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
Times Cited: 18
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
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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
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
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
Mark Drost, José B M Zonneveld, Sandrine van Hees, Lene Juel Rasmussen, Robert M W Hofstra, Niels de Wind. Hum Mutat 2012
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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
Henry T Lynch, Carrie L Snyder, Trudy G Shaw, Christopher D Heinen, Megan P Hitchins. Nat Rev Cancer 2015
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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
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
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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
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
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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
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
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
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
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
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
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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.
Christopher D Heinen, Lene Juel Rasmussen. Hered Cancer Clin Pract 2012
Christopher D Heinen, Lene Juel Rasmussen. Hered Cancer Clin Pract 2012
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
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
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
Lene Juel Rasmussen, Christopher D Heinen, Brigitte Royer-Pokora, Mark Drost, Sean Tavtigian, Robert M W Hofstra, Niels de Wind. Hum Mutat 2012
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
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
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
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22
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Mark Drost, Hester Koppejan, Niels de Wind. Hum Mutat 2013
Mark Drost, Hester Koppejan, Niels de Wind. Hum Mutat 2013
22
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.
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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
Joshua J Warren, Timothy J Pohlhaus, Anita Changela, Ravi R Iyer, Paul L Modrich, Lorena S Beese. Mol Cell 2007
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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
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
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Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
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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
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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
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
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Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
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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
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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
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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
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Eukaryotic Mismatch Repair in Relation to DNA Replication.
Thomas A Kunkel, Dorothy A Erie. Annu Rev Genet 2015
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Predicting functional effect of human missense mutations using PolyPhen-2.
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SIFT: Predicting amino acid changes that affect protein function.
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Variant Interpretation: Functional Assays to the Rescue.
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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
Sarah E Brnich, Edgar A Rivera-Muñoz, Jonathan S Berg. Hum Mutat 2018
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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
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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
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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
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Multiplex assessment of protein variant abundance by massively parallel sequencing.
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16
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
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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
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MUSCLE: multiple sequence alignment with high accuracy and high throughput.
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
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DNA mismatch repair (MMR) mediates 6-thioguanine genotoxicity by introducing single-strand breaks to signal a G2-M arrest in MMR-proficient RKO cells.
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11
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Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
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11
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18
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
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11
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
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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.