| 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 | 577 | 2020 |
| Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk SW Ten Broeke, RM Brohet, CM Tops, HM van der Klift, ME Velthuizen, ... Journal of Clinical Oncology 33 (4), 319-325, 2015 | 230 | 2015 |
| Cancer Risks for PMS2-Associated Lynch Syndrome SW Ten Broeke, HM van der Klift, CMJ Tops, S Aretz, I Bernstein, ... Journal of Clinical Oncology 36 (29), 2961-2968, 2018 | 207 | 2018 |
| Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype JE Grolleman, RM De Voer, FA Elsayed, M Nielsen, RDA Weren, C Palles, ... Cancer cell 35 (2), 256-266. e5, 2019 | 175 | 2019 |
| The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution A Ballhausen, MJ Przybilla, M Jendrusch, S Haupt, E Pfaffendorf, ... Nature communications 11 (1), 4740, 2020 | 111 | 2020 |
| 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 | 83 | 2021 |
| The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance A Ahadova, TT Seppälä, C Engel, R Gallon, J Burn, E Holinski‐Feder, ... International journal of cancer 148 (4), 800-811, 2021 | 70 | 2021 |
| Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome HM van der Klift, AR Mensenkamp, M Drost, EC Bik, YJ Vos, HJJP Gille, ... Human mutation 37 (11), 1162-1179, 2016 | 67 | 2016 |
| 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 | 61 | 2019 |
| Molecular background of colorectal tumors from patients with Lynch syndrome associated with germline variants in PMS2 SW Ten Broeke, TC van Bavel, AML Jansen, E Gómez-García, FJ Hes, ... Gastroenterology 155 (3), 844-851, 2018 | 54 | 2018 |
| 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 | 38 | 2021 |
| 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 | 38 | 2019 |
| 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 | 35 | 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 | 33 | 2023 |
| A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects IHM Van der Linde, YL Hiemstra, R Bökenkamp, AM van Mil, ... Netherlands Heart Journal 25, 675-681, 2017 | 28 | 2017 |
| An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome M Suerink, M Rodríguez-Girondo, HM van der Klift, C Colas, L Brugieres, ... Genetics in Medicine 21 (12), 2706-2712, 2019 | 27 | 2019 |
| Constitutional mismatch repair deficiency in a healthy child: on the spot diagnosis? M Suerink, TP Potjer, AB Versluijs, SW Ten Broeke, CM Tops, K Wimmer, ... Clinical genetics 93 (1), 134-137, 2018 | 26 | 2018 |
| Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders JR Stolz, KM Foote, HE Veenstra-Knol, R Pfundt, SW Ten Broeke, ... The American Journal of Human Genetics 108 (9), 1692-1709, 2021 | 25 | 2021 |
| The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations NC Helderman, SW Bajwa-ten Broeke, H Morreau, M Suerink, D Terlouw, ... Critical Reviews in Oncology/Hematology 163, 103338, 2021 | 25 | 2021 |
| The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers M Suerink, HM Van Der Klift, SW Ten Broeke, OM Dekkers, I Bernstein, ... Genetics in Medicine 18 (4), 405-409, 2016 | 24 | 2016 |
