A citation-based method for searching scientific literature

Mark Drost, Yvonne Tiersma, Bryony A Thompson, Jane H Frederiksen, Guido Keijzers, Dylan Glubb, Scott Kathe, Jan Osinga, Helga Westers, Lisa Pappas, Kenneth M Boucher, Siska Molenkamp, José B Zonneveld, Christi J van Asperen, David E Goldgar, Susan S Wallace, Rolf H Sijmons, Amanda B Spurdle, Lene J Rasmussen, Marc S Greenblatt, Niels de Wind, Sean V Tavtigian. Genet Med 2019
Times Cited: 18







List of co-cited articles
174 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
66

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
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,[...]. Nat Genet 2014
311
55

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
36
44

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
376
44

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
273
38

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
156
33

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
576
27

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
62
27

A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Mark Drost, Jos e B M Zonneveld, Linda van Dijk, Hans Morreau, Carli M Tops, Hans F A Vasen, Juul T Wijnen, Niels de Wind. Hum Mutat 2010
46
27


Update on Lynch syndrome genomics.
Päivi Peltomäki. Fam Cancer 2016
86
27

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
142
27

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.
Lene Juel Rasmussen, Christopher D Heinen, Brigitte Royer-Pokora, Mark Drost, Sean Tavtigian, Robert M W Hofstra, Niels de Wind. Hum Mutat 2012
50
22

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
232
22

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
65
22


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
165
22

Structure of the human MutSalpha DNA lesion recognition complex.
Joshua J Warren, Timothy J Pohlhaus, Anita Changela, Ravi R Iyer, Paul L Modrich, Lorena S Beese. Mol Cell 2007
250
22

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
157
22

Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Abhijit Rath, Akriti Mishra, Victoria Duque Ferreira, Chaoran Hu, Gregory Omerza, Kevin Kelly, Andrew Hesse, Honey V Reddi, James P Grady, Christopher D Heinen. Hum Mutat 2019
11
36

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Mark Drost, Yvonne Tiersma, Dylan Glubb, Scott Kathe, Sandrine van Hees, Fabienne Calléja, José B M Zonneveld, Kenneth M Boucher, Renuka P E Ramlal, Bryony A Thompson,[...]. Genet Med 2020
7
57

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
Matthew B Yurgelun, Matthew H Kulke, Charles S Fuchs, Brian A Allen, Hajime Uno, Jason L Hornick, Chinedu I Ukaegbu, Lauren K Brais, Philip G McNamara, Robert J Mayer,[...]. J Clin Oncol 2017
204
16

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
616
16

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
350
16

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
563
16

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
86
16

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
Sanne W ten Broeke, Richard M Brohet, Carli M Tops, Heleen M van der Klift, Mary E Velthuizen, Inge Bernstein, Gabriel Capellá Munar, Encarna Gomez Garcia, Nicoline Hoogerbrugge, Tom G W Letteboer,[...]. J Clin Oncol 2015
126
16

Postreplicative mismatch repair.
Josef Jiricny. Cold Spring Harb Perspect Biol 2013
195
16

Eukaryotic Mismatch Repair in Relation to DNA Replication.
Thomas A Kunkel, Dorothy A Erie. Annu Rev Genet 2015
205
16

Predicting functional effect of human missense mutations using PolyPhen-2.
Ivan Adzhubei, Daniel M Jordan, Shamil R Sunyaev. Curr Protoc Hum Genet 2013
16

SIFT: Predicting amino acid changes that affect protein function.
Pauline C Ng, Steven Henikoff. Nucleic Acids Res 2003
16

Variant Interpretation: Functional Assays to the Rescue.
Lea M Starita, Nadav Ahituv, Maitreya J Dunham, Jacob O Kitzman, Frederick P Roth, Georg Seelig, Jay Shendure, Douglas M Fowler. Am J Hum Genet 2017
135
16


Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
Hellen Houlleberghs, Marleen Dekker, Hildo Lantermans, Roos Kleinendorst, Hendrikus Jan Dubbink, Robert M W Hofstra, Senno Verhoef, Hein Te Riele. Proc Natl Acad Sci U S A 2016
20
16

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
Alison E Gammie, Naz Erdeniz, Julia Beaver, Barbara Devlin, Afshan Nanji, Mark D Rose. Genetics 2007
71
16

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
236
16

Multiplex assessment of protein variant abundance by massively parallel sequencing.
Kenneth A Matreyek, Lea M Starita, Jason J Stephany, Beth Martin, Melissa A Chiasson, Vanessa E Gray, Martin Kircher, Arineh Khechaduri, Jennifer N Dines, Ronald J Hause,[...]. Nat Genet 2018
129
16

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra,[...]. PLoS Genet 2017
13
23

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.
Mark Drost, Anne Lützen, Sandrine van Hees, Daniel Ferreira, Fabienne Calléja, José B M Zonneveld, Finn Cilius Nielsen, Lene Juel Rasmussen, Niels de Wind. Proc Natl Acad Sci U S A 2013
13
23


Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, Garry R Cutting, Marc S Greenblatt, Christopher D Heinen, Dona M Kanavy, Xi Luo, Shannon M McNulty, Lea M Starita,[...]. Genome Med 2019
113
16


Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L Frankel, Sylvia Einarsdottir, Asgeir Sigurdsson, Heather Hampel, Petur Snaebjornsson, Gisli Masson, Daniel Weng, Reynir Arngrimsson,[...]. Nat Commun 2017
56
11

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate.
M L Bisgaard, K Fenger, S Bülow, E Niebuhr, J Mohr. Hum Mutat 1994
285
11

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Heather Hampel, Rachel Pearlman, Mallory Beightol, Weiqiang Zhao, Daniel Jones, Wendy L Frankel, Paul J Goodfellow, Ahmet Yilmaz, Kristin Miller, Jason Bacher,[...]. JAMA Oncol 2018
87
11

Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.
Manish K Gala, Yusuke Mizukami, Long P Le, Kentaro Moriichi, Thomas Austin, Masayoshi Yamamoto, Gregory Y Lauwers, Nabeel Bardeesy, Daniel C Chung. Gastroenterology 2014
81
11


Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.
Sebastià Franch-Expósito, Clara Esteban-Jurado, Pilar Garre, Isabel Quintanilla, Saray Duran-Sanchon, Marcos Díaz-Gay, Laia Bonjoch, Miriam Cuatrecasas, Esther Samper, Jenifer Muñoz,[...]. J Genet Genomics 2018
11
18

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
Taina T Nieminen, Marie-Françoise O'Donohue, Yunpeng Wu, Hannes Lohi, Stephen W Scherer, Andrew D Paterson, Pekka Ellonen, Wael M Abdel-Rahman, Satu Valo, Jukka-Pekka Mecklin,[...]. Gastroenterology 2014
106
11

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
123
11


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.