Lauren G Aoude, Ellen Heitzer, Peter Johansson, Michael Gartside, Karin Wadt, Antonia L Pritchard, Jane M Palmer, Judith Symmons, Anne-Marie Gerdes, Grant W Montgomery, Nicholas G Martin, Ian Tomlinson, Stephen Kearsey, Nicholas K Hayward. Fam Cancer 2015
Times Cited: 34
Times Cited: 34
Times Cited
Times Co-cited
Similarity
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
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
44
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
Maren F Hansen, Jostein Johansen, Inga Bjørnevoll, Anna E Sylvander, Kristin S Steinsbekk, Pål Sætrom, Arne K Sandvik, Finn Drabløs, Wenche Sjursen. Fam Cancer 2015
Maren F Hansen, Jostein Johansen, Inga Bjørnevoll, Anna E Sylvander, Kristin S Steinsbekk, Pål Sætrom, Arne K Sandvik, Finn Drabløs, Wenche Sjursen. Fam Cancer 2015
41
A mutation in POLE predisposing to a multi-tumour phenotype.
Anna Rohlin, Theofanis Zagoras, Staffan Nilsson, Ulf Lundstam, Jan Wahlström, Leif Hultén, Tommy Martinsson, Göran B Karlsson, Margareta Nordling. Int J Oncol 2014
Anna Rohlin, Theofanis Zagoras, Staffan Nilsson, Ulf Lundstam, Jan Wahlström, Leif Hultén, Tommy Martinsson, Göran B Karlsson, Margareta Nordling. Int J Oncol 2014
35
TERT promoter mutations in familial and sporadic melanoma.
Susanne Horn, Adina Figl, P Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki,[...]. Science 2013
Susanne Horn, Adina Figl, P Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki,[...]. Science 2013
35
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Isabel Spier, Stefanie Holzapfel, Janine Altmüller, Bixiao Zhao, Sukanya Horpaopan, Stefanie Vogt, Sophia Chen, Monika Morak, Susanne Raeder, Katrin Kayser,[...]. Int J Cancer 2015
Isabel Spier, Stefanie Holzapfel, Janine Altmüller, Bixiao Zhao, Sukanya Horpaopan, Stefanie Vogt, Sophia Chen, Monika Morak, Susanne Raeder, Katrin Kayser,[...]. Int J Cancer 2015
32
POT1 loss-of-function variants predispose to familial melanoma.
Carla Daniela Robles-Espinoza, Mark Harland, Andrew J Ramsay, Lauren G Aoude, Víctor Quesada, Zhihao Ding, Karen A Pooley, Antonia L Pritchard, Jessamy C Tiffen, Mia Petljak,[...]. Nat Genet 2014
Carla Daniela Robles-Espinoza, Mark Harland, Andrew J Ramsay, Lauren G Aoude, Víctor Quesada, Zhihao Ding, Karen A Pooley, Antonia L Pritchard, Jessamy C Tiffen, Mia Petljak,[...]. Nat Genet 2014
32
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Laura Valle, Eva Hernández-Illán, Fernando Bellido, Gemma Aiza, Adela Castillejo, María-Isabel Castillejo, Matilde Navarro, Nuria Seguí, Gardenia Vargas, Carla Guarinos,[...]. Hum Mol Genet 2014
Laura Valle, Eva Hernández-Illán, Fernando Bellido, Gemma Aiza, Adela Castillejo, María-Isabel Castillejo, Matilde Navarro, Nuria Seguí, Gardenia Vargas, Carla Guarinos,[...]. Hum Mol Genet 2014
29
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder,[...]. Genet Med 2016
Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder,[...]. Genet Med 2016
29
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Lauren G Aoude, Antonia L Pritchard, Carla Daniela Robles-Espinoza, Karin Wadt, Mark Harland, Jiyeon Choi, Michael Gartside, Víctor Quesada, Peter Johansson, Jane M Palmer,[...]. J Natl Cancer Inst 2014
Lauren G Aoude, Antonia L Pritchard, Carla Daniela Robles-Espinoza, Karin Wadt, Mark Harland, Jiyeon Choi, Michael Gartside, Víctor Quesada, Peter Johansson, Jane M Palmer,[...]. J Natl Cancer Inst 2014
29
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Corine Bertolotto, Fabienne Lesueur, Sandy Giuliano, Thomas Strub, Mahaut de Lichy, Karine Bille, Philippe Dessen, Benoit d'Hayer, Hamida Mohamdi, Audrey Remenieras,[...]. Nature 2011
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29
26
Signatures of mutational processes in human cancer.
