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



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  Times     Co-cited
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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
245
53

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
102
46

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
132
31

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
511
30

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
Doua Bakry, Melyssa Aronson, Carol Durno, Hala Rimawi, Roula Farah, Qasim Kholaif Alharbi, Musa Alharbi, Ashraf Shamvil, Shay Ben-Shachar, Matthew Mistry,[...]. Eur J Cancer 2014
130
30

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
N Lavoine, C Colas, M Muleris, S Bodo, A Duval, N Entz-Werle, F Coulet, O Cabaret, F Andreiuolo, C Charpy,[...]. J Med Genet 2015
73
26


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
218
21

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1.
D Gareth R Evans, Hector Salvador, Vivian Y Chang, Ayelet Erez, Stephan D Voss, Kami Wolfe Schneider, Hamish S Scott, Sharon E Plon, Uri Tabori. Clin Cancer Res 2017
84
21

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
33
36

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
27
44

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen, Suxia Yao, Hilde Brems, Tom Callens, Achara Sathienkijkanchai, Ellen Denayer, Emily Spencer, Pamela Arn, Dusica Babovic-Vuksanovic, Carolyn Bay,[...]. JAMA 2009
115
18

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
37
29

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen. Clin Genet 2018
15
73

Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
Q Wang, C Lasset, F Desseigne, D Frappaz, C Bergeron, C Navarro, E Ruano, A Puisieux. Cancer Res 1999
185
16

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
61
16

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Hilde Brems, Magdalena Chmara, Mourad Sahbatou, Ellen Denayer, Koji Taniguchi, Reiko Kato, Riet Somers, Ludwine Messiaen, Sofie De Schepper, Jean-Pierre Fryns,[...]. Nat Genet 2007
283
15

Germline Mutations in Predisposition Genes in Pediatric Cancer.
Jinghui Zhang, Michael F Walsh, Gang Wu, Michael N Edmonson, Tanja A Gruber, John Easton, Dale Hedges, Xiaotu Ma, Xin Zhou, Donald A Yergeau,[...]. N Engl J Med 2015
604
15


Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Anita Villani, Ari Shore, Jonathan D Wasserman, Derek Stephens, Raymond H Kim, Harriet Druker, Bailey Gallinger, Anne Naumer, Wendy Kohlmann, Ana Novokmet,[...]. Lancet Oncol 2016
258
13

Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
D G Evans, E Howard, C Giblin, T Clancy, H Spencer, S M Huson, F Lalloo. Am J Med Genet A 2010
476
13

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
M Upadhyaya, S M Huson, M Davies, N Thomas, N Chuzhanova, S Giovannini, D G Evans, E Howard, B Kerr, S Griffiths,[...]. Am J Hum Genet 2007
219
13

Comprehensive Analysis of Hypermutation in Human Cancer.
Brittany B Campbell, Nicholas Light, David Fabrizio, Matthew Zatzman, Fabio Fuligni, Richard de Borja, Scott Davidson, Melissa Edwards, Julia A Elvin, Karl P Hodel,[...]. Cell 2017
420
13

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
11

High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan.
Nisreen Amayiri, Uri Tabori, Brittany Campbell, Doua Bakry, Melyssa Aronson, Carol Durno, Patricia Rakopoulos, David Malkin, Ibrahim Qaddoumi, Awni Musharbash,[...]. Int J Cancer 2016
43
16

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Melyssa Aronson, Steven Gallinger, Zane Cohen, Shlomi Cohen, Rina Dvir, Ronit Elhasid, Hagit N Baris, Revital Kariv, Harriet Druker, Helen Chan,[...]. Am J Gastroenterol 2016
28
25

Malignant peripheral nerve sheath tumours in neurofibromatosis 1.
D G R Evans, M E Baser, J McGaughran, S Sharif, E Howard, A Moran. J Med Genet 2002
713
11

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin,[...]. Hum Mutat 2015
103
11

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1.
Elina Uusitalo, Matti Rantanen, Roope A Kallionpää, Minna Pöyhönen, Jussi Leppävirta, Heli Ylä-Outinen, Vincent M Riccardi, Eero Pukkala, Janne Pitkäniemi, Sirkku Peltonen,[...]. J Clin Oncol 2016
156
11

