| Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database P Møller, TT Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ... Gut 67 (7), 1306-1316, 2018 | 560 | 2018 |
| Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ... Gut 66 (3), 464-472, 2017 | 557 | 2017 |
| Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database M Dominguez-Valentin, JR Sampson, TT Seppälä, SW Ten Broeke, ... Genetics in Medicine 22 (1), 15-25, 2020 | 528 | 2020 |
| Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt, K Akagi, ... Nature genetics 46 (2), 107-115, 2014 | 499 | 2014 |
| Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ... Gut 66 (9), 1657-1664, 2017 | 153 | 2017 |
| The InSiGHT database: utilizing 100 years of insights into Lynch syndrome JP Plazzer, RH Sijmons, MO Woods, P Peltomäki, B Thompson, ... Familial cancer 12, 175-180, 2013 | 152 | 2013 |
| An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review J Daniell, JP Plazzer, A Perera, F Macrae Familial cancer 17, 421-427, 2018 | 84 | 2018 |
| Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study AK Win, JG Dowty, JC Reece, G Lee, AS Templeton, JP Plazzer, ... The Lancet Oncology 22 (7), 1014-1022, 2021 | 74 | 2021 |
| Annotating the biomedical literature for the human variome K Verspoor, A Jimeno Yepes, L Cavedon, T McIntosh, A Herten-Crabb, ... Database 2013, bat019, 2013 | 74 | 2013 |
| Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report T Seppälä, K Pylvänäinen, DG Evans, H Järvinen, L Renkonen-Sinisalo, ... Hereditary cancer in clinical practice 15, 1-10, 2017 | 72 | 2017 |
| Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report TT Seppälä, A Ahadova, M Dominguez-Valentin, F Macrae, DG Evans, ... Hereditary cancer in clinical practice 17, 1-8, 2019 | 59 | 2019 |
| Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization KJ Van Der Velde, J Kuiper, BA Thompson, JP Plazzer, G van Valkenhoef, ... Human mutation 36 (7), 712-719, 2015 | 50 | 2015 |
| Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report M Dominguez-Valentin, TT Seppälä, JR Sampson, F Macrae, I Winship, ... Hereditary cancer in clinical practice 17, 1-6, 2019 | 37 | 2019 |
| Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report M Dominguez-Valentin, EJ Crosbie, C Engel, S Aretz, F Macrae, I Winship, ... Genetics in Medicine 23 (4), 705-712, 2021 | 36 | 2021 |
| Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium P Møller, T Seppälä, JG Dowty, S Haupt, M Dominguez-Valentin, L Sunde, ... Hereditary cancer in clinical practice 20 (1), 36, 2022 | 30 | 2022 |
| Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the … M Dominguez-Valentin, S Haupt, TT Seppälä, JR Sampson, L Sunde, ... EClinicalMedicine 58, 2023 | 27 | 2023 |
| From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America CA Vaccaro, F López‐Kostner, DV Adriana, EI Palmero, BM Rossi, ... International journal of cancer 145 (2), 318-326, 2019 | 27 | 2019 |
| Contribution of mRNA splicing to mismatch repair gene sequence variant interpretation BA Thompson, R Walters, MT Parsons, T Dumenil, M Drost, Y Tiersma, ... Frontiers in Genetics 11, 798, 2020 | 24 | 2020 |
| A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries A Della Valle, BM Rossi, EI Palmero, M Antelo, CA Vaccaro, ... European Journal of Cancer 119, 112-121, 2019 | 21 | 2019 |
| Risk-reducing gynecological surgery in lynch syndrome: results of an international survey from the prospective lynch syndrome database M Dominguez-Valentin, TT Seppälä, C Engel, S Aretz, F Macrae, ... Journal of clinical medicine 9 (7), 2290, 2020 | 18 | 2020 |
