Publications by authors named "Marcos Díaz-Gay"

12Publications

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.

JCI Insight 2020 Sep 17;5(18). Epub 2020 Sep 17.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.

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September 2020

Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.

Gastroenterology 2020 Jul 14;159(1):227-240.e7. Epub 2020 Mar 14.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address:

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July 2020

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.

J Med Genet 2020 Oct 13;57(10):677-682. Epub 2020 Mar 13.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clínic, Barcelona, Spain

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October 2020

CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications.

Elife 2020 Jan 15;9. Epub 2020 Jan 15.

Gastrointestinal and Pancreatic Oncology Team, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Universitat de Barcelona, Barcelona, Spain.

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January 2020

Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.

Int J Cancer 2020 03 6;146(6):1568-1577. Epub 2019 Nov 6.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, University of Barcelona, Barcelona, Spain.

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March 2020

Somatic mutational signatures in polyposis and colorectal cancer.

Mol Aspects Med 2019 10 23;69:62-72. Epub 2019 May 23.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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October 2019

Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.

Int J Cancer 2019 02 3;144(3):513-524. Epub 2018 Dec 3.

Gastrointestinal and Pancreatic Oncology Group, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Barcelona, Catalonia, Spain.

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February 2019

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples.

BMC Bioinformatics 2018 06 14;19(1):224. Epub 2018 Jun 14.

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD, University of Barcelona, Barcelona, Spain.

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June 2018

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Oncotarget 2017 Apr;8(16):26732-26743

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Catalonia, Spain.

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April 2017