Xenética de Tumores Gastrointestinales
Hospital Universitari de Bellvitge
l'Hospitalet de Llobregat, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitari de Bellvitge (9)
2024
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2023
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
2022
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First international workshop of the ATM and cancer risk group (4-5 December 2019)
Familial Cancer, Vol. 21, Núm. 2, pp. 211-227
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Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome
Clinical Gastroenterology and Hepatology, Vol. 20, Núm. 3, pp. 611-621.e9
2021
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A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
Clinical chemistry, Vol. 67, Núm. 3, pp. 518-533
2019
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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Cancer Cell, Vol. 35, Núm. 2, pp. 256-266.e5
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Update on genetic predisposition to colorectal cancer and polyposis
Molecular Aspects of Medicine, Vol. 69, pp. 10-26
2012
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Susceptibility genetic variants associated with early-onset colorectal cancer
Carcinogenesis, Vol. 33, Núm. 3, pp. 613-619