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Ludmil B Alexandrov, Serena Nik-Zainal, David C Wedge, Samuel A J R Aparicio, Sam Behjati, Andrew V Biankin, Graham R Bignell, Niccolò Bolli, Ake Borg, Anne-Lise Børresen-Dale,[...]. Nature 2013
23
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
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David N Church, Sarah E W Briggs, Claire Palles, Enric Domingo, Stephen J Kearsey, Jonathon M Grimes, Maggie Gorman, Lynn Martin, Kimberley M Howarth, Shirley V Hodgson,[...]. Hum Mol Genet 2013
23
Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.
Sarah Briggs, Ian Tomlinson. J Pathol 2013
Sarah Briggs, Ian Tomlinson. J Pathol 2013
23
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Jianxin Shi, Xiaohong R Yang, Bari Ballew, Melissa Rotunno, Donato Calista, Maria Concetta Fargnoli, Paola Ghiorzo, Brigitte Bressac-de Paillerets, Eduardo Nagore, Marie Francoise Avril,[...]. Nat Genet 2014
Jianxin Shi, Xiaohong R Yang, Bari Ballew, Melissa Rotunno, Donato Calista, Maria Concetta Fargnoli, Paola Ghiorzo, Brigitte Bressac-de Paillerets, Eduardo Nagore, Marie Francoise Avril,[...]. Nat Genet 2014
23
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Satoru Yokoyama, Susan L Woods, Glen M Boyle, Lauren G Aoude, Stuart MacGregor, Victoria Zismann, Michael Gartside, Anne E Cust, Rizwan Haq, Mark Harland,[...]. Nature 2011
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Genetics of familial melanoma: 20 years after CDKN2A.
Lauren G Aoude, Karin A W Wadt, Antonia L Pritchard, Nicholas K Hayward. Pigment Cell Melanoma Res 2015
Lauren G Aoude, Karin A W Wadt, Antonia L Pritchard, Nicholas K Hayward. Pigment Cell Melanoma Res 2015
23
A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma.
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38
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.
Eve Shinbrot, Erin E Henninger, Nils Weinhold, Kyle R Covington, A Yasemin Göksenin, Nikolaus Schultz, Hsu Chao, HarshaVardhan Doddapaneni, Donna M Muzny, Richard A Gibbs,[...]. Genome Res 2014
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20
Integrated genomic characterization of endometrial carcinoma.
Cyriac Kandoth, Nikolaus Schultz, Andrew D Cherniack, Rehan Akbani, Yuexin Liu, Hui Shen, A Gordon Robertson, Itai Pashtan, Ronglai Shen, Christopher C Benz,[...]. Nature 2013
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20
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Daniel Chubb, Peter Broderick, Sara E Dobbins, Matthew Frampton, Ben Kinnersley, Steven Penegar, Amy Price, Yussanne P Ma, Amy L Sherborne, Claire Palles,[...]. Nat Commun 2016
Daniel Chubb, Peter Broderick, Sara E Dobbins, Matthew Frampton, Ben Kinnersley, Steven Penegar, Amy Price, Yussanne P Ma, Amy L Sherborne, Claire Palles,[...]. Nat Commun 2016
20
A panoply of errors: polymerase proofreading domain mutations in cancer.
Emily Rayner, Inge C van Gool, Claire Palles, Stephen E Kearsey, Tjalling Bosse, Ian Tomlinson, David N Church. Nat Rev Cancer 2016
Emily Rayner, Inge C van Gool, Claire Palles, Stephen E Kearsey, Tjalling Bosse, Ian Tomlinson, David N Church. Nat Rev Cancer 2016
20
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno,[...]. J Med Genet 2007
Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno,[...]. J Med Genet 2007
20
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.
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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
20
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.
E Zeynep Erson-Omay, Ahmet Okay Çağlayan, Nikolaus Schultz, Nils Weinhold, S Bülent Omay, Koray Özduman, Yavuz Köksal, Jie Li, Akdes Serin Harmancı, Victoria Clark,[...]. Neuro Oncol 2015
E Zeynep Erson-Omay, Ahmet Okay Çağlayan, Nikolaus Schultz, Nils Weinhold, S Bülent Omay, Koray Özduman, Yavuz Köksal, Jie Li, Akdes Serin Harmancı, Victoria Clark,[...]. Neuro Oncol 2015
17
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Fadwa A Elsayed, C Marleen Kets, Dina Ruano, Brendy van den Akker, Arjen R Mensenkamp, Melanie Schrumpf, Maartje Nielsen, Juul T Wijnen, Carli M Tops, Marjolijn J Ligtenberg,[...]. Eur J Hum Genet 2015
Fadwa A Elsayed, C Marleen Kets, Dina Ruano, Brendy van den Akker, Arjen R Mensenkamp, Melanie Schrumpf, Maartje Nielsen, Juul T Wijnen, Carli M Tops, Marjolijn J Ligtenberg,[...]. Eur J Hum Genet 2015
17
The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data.
