A citation-based method for searching scientific literature

Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T den Dunnen, Desiree du Sart, Aurelie Fabre, Michael P Farrell, Susan M Farrington, Ian M Frayling, Thierry Frebourg, David E Goldgar, Christopher D Heinen, Elke Holinski-Feder, Maija Kohonen-Corish, Kristina Lagerstedt Robinson, Suet Yi Leung, Alexandra Martins, Pal Moller, Monika Morak, Minna Nystrom, Paivi Peltomaki, Marta Pineda, Ming Qi, Rajkumar Ramesar, Lene Juel Rasmussen, Brigitte Royer-Pokora, Rodney J Scott, Rolf Sijmons, Sean V Tavtigian, Carli M Tops, Thomas Weber, Juul Wijnen, Michael O Woods, Finlay Macrae, Maurizio Genuardi. Nat Genet 2014
Times Cited: 295







List of co-cited articles
783 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
40

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.
Pål Møller, Toni T Seppälä, Inge Bernstein, Elke Holinski-Feder, Paulo Sala, D Gareth Evans, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf H Sijmons,[...]. Gut 2018
196
24

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Asad Umar, C Richard Boland, Jonathan P Terdiman, Sapna Syngal, Albert de la Chapelle, Josef Rüschoff, Richard Fishel, Noralane M Lindor, Lawrence J Burgart, Richard Hamelin,[...]. J Natl Cancer Inst 2004
20

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Sharon E Plon, Diana M Eccles, Douglas Easton, William D Foulkes, Maurizio Genuardi, Marc S Greenblatt, Frans B L Hogervorst, Nicoline Hoogerbrugge, Amanda B Spurdle, Sean V Tavtigian. Hum Mutat 2008
548
20

Milestones of Lynch syndrome: 1895-2015.
Henry T Lynch, Carrie L Snyder, Trudy G Shaw, Christopher D Heinen, Megan P Hitchins. Nat Rev Cancer 2015
327
18


Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, Sanne W Ten Broeke, John-Paul Plazzer, Sigve Nakken, Christoph Engel, Stefan Aretz, Mark A Jenkins, Lone Sunde,[...]. Genet Med 2020
110
17

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
Pål Møller, Toni Seppälä, Inge Bernstein, Elke Holinski-Feder, Paola Sala, D Gareth Evans, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons,[...]. Gut 2017
231
16

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
15

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
Hans F A Vasen, Ignacio Blanco, Katja Aktan-Collan, Jessica P Gopie, Angel Alonso, Stefan Aretz, Inge Bernstein, Lucio Bertario, John Burn, Gabriel Capella,[...]. Gut 2013
416
14

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.
Aung Ko Win, Mark A Jenkins, James G Dowty, Antonis C Antoniou, Andrew Lee, Graham G Giles, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Dennis J Ahnen,[...]. Cancer Epidemiol Biomarkers Prev 2017
135
14

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
13

Update on Lynch syndrome genomics.
Päivi Peltomäki. Fam Cancer 2016
80
16

Hereditary colorectal cancer.
Henry T Lynch, Albert de la Chapelle. N Engl J Med 2003
12

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Arjen R Mensenkamp, Ingrid P Vogelaar, Wendy A G van Zelst-Stams, Monique Goossens, Hicham Ouchene, Sandra J B Hendriks-Cornelissen, Michael P Kwint, Nicoline Hoogerbrugge, Iris D Nagtegaal, Marjolijn J L Ligtenberg. Gastroenterology 2014
208
12

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, Monique Goossens, Konnie M Hebeda, Marsha Voorendt, Tracy Y H Lee, Danielle Bodmer, Eveline Hoenselaar, Sandra J B Hendriks-Cornelissen,[...]. Nat Genet 2009
469
12

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Sapna Syngal, Randall E Brand, James M Church, Francis M Giardiello, Heather L Hampel, Randall W Burt. Am J Gastroenterol 2015
634
11

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
Heather Hampel, Wendy L Frankel, Edward Martin, Mark Arnold, Karamjit Khanduja, Philip Kuebler, Hidewaki Nakagawa, Kaisa Sotamaa, Thomas W Prior, Judith Westman,[...]. N Engl J Med 2005
905
11

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Leigha Senter, Mark Clendenning, Kaisa Sotamaa, Heather Hampel, Jane Green, John D Potter, Annika Lindblom, Kristina Lagerstedt, Stephen N Thibodeau, Noralane M Lindor,[...]. Gastroenterology 2008
342
11

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
116
11

Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
Heather Hampel, Wendy L Frankel, Edward Martin, Mark Arnold, Karamjit Khanduja, Philip Kuebler, Mark Clendenning, Kaisa Sotamaa, Thomas Prior, Judith A Westman,[...]. J Clin Oncol 2008
532
10

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
Dung T Le, Jennifer N Uram, Hao Wang, Bjarne R Bartlett, Holly Kemberling, Aleksandra D Eyring, Andrew D Skora, Brandon S Luber, Nilofer S Azad, Dan Laheru,[...]. N Engl J Med 2015
10

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.
Francis M Giardiello, John I Allen, Jennifer E Axilbund, C Richard Boland, Carol A Burke, Randall W Burt, James M Church, Jason A Dominitz, David A Johnson, Tonya Kaltenbach,[...]. Am J Gastroenterol 2014
261
10

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Mark Drost, Yvonne Tiersma, Bryony A Thompson, Jane H Frederiksen, Guido Keijzers, Dylan Glubb, Scott Kathe, Jan Osinga, Helga Westers, Lisa Pappas,[...]. Genet Med 2019
17
58

