Germline mutations in FAF1 are associated with hereditary colorectal cancer L Bonjoch, S Franch-Expósito, P Garre, S Belhadj, J Muñoz, ... Gastroenterology 159 (1), 227-240. e7, 2020 | 21 | 2020 |
Germline and somatic whole-exome sequencing identifies new candidate genes involved in familial predisposition to serrated polyposis syndrome Y Soares de Lima, C Arnau-Collell, M Díaz-Gay, L Bonjoch, ... Cancers 13 (4), 929, 2021 | 15 | 2021 |
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility C Arnau-Collell, YS de Lima, M Díaz-Gay, J Muñoz, S Carballal, ... Journal of Medical Genetics 57 (10), 677-682, 2020 | 15 | 2020 |
Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer C Toma, M Díaz‐Gay, S Franch‐Expósito, C Arnau‐Collell, B Overs, ... International Journal of Cancer 146 (6), 1568-1577, 2020 | 11 | 2020 |
Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing YS de Lima, M Chiabai, J Shen, MS Córdoba, BR Versiani, ROA Benício, ... Hearing Research 370, 181-188, 2018 | 9 | 2018 |
Identification of a novel candidate gene for serrated polyposis syndrome germline predisposition by performing linkage analysis combined with whole-exome sequencing C Toma, M Diaz-Gay, YS de Lima, C Arnau-Collell, S Franch-Exposito, ... Clinical and translational gastroenterology 10 (10), e00100, 2019 | 8 | 2019 |
The effects of Paracoccidioides brasiliensis infection on GM-CSF-and M-CSF-induced mouse bone marrow-derived macrophage from resistant and susceptible mice strains C de Souza Silva, AH Tavares, M Sousa Jeronimo, Y Soares de Lima, ... Mediators of Inflammation 2015, 2015 | 8 | 2015 |
Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome L Bonjoch, Y Soares de Lima, M Díaz-Gay, I Dotti, J Muñoz, L Moreira, ... Frontiers in Molecular Biosciences 10, 1119900, 2023 | 4 | 2023 |
Germline mutations in WNK2 could be associated with serrated polyposis syndrome YS de Lima, C Arnau-Collell, J Muñoz, C Herrera-Pariente, L Moreira, ... Journal of Medical Genetics 60 (6), 557-567, 2023 | 3 | 2023 |
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome. Cancers 2021, 13, 929 Y Soares de Lima, C Arnau-Collell, M Díaz-Gay, L Bonjoch, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021 | 1 | 2021 |
CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell adhesion C Herrera-Pariente, L Bonjoch, J Munoz, G Fernandez, Y Soares de Lima, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 563-563, 2024 | | 2024 |
Germline mutations in WNK2 are associated with serrated polyposis syndrome Y Soares de Lima, C Arnau, J Munoz, C Herrera-Pariente, L Moreira, ... European Journal of Human Genetics 31, 530-531, 2023 | | 2023 |
Identification of new genes involved in germline predisposition to early-onset gastric cancer C Herrera-Pariente, R Capo-Garcia, M Diaz-Gay, S Carballal, J Munoz, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 396-397, 2022 | | 2022 |
Germline predisposition to serrated polyposis syndrome: Candidate genes and functional validation YS de Lima Universitat de Barcelona, 2022 | | 2022 |
POLE, POLD1 and RNF43 screening in serrated polyposis syndrome Y Soares de Lima, C Arnau-Collell, M Diaz-Gay, J Munoz, S Carballal, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 551-552, 2020 | | 2020 |
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer L Bonjoch Gassol, S Franch Expósito, P Garre, S Belhadj, J Muņoz, ... Gastroenterology, 2020, vol. 159, num. 1, p. 227-240, 2020 | | 2020 |
Painel de exoma direcionado como diagnóstico molecular para pacientes com deficiência auditiva sindrômica YS Lima | | 2017 |