Ethan Cerami, Jianjiong Gao, Ugur Dogrusoz, Benjamin E Gross, Selcuk Onur Sumer, Bülent Arman Aksoy, Anders Jacobsen, Caitlin J Byrne, Michael L Heuer, Erik Larsson,[...]. Cancer Discov 2012
Ethan Cerami, Jianjiong Gao, Ugur Dogrusoz, Benjamin E Gross, Selcuk Onur Sumer, Bülent Arman Aksoy, Anders Jacobsen, Caitlin J Byrne, Michael L Heuer, Erik Larsson,[...]. Cancer Discov 2012
17
A common cancer-associated DNA polymerase ε mutation causes an exceptionally strong mutator phenotype, indicating fidelity defects distinct from loss of proofreading.
Daniel P Kane, Polina V Shcherbakova. Cancer Res 2014
Daniel P Kane, Polina V Shcherbakova. Cancer Res 2014
17
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.
Anne Ml Jansen, Tom van Wezel, Brendy Ewm van den Akker, Marina Ventayol Garcia, Dina Ruano, Carli Mj Tops, Anja Wagner, Tom Gw Letteboer, Encarna B Gómez-García, Peter Devilee,[...]. Eur J Hum Genet 2016
Anne Ml Jansen, Tom van Wezel, Brendy Ewm van den Akker, Marina Ventayol Garcia, Dina Ruano, Carli Mj Tops, Anja Wagner, Tom Gw Letteboer, Encarna B Gómez-García, Peter Devilee,[...]. Eur J Hum Genet 2016
17
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Alisa M Goldstein, May Chan, Mark Harland, Elizabeth M Gillanders, Nicholas K Hayward, Marie-Francoise Avril, Esther Azizi, Giovanna Bianchi-Scarra, D Timothy Bishop, Brigitte Bressac-de Paillerets,[...]. Cancer Res 2006
Alisa M Goldstein, May Chan, Mark Harland, Elizabeth M Gillanders, Nicholas K Hayward, Marie-Francoise Avril, Esther Azizi, Giovanna Bianchi-Scarra, D Timothy Bishop, Brigitte Bressac-de Paillerets,[...]. Cancer Res 2006
17
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Hanne Eknes Puntervoll, Xiaohong R Yang, Hildegunn Høberg Vetti, Ingeborg M Bachmann, Marie Françoise Avril, Meriem Benfodda, Caterina Catricalà, Stéphane Dalle, Anne B Duval-Modeste, Paola Ghiorzo,[...]. J Med Genet 2013
Hanne Eknes Puntervoll, Xiaohong R Yang, Hildegunn Høberg Vetti, Ingeborg M Bachmann, Marie Françoise Avril, Meriem Benfodda, Caterina Catricalà, Stéphane Dalle, Anne B Duval-Modeste, Paola Ghiorzo,[...]. J Med Genet 2013
17
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
L Zuo, J Weger, Q Yang, A M Goldstein, M A Tucker, G J Walker, N Hayward, N C Dracopoli. Nat Genet 1996
L Zuo, J Weger, Q Yang, A M Goldstein, M A Tucker, G J Walker, N Hayward, N C Dracopoli. Nat Genet 1996
17
Update in genetic susceptibility in melanoma.
Miriam Potrony, Celia Badenas, Paula Aguilera, Joan Anton Puig-Butille, Cristina Carrera, Josep Malvehy, Susana Puig. Ann Transl Med 2015
Miriam Potrony, Celia Badenas, Paula Aguilera, Joan Anton Puig-Butille, Cristina Carrera, Josep Malvehy, Susana Puig. Ann Transl Med 2015
17
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Thomas P Potjer, Sander Bollen, Anneliese J E M Grimbergen, Remco van Doorn, Nelleke A Gruis, Christi J van Asperen, Frederik J Hes, Nienke van der Stoep. Int J Cancer 2019
Thomas P Potjer, Sander Bollen, Anneliese J E M Grimbergen, Remco van Doorn, Nelleke A Gruis, Christi J van Asperen, Frederik J Hes, Nienke van der Stoep. Int J Cancer 2019
23
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Daniel Chubb, Peter Broderick, Matthew Frampton, Ben Kinnersley, Amy Sherborne, Steven Penegar, Amy Lloyd, Yussanne P Ma, Sara E Dobbins, Richard S Houlston. J Clin Oncol 2015
Daniel Chubb, Peter Broderick, Matthew Frampton, Ben Kinnersley, Amy Sherborne, Steven Penegar, Amy Lloyd, Yussanne P Ma, Sara E Dobbins, Richard S Houlston. J Clin Oncol 2015
14
Structural basis for processive DNA synthesis by yeast DNA polymerase ɛ.