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Ronja Adam, Isabel Spier, Bixiao Zhao, Michael Kloth, Jonathan Marquez, Inga Hinrichsen, Jutta Kirfel, Aylar Tafazzoli, Sukanya Horpaopan, Siegfried Uhlhaas,[...]. Am J Hum Genet 2016
109
10

Accurate classification of BRCA1 variants with saturation genome editing.
Gregory M Findlay, Riza M Daza, Beth Martin, Melissa D Zhang, Anh P Leith, Molly Gasperini, Joseph D Janizek, Xingfan Huang, Lea M Starita, Jay Shendure. Nature 2018
224
10

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer.
Francis M Giardiello, John I Allen, Jennifer E Axilbund, C Richard Boland, Carol A Burke, Randall W Burt, James M Church, Jason A Dominitz, David A Johnson, Tonya Kaltenbach,[...]. Gastroenterology 2014
235
9

Identification of Lynch syndrome among patients with colorectal cancer.
Leticia Moreira, Francesc Balaguer, Noralane Lindor, Albert de la Chapelle, Heather Hampel, Lauri A Aaltonen, John L Hopper, Loic Le Marchand, Steven Gallinger, Polly A Newcomb,[...]. JAMA 2012
293
9

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Mark Drost, José B M Zonneveld, Sandrine van Hees, Lene Juel Rasmussen, Robert M W Hofstra, Niels de Wind. Hum Mutat 2012
34
26

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Bryony A Thompson, David E Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T Parsons, Walsh Michael D, Steven Gallinger, Robert W Haile,[...]. Hum Mutat 2013
63
14

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Masanobu Takahashi, Hideki Shimodaira, Corinne Andreutti-Zaugg, Richard Iggo, Richard D Kolodner, Chikashi Ishioka. Cancer Res 2007
105
8

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Katharina Wimmer, Christian P Kratz, Hans F A Vasen, Olivier Caron, Chrystelle Colas, Natacha Entz-Werle, Anne-Marie Gerdes, Yael Goldberg, Denisa Ilencikova, Martine Muleris,[...]. J Med Genet 2014
215
8

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Valérie Bonadona, Bernard Bonaïti, Sylviane Olschwang, Sophie Grandjouan, Laetitia Huiart, Michel Longy, Rosine Guimbaud, Bruno Buecher, Yves-Jean Bignon, Olivier Caron,[...]. JAMA 2011
577
8

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Marlies J E Kempers, Roland P Kuiper, Charlotte W Ockeloen, Pierre O Chappuis, Pierre Hutter, Nils Rahner, Hans K Schackert, Verena Steinke, Elke Holinski-Feder, Monika Morak,[...]. Lancet Oncol 2011
165
8

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Matthew B Yurgelun, Brian Allen, Rajesh R Kaldate, Karla R Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B Roa, Richard J Wenstrup, Anne-Renee Hartman, Sapna Syngal. Gastroenterology 2015
143
8

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Pål Møller, Toni Seppälä, Inge Bernstein, Elke Holinski-Feder, Paola Sala, D Gareth Evans, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons,[...]. Gut 2017
68
11

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
Sigurdis Haraldsdottir, Heather Hampel, Jerneja Tomsic, Wendy L Frankel, Rachel Pearlman, Albert de la Chapelle, Colin C Pritchard. Gastroenterology 2014
227
8

A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
7


Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Sofie Dabros Andersen, Sascha Emilie Liberti, Anne Lützen, Mark Drost, Inge Bernstein, Mef Nilbert, Mev Dominguez, Minna Nyström, Thomas Van Overeem Hansen, Janus Wiese Christoffersen,[...]. Hum Mutat 2012
15
46

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Sahra Bodo, Chrystelle Colas, Olivier Buhard, Ada Collura, Julie Tinat, Noémie Lavoine, Agathe Guilloux, Alexandra Chalastanis, Philippe Lafitte, Florence Coulet,[...]. Gastroenterology 2015
57
12

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Tiina E Raevaara, Mari K Korhonen, Hannes Lohi, Heather Hampel, Elly Lynch, Karin E Lönnqvist, Elke Holinski-Feder, Christian Sutter, Wendy McKinnon, Sekhar Duraisamy,[...]. Gastroenterology 2005
146
7

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Bryony A Thompson, Marc S Greenblatt, Maxime P Vallee, Johanna C Herkert, Chloe Tessereau, Erin L Young, Ivan A Adzhubey, Biao Li, Russell Bell, Bingjian Feng,[...]. Hum Mutat 2013
59
11

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Lisa R Susswein, Megan L Marshall, Rachel Nusbaum, Kristen J Vogel Postula, Scott M Weissman, Lauren Yackowski, Erica M Vaccari, Jeffrey Bissonnette, Jessica K Booker, M Laura Cremona,[...]. Genet Med 2016
152
7

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.
H J Järvinen, M Aarnio, H Mustonen, K Aktan-Collan, L A Aaltonen, P Peltomäki, A De La Chapelle, J P Mecklin. Gastroenterology 2000
920
7

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Claire Palles, Jean-Baptiste Cazier, Kimberley M Howarth, Enric Domingo, Angela M Jones, Peter Broderick, Zoe Kemp, Sarah L Spain, Estrella Guarino, Israel Salguero,[...]. Nat Genet 2013
568
7



Cancer Risks for PMS2-Associated Lynch Syndrome.
Sanne W Ten Broeke, Heleen M van der Klift, Carli M J Tops, Stefan Aretz, Inge Bernstein, Daniel D Buchanan, Albert de la Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel,[...]. J Clin Oncol 2018
76
9

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
Rachel Pearlman, Wendy L Frankel, Benjamin Swanson, Weiqiang Zhao, Ahmet Yilmaz, Kristin Miller, Jason Bacher, Christopher Bigley, Lori Nelsen, Paul J Goodfellow,[...]. JAMA Oncol 2017
260
7


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.