Elevated risk for MPNST in NF1 microdeletion patients.
T De Raedt, H Brems, P Wolkenstein, D Vidaud, S Pilotti, F Perrone, V Mautner, S Frahm, R Sciot, E Legius. Am J Hum Genet 2003
178
11

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.
Harm Westdorp, Sigrid Kolders, Nicoline Hoogerbrugge, I Jolanda M de Vries, Marjolijn C J Jongmans, Gerty Schreibelt. Cancer Lett 2017
28
25

Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients.
Jean-Sébastien Guillamo, Alain Créange, Chantal Kalifa, Jacques Grill, Diana Rodriguez, François Doz, Sébastien Barbarot, Michel Zerah, Marc Sanson, Sylvie Bastuji-Garin,[...]. Brain 2003
168
11

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
Gaëlle Bougeard, Mariette Renaux-Petel, Jean-Michel Flaman, Camille Charbonnier, Pierre Fermey, Muriel Belotti, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Emilie Consolino, Laurence Brugières,[...]. J Clin Oncol 2015
342
11

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
D Williams Parsons, Angshumoy Roy, Yaping Yang, Tao Wang, Sarah Scollon, Katie Bergstrom, Robin A Kerstein, Stephanie Gutierrez, Andrea K Petersen, Abhishek Bavle,[...]. JAMA Oncol 2016
263
11

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
11

Prevalence of neurofibromatosis 1 in German children at elementary school enrollment.
Marga Lammert, Jan M Friedman, Lan Kluwe, Victor F Mautner. Arch Dermatol 2005
228
11

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
M D Ricciardone, T Ozçelik, B Cevher, H Ozdağ, M Tuncer, A Gürgey, O Uzunalimoğlu, H Cetinkaya, A Tanyeli, E Erken,[...]. Cancer Res 1999
187
11

Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
Carol A Durno, Philip M Sherman, Melyssa Aronson, David Malkin, Cynthia Hawkins, Doua Bakry, Eric Bouffet, Steven Gallinger, Aaron Pollett, Brittany Campbell,[...]. Eur J Cancer 2015
66
10

Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.
Carol A Durno, Melyssa Aronson, Uri Tabori, David Malkin, Steven Gallinger, Helen S L Chan. Pediatr Blood Cancer 2012
56
10

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Lili Li, Nancy Hamel, Kristi Baker, Michael J McGuffin, Martin Couillard, Adrian Gologan, Victoria A Marcus, Bernard Chodirker, Albert Chudley, Camelia Stefanovici,[...]. J Med Genet 2015
24
25

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
128
10

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke-Plaass, Ulrich Lehmann, Johannes Zschocke,[...]. Fam Cancer 2017
35
17

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1.
Rosa Nguyen, Kimberly Jett, Gordon J Harris, Wenli Cai, Jan M Friedman, Victor-Felix Mautner. J Neurooncol 2014
45
13

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
Rosalie E Ferner, Susan M Huson, Nick Thomas, Celia Moss, Harry Willshaw, D Gareth Evans, Meena Upadhyaya, Richard Towers, Michael Gleeson, Christine Steiger,[...]. J Med Genet 2007
538
10

Incidence and mortality of neurofibromatosis: a total population study in Finland.
Elina Uusitalo, Jussi Leppävirta, Anna Koffert, Sakari Suominen, Jussi Vahtera, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen. J Invest Dermatol 2015
105
10

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett,[...]. Am J Hum Genet 2018
90
10

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli,[...]. Eur J Hum Genet 2015
79
10

Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr.
Garrett M Brodeur, Kim E Nichols, Sharon E Plon, Joshua D Schiffman, David Malkin. Clin Cancer Res 2017
80
10

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.
Robert Listernick, Rosalie E Ferner, Grant T Liu, David H Gutmann. Ann Neurol 2007
338
10

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Hagit N Baris, Inbal Barnes-Kedar, Helen Toledano, Marisa Halpern, Dov Hershkovitz, Alexander Lossos, Israela Lerer, Tamar Peretz, Revital Kariv, Shlomi Cohen,[...]. Pediatr Blood Cancer 2016
21
28


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.