CR
Clara Ruiz-Ponte
Fundación Pública Galega de Medicina Xenómica
Research areas: Medicine · Pathology and Forensic Medicine · Genetic factors in colorectal cancer · Genetic Associations and Epidemiology · Colorectal Cancer Screening and Detection
0000-0002-2200-0162
Employment
- 2005 - Present
Education
Education history is unavailable.
Projects & Funding
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Poliposis adenomatosa familiar de origen no filiado: Identificación de nuevos genes de predisposición al cáncer colorrectal mediante secuenciación de exomas Institute of Health Carlos III2015 - 2017
Publications (15)
- Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer. Save
- Novel approaches for the discovery of pharmacogenetic biomarkers of chemotoxicity in patients with colorectal cancer Save
- DICER1-Related Pediatric Thyroid Neoplasm with Follicular and Morular Growth: A Tumor that Did Not Read the Textbook. Save
- Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome. Save
- ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management. Save
- Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort. Save
- SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population. Save
- BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis Save
- Germline mutations inWNK2could be associated with serrated polyposis syndrome Save
- Uso de paneles de genes en pacientes con alto riesgo de cáncer digestivo hereditario: documento de posicionamiento de la AEG, SEOM, AEGH y consorcio IMPaCT-GENÓMICA Save
- Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors) Save
- Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. Save
- First international workshop of the ATM and cancer risk group (4-5 December 2019) Save
- Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer Save
- Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula Save