Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Stefan Aretz, Karin Dahan, William Foulkes, Christian P Kratz, Tim Ripperger, Amedeo A Azizi, Hagit Baris Feldman, Anne-Laure Chong, Ugur Demirsoy, Benoît Florkin, Thomas Imschweiler, Danuta Januszkiewicz-Lewandowska, Stephan Lobitz, Michaela Nathrath, Hans-Jürgen Pander, Vanesa Perez-Alonso, Claudia Perne, Iman Ragab, Thorsten Rosenbaum, Daniel Rueda, Markus G Seidel, Manon Suerink, Julia Taeubner, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M Borthwick, John Burn, Michael S Jackson, Mauro Santibanez-Koref, Katharina Wimmer. Hum Mutat 2019
Times Cited: 16
Times Cited: 16
Times Cited
Times Co-cited
Similarity
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
Sahra Bodo, Chrystelle Colas, Olivier Buhard, Ada Collura, Julie Tinat, Noémie Lavoine, Agathe Guilloux, Alexandra Chalastanis, Philippe Lafitte, Florence Coulet,[...]. Gastroenterology 2015
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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
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Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).
H F A Vasen, Z Ghorbanoghli, F Bourdeaut, O Cabaret, O Caron, A Duval, N Entz-Werle, Y Goldberg, D Ilencikova, C P Kratz,[...]. J Med Genet 2014
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Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
Danielle Ingham, Christine P Diggle, Ian Berry, Claire A Bristow, Bruce E Hayward, Nazneen Rahman, Alexander F Markham, Eamonn G Sheridan, David T Bonthron, Ian M Carr. Hum Mutat 2013
Danielle Ingham, Christine P Diggle, Ian Berry, Claire A Bristow, Bruce E Hayward, Nazneen Rahman, Alexander F Markham, Eamonn G Sheridan, David T Bonthron, Ian M Carr. Hum Mutat 2013
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Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Adam Shlien, Brittany B Campbell, Richard de Borja, Ludmil B Alexandrov, Daniele Merico, David Wedge, Peter Van Loo, Patrick S Tarpey, Paul Coupland, Sam Behjati,[...]. Nat Genet 2015
Adam Shlien, Brittany B Campbell, Richard de Borja, Ludmil B Alexandrov, Daniele Merico, David Wedge, Peter Van Loo, Patrick S Tarpey, Paul Coupland, Sam Behjati,[...]. Nat Genet 2015
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Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
Andrew Y Shuen, Stella Lanni, Gagan B Panigrahi, Melissa Edwards, Lisa Yu, Brittany B Campbell, Ariane Mandel, Cindy Zhang, Nataliya Zhukova, Musa Alharbi,[...]. J Clin Oncol 2019
Andrew Y Shuen, Stella Lanni, Gagan B Panigrahi, Melissa Edwards, Lisa Yu, Brittany B Campbell, Ariane Mandel, Cindy Zhang, Nataliya Zhukova, Musa Alharbi,[...]. J Clin Oncol 2019
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Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.
Eric Bouffet, Valérie Larouche, Brittany B Campbell, Daniele Merico, Richard de Borja, Melyssa Aronson, Carol Durno, Joerg Krueger, Vanja Cabric, Vijay Ramaswamy,[...]. J Clin Oncol 2016
Eric Bouffet, Valérie Larouche, Brittany B Campbell, Daniele Merico, Richard de Borja, Melyssa Aronson, Carol Durno, Joerg Krueger, Vanja Cabric, Vijay Ramaswamy,[...]. J Clin Oncol 2016
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Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.
Uri Tabori, Jordan R Hansford, Maria Isabel Achatz, Christian P Kratz, Sharon E Plon, Thierry Frebourg, Laurence Brugières. Clin Cancer Res 2017
Uri Tabori, Jordan R Hansford, Maria Isabel Achatz, Christian P Kratz, Sharon E Plon, Thierry Frebourg, Laurence Brugières. Clin Cancer Res 2017
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Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris,[...]. J Med Genet 2019
Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris,[...]. J Med Genet 2019
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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Matilde Navarro, Hector Salvador, Francesc Balaguer, Silvia Iglesias, Angela Velasco,[...]. J Med Genet 2020
Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Matilde Navarro, Hector Salvador, Francesc Balaguer, Silvia Iglesias, Angela Velasco,[...]. J Med Genet 2020
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Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
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The landscape of genomic alterations across childhood cancers.
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Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
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Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
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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.
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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
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Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).
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RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.
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A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.
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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
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Development of a fluorescent multiplex assay for detection of MSI-High tumors.
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Performance evaluation for rapid detection of pan-cancer microsatellite instability with MANTIS.
Esko A Kautto, Russell Bonneville, Jharna Miya, Lianbo Yu, Melanie A Krook, Julie W Reeser, Sameek Roychowdhury. Oncotarget 2017
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Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
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Signatures of mutational processes in human cancer.
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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
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25
Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency.
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Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.
Carol Durno, C Richard Boland, Shlomi Cohen, Jason A Dominitz, Frank M Giardiello, David A Johnson, Tonya Kaltenbach, T R Levin, David Lieberman, Douglas J Robertson,[...]. Gastroenterology 2017
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Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.
S I Shiran, L Ben-Sira, R Elhasid, J Roth, U Tabori, M Yalon, S Constantini, R Dvir. AJNR Am J Neuroradiol 2018
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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
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Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.
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Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.
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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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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
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Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair.
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Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
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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.