Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
2013 · Nature Genetics · 471 citations
https://doi.org/10.1038/ng.2854
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Carli M.J. Tops
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Carli M.J. Tops is an academic researcher from Loyola University Medical Center. The author has contributed to research in topics: Genetic factors in colorectal cancer & Cancer Genomics and Diagnostics & Colorectal Cancer Screening and Detection. The author has an h-index of 49, co-authored 136 publications.
ORCID: 0000-0002-6769-7290Papers by this author
worksConsensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
2016 · Nature Reviews Endocrinology · 264 citations
https://doi.org/10.1038/nrendo.2016.185
Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome
2018 · Journal of Clinical Oncology · 207 citations
https://doi.org/10.1200/jco.2018.78.4777
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
2015 · European Journal of Human Genetics · 125 citations
https://doi.org/10.1038/ejhg.2015.252
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
2017 · The Journal of Clinical Endocrinology & Metabolism · 78 citations
https://doi.org/10.1210/jc.2017-01762
Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
2010 · BMC Cancer · 53 citations
https://doi.org/10.1186/1471-2407-10-180
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