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American Journal of Medical Genetics. Part A|March 25, 2026
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis PredispositionNoah C Helderman, Carli M Tops, Jelmer Legebeke, et al.
Clinical and Translational Gastroenterology|October 31, 2019
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome SequencingClaudio Toma, Marcos Díaz-Gay, Yasmin Soares de Lima, et al.
Cancers|March 6, 2021
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis SyndromeYasmin Soares de Lima, Coral Arnau-Collell, Marcos Díaz-Gay, et al.
JCI Insight|August 26, 2020
Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndromeMariano Golubicki, Laia Bonjoch, José G Acuña-Ochoa, et al.
Gastroenterology|March 18, 2020
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal CancerLaia Bonjoch, Sebastià Franch-Expósito, Pilar Garre, et al.
Journal of Medical Genetics|March 15, 2020
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibilityCoral Arnau-Collell, Yasmin Soares de Lima, Marcos Díaz-Gay, et al.
Oncotarget|April 21, 2017
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancerClara Esteban-Jurado, David Giménez-Zaragoza, Jenifer Muñoz, et al.
Cancers|March 16, 2019
Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal CancerMarcos Díaz-Gay, Sebastià Franch-Expósito, Coral Arnau-Collell, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
Examining the Role of Extrachromosomal DNA in 1,216 Lung CancersAzhar Khandekar, Phuc H Hoang, Jens Luebeck, et al.
International Journal of Cancer|May 30, 2025
Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndromeXavier Domínguez-Rovira, Coral Arnau-Collell, Gemma Gonfaus-Ortiz, et al.
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