| 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 | 540 | 2020 |
| Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ... Nature genetics 44 (4), 379-380, 2012 | 404 | 2012 |
| Expanded extracolonic tumor spectrum in MUTYH-associated polyposis S Vogt, N Jones, D Christian, C Engel, M Nielsen, A Kaufmann, V Steinke, ... Gastroenterology 137 (6), 1976-1985. e10, 2009 | 398 | 2009 |
| 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 | 228 | 2015 |
| MUTYH-associated polyposis (MAP) M Nielsen, H Morreau, HFA Vasen, FJ Hes Critical reviews in oncology/hematology 79 (1), 1-16, 2011 | 226 | 2011 |
| Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) M Nielsen, PF Franken, T Reinards, MM Weiss, A Wagner, H Van der Klift, ... Journal of medical genetics 42 (9), e54-e54, 2005 | 226 | 2005 |
| Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide S Walpole, AL Pritchard, CM Cebulla, R Pilarski, M Stautberg, ... JNCI: Journal of the National Cancer Institute 110 (12), 1328-1341, 2018 | 225 | 2018 |
| Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis M Nielsen, FJ Hes, FM Nagengast, MM Weiss, EM Mathus‐Vliegen, ... Clinical genetics 71 (5), 427-433, 2007 | 217 | 2007 |
| Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis M Nielsen, MC Joerink-Van de Beld, N Jones, S Vogt, CM Tops, ... Gastroenterology 136 (2), 471-476, 2009 | 206 | 2009 |
| 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 | 196 | 2018 |
| Somatic APC mosaicism: an underestimated cause of polyposis coli FJ Hes, M Nielsen, EC Bik, D Konvalinka, JT Wijnen, E Bakker, ... Gut 57 (1), 71-76, 2008 | 184 | 2008 |
| Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B C Halgren, S Kjaergaard, M Bak, C Hansen, Z El‐Schich, CM Anderson, ... Clinical genetics 82 (3), 248-255, 2012 | 170 | 2012 |
| 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 | 168 | 2019 |
| Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH N Jones, S Vogt, M Nielsen, D Christian, PA Wark, D Eccles, E Edwards, ... Gastroenterology 137 (2), 489-494. e1, 2009 | 155 | 2009 |
| Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer FA Elsayed, CM Kets, D Ruano, B Van Den Akker, AR Mensenkamp, ... European Journal of Human Genetics 23 (8), 1080-1084, 2015 | 132 | 2015 |
| 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 | 110 | 2020 |
| Leiden open variation database of the MUTYH gene AA Out, CMJ Tops, M Nielsen, MM Weiss, IJHM Van Minderhout, ... Human mutation 31 (11), 1205-1215, 2010 | 96 | 2010 |
| Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome SM Maas, AC Shaw, H Bikker, HJ Lüdecke, K van der Tuin, ... European journal of medical genetics 58 (5), 279-292, 2015 | 86 | 2015 |
| Evidence for accelerated colorectal adenoma–carcinoma progression in MUTYH-associated polyposis? MH Nieuwenhuis, S Vogt, N Jones, M Nielsen, FJ Hes, JR Sampson, ... Gut 61 (5), 734-738, 2012 | 77 | 2012 |
| 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 | 76 | 2021 |
Tom van WezelAssociate professor, Department of Pathology, Leiden University Medical Center, Netherlands在 lumc.nl 的电子邮件经过验证
