et al. · Database · 24
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A systematic review and functional bioinformatics analysis of genes associated with Crohn’s disease identify more than 120 related genes
2022 · Debora Garza-Hernandez, Maricruz Sepulveda-Villegas, et al. · BMC Genomics · 17
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint
2021 · Rebecca Schüle, Dagmar Timmann, et al. · European Journal of Human Genetics · 16
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer
2023 · Celina São José, José Garcia-Pelaez, et al. · Gastric Cancer · 12
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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
2023 · Adam Jackson, Sheng-Jia Lin, et al. · Human Genetics and Genomics Advances · 12
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
2021 · Iris B. A. W. te Paske, José Garcia-Pelaez, et al. · European Journal of Human Genetics · 10
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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024 · German Demidov, Burcu Yaldiz, et al. · npj Genomic Medicine · 9
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing
2021 · Rita Barbosa-Matos, Rafaela Leal Silva, et al. · Cancers · 9
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An interconnected data infrastructure to support large-scale rare disease research
2024 · Lennart F Johansson, Steve Laurie, et al. · GigaScience · 8
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Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal Polyposis
2026 · Anna K. Sommer, Iris B.A.W. te Paske, et al. · Gastroenterology · 6
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Gastric Polyps in Familial Adenomatous Polyposis Portuguese Patients: The First Western Cohort with Asian Features
2023 · Diana Baptista, Marco Fernandes, et al. · Pathobiology · 6
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 · Anne-Sophie Denommé-Pichon, Leslie Matalonga, et al. · Genetics in Medicine · 6
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD
2022 · Anna K. Sommer, Iris B.A.W. te Paske, et al. · European Journal of Medical Genetics · 5
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E-cadherin loss in Cd44-positive gastric cells initiates diffuse gastric cancer in a murine model
2026 · Lyvianne Decourtye-Espiard, Emily Schulpen, et al. · Gut · 3
Clinical Applications of Liquid Biopsy in Colorectal Cancer: A Focus on Registered Clinical Trials
2026 · José Garcia-Pelaez, Yania Yáñez, et al. · Genes · 1
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Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants
2026 · Nelson Martins, Mariona Terradas, et al. · JCO Precision Oncology · 1
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
2025 · Steven Laurie, Wouter Steyaert, et al. · Nature Medicine · 1
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Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021 · Leslie Matalonga, Carles Hernández-Ferrer, et al. · European Journal of Human Genetics · 1
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Works count: 43
Citation count: 535
H-index: 12
I10-index: 13
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