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Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.American Journal of Medical Genetics. Part A|March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsKatherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.Gut|December 15, 2015
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome databasePål Møller, Toni Seppälä, Inge Bernstein, et al.BMJ Open|June 23, 2020
Pathways to a cancer-free future: a protocol for modelled evaluations to minimise the future burden of colorectal cancer in AustraliaEleonora Feletto, Jie-Bin Lew, Joachim Worthington, et al.Gut|June 5, 2016
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome databasePål Møller, Toni Seppälä, Inge Bernstein, et al.International Journal of Cancer|December 7, 2018
Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular featuresWu Jiang, Mu-Yan Cai, Shi-Yong Li, et al.Gut|February 15, 2013
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European expertsHans F A Vasen, Ignacio Blanco, Katja Aktan-Collan, et al.Hereditary Cancer in Clinical Practice|October 20, 2017
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database reportToni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, et al.Gut|July 30, 2017
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 DatabasePål Møller, Toni T Seppälä, Inge Bernstein, et al.Nature Genetics|December 24, 2013
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific databaseBryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, et al.Pageof 5