Matthew Hogg, Pia Osterman, Göran O Bylund, Rais A Ganai, Else-Britt Lundström, A Elisabeth Sauer-Eriksson, Erik Johansson. Nat Struct Mol Biol 2014
Matthew Hogg, Pia Osterman, Göran O Bylund, Rais A Ganai, Else-Britt Lundström, A Elisabeth Sauer-Eriksson, Erik Johansson. Nat Struct Mol Biol 2014
14
Recurrent R-spondin fusions in colon cancer.
Somasekar Seshagiri, Eric W Stawiski, Steffen Durinck, Zora Modrusan, Elaine E Storm, Caitlin B Conboy, Subhra Chaudhuri, Yinghui Guan, Vasantharajan Janakiraman, Bijay S Jaiswal,[...]. Nature 2012
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14
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.
Hildur Helgadottir, Veronica Höiom, Göran Jönsson, Rainer Tuominen, Christian Ingvar, Ake Borg, Håkan Olsson, Johan Hansson. J Med Genet 2014
Hildur Helgadottir, Veronica Höiom, Göran Jönsson, Rainer Tuominen, Christian Ingvar, Ake Borg, Håkan Olsson, Johan Hansson. J Med Genet 2014
14
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
D Timothy Bishop, Florence Demenais, Alisa M Goldstein, Wilma Bergman, Julia Newton Bishop, Brigitte Bressac-de Paillerets, Agnès Chompret, Paola Ghiorzo, Nelleke Gruis, Johan Hansson,[...]. J Natl Cancer Inst 2002
D Timothy Bishop, Florence Demenais, Alisa M Goldstein, Wilma Bergman, Julia Newton Bishop, Brigitte Bressac-de Paillerets, Agnès Chompret, Paola Ghiorzo, Nelleke Gruis, Johan Hansson,[...]. J Natl Cancer Inst 2002
14
Germline mutations in shelterin complex genes are associated with familial glioma.
Matthew N Bainbridge, Georgina N Armstrong, M Monica Gramatges, Alison A Bertuch, Shalini N Jhangiani, Harsha Doddapaneni, Lora Lewis, Joseph Tombrello, Spyros Tsavachidis, Yanhong Liu,[...]. J Natl Cancer Inst 2014
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14
Germline p16 mutations in familial melanoma.
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14
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
Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke-Plaass, Ulrich Lehmann, Johannes Zschocke,[...]. Fam Cancer 2017
14
Genome-wide association study identifies three new melanoma susceptibility loci.
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14
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Alisa M Goldstein, Yanzi Xiao, Joshua Sampson, Bin Zhu, Melissa Rotunno, Hunter Bennett, Yixuan Wen, Kristine Jones, Aurelie Vogt, Laurie Burdette,[...]. Hum Mol Genet 2017
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21
Identification, genetic testing, and management of hereditary melanoma.
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo. Cancer Metastasis Rev 2017
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14
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.
Mykyta Artomov, Alexander J Stratigos, Ivana Kim, Raj Kumar, Martin Lauss, Bobby Y Reddy, Benchun Miao, Carla Daniela Robles-Espinoza, Aravind Sankar, Ching-Ni Njauw,[...]. J Natl Cancer Inst 2017
Mykyta Artomov, Alexander J Stratigos, Ivana Kim, Raj Kumar, Martin Lauss, Bobby Y Reddy, Benchun Miao, Carla Daniela Robles-Espinoza, Aravind Sankar, Ching-Ni Njauw,[...]. J Natl Cancer Inst 2017
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POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer.
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11
Colon cancer-associated mutator DNA polymerase δ variant causes expansion of dNTP pools increasing its own infidelity.
Tony M Mertz, Sushma Sharma, Andrei Chabes, Polina V Shcherbakova. Proc Natl Acad Sci U S A 2015
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11
Prognostic significance of POLE proofreading mutations in endometrial cancer.
David N Church, Ellen Stelloo, Remi A Nout, Nadejda Valtcheva, Jeroen Depreeuw, Natalja ter Haar, Aurelia Noske, Frederic Amant, Ian P M Tomlinson, Peter J Wild,[...]. J Natl Cancer Inst 2014
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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.