A citation-based method for searching scientific literature

Fergus J Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N A Monteiro, Marc S Greenblatt, Niels de Wind. Hum Mutat 2008
Times Cited: 80







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



Times Cited
  Times     Co-cited
Similarity


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
542
48

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.
David E Goldgar, Douglas F Easton, Graham B Byrnes, Amanda B Spurdle, Edwin S Iversen, Marc S Greenblatt. Hum Mutat 2008
131
47

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Douglas F Easton, Amie M Deffenbaugh, Dmitry Pruss, Cynthia Frye, Richard J Wenstrup, Kristina Allen-Brady, Sean V Tavtigian, Alvaro N A Monteiro, Edwin S Iversen, Fergus J Couch,[...]. Am J Hum Genet 2007
309
41

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.
David E Goldgar, Douglas F Easton, Amie M Deffenbaugh, Alvaro N A Monteiro, Sean V Tavtigian, Fergus J Couch. Am J Hum Genet 2004
274
33

In silico analysis of missense substitutions using sequence-alignment based methods.
Sean V Tavtigian, Marc S Greenblatt, Fabienne Lesueur, Graham B Byrnes. Hum Mutat 2008
144
33


Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
Jianghua Ou, Renée C Niessen, Anne Lützen, Rolf H Sijmons, Jan H Kleibeuker, Niels de Wind, Lene Juel Rasmussen, Robert M W Hofstra. Hum Mutat 2007
45
42

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Elizabeth C Chao, Jonathan L Velasquez, Mavee S L Witherspoon, Laura S Rozek, David Peel, Pauline Ng, Stephen B Gruber, Patrice Watson, Gad Rennert, Hoda Anton-Culver,[...]. Hum Mutat 2008
86
23

Prediction and assessment of splicing alterations: implications for clinical testing.
Amanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, Paolo Radice, Olga M Sinilnikova. Hum Mutat 2008
90
22

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.
Robert M W Hofstra, Amanda B Spurdle, Diana Eccles, William D Foulkes, Niels de Wind, Nicoline Hoogerbrugge, Frans B L Hogervorst. Hum Mutat 2008
39
46

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Tiina E Raevaara, Mari K Korhonen, Hannes Lohi, Heather Hampel, Elly Lynch, Karin E Lönnqvist, Elke Holinski-Feder, Christian Sutter, Wendy McKinnon, Sekhar Duraisamy,[...]. Gastroenterology 2005
146
20

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.
Amanda B Spurdle, Sunil R Lakhani, Sue Healey, Suzanne Parry, Leonard M Da Silva, Ross Brinkworth, John L Hopper, Melissa A Brown, Davit Babikyan, Georgia Chenevix-Trench,[...]. J Clin Oncol 2008
61
24

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Isabelle Tournier, Myriam Vezain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert-Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi,[...]. Hum Mutat 2008
118
18

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Masanobu Takahashi, Hideki Shimodaira, Corinne Andreutti-Zaugg, Richard Iggo, Richard D Kolodner, Chikashi Ishioka. Cancer Res 2007
104
18

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.
Sean V Tavtigian, Marc S Greenblatt, David E Goldgar, Paolo Boffetta. Hum Mutat 2008
56
26

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Georgia Chenevix-Trench, Sue Healey, Sunil Lakhani, Paul Waring, Margaret Cummings, Ross Brinkworth, Amie M Deffenbaugh, Lynn Anne Burbidge, Dmitry Pruss, Thad Judkins,[...]. Cancer Res 2006
131
17

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Rebecca A Barnetson, Nicola Cartwright, Annelot van Vliet, Naila Haq, Kate Drew, Susan Farrington, Nicola Williams, Jon Warner, Harry Campbell, Mary E Porteous,[...]. Hum Mutat 2008
61
21

Functional assays for classification of BRCA2 variants of uncertain significance.
Daniel J Farrugia, Mukesh K Agarwal, Vernon S Pankratz, Amie M Deffenbaugh, Dmitry Pruss, Cynthia Frye, Linda Wadum, Kiley Johnson, Jennifer Mentlick, Sean V Tavtigian,[...]. Cancer Res 2008
88
16

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
Marc S Greenblatt, Lawrence C Brody, William D Foulkes, Maurizio Genuardi, Robert M W Hofstra, Magali Olivier, Sharon E Plon, Rolf H Sijmons, Olga Sinilnikova, Amanda B Spurdle. Hum Mutat 2008
29
41

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.
S V Tavtigian, A M Deffenbaugh, L Yin, T Judkins, T Scholl, P B Samollow, D de Silva, A Zharkikh, A Thomas. J Med Genet 2006
473
15


Mechanisms of pathogenicity in human MSH2 missense mutants.
Saara Ollila, Denis Dermadi Bebek, Josef Jiricny, Minna Nyström. Hum Mutat 2008
44
25

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
Philip A Chan, Sekhar Duraisamy, Peter J Miller, Joan A Newell, Carole McBride, Jeffrey P Bond, Tiina Raevaara, Saara Ollila, Minna Nyström, Andrew J Grimm,[...]. Hum Mutat 2007
97
13

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
H Shimodaira, N Filosi, H Shibata, T Suzuki, P Radice, R Kanamaru, S H Friend, R D Kolodner, C Ishioka. Nat Genet 1998
124
13

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
44
25

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
Sven Arnold, Daniel D Buchanan, Melissa Barker, Lesley Jaskowski, Michael D Walsh, Genevieve Birney, Michael O Woods, John L Hopper, Mark A Jenkins, Melissa A Brown,[...]. Hum Mutat 2009
52
21

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
13

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
Jessie Auclair, Marie Pierre Busine, Claudine Navarro, Eric Ruano, Gilles Montmain, Françoise Desseigne, Jean Christophe Saurin, Christine Lasset, Valérie Bonadona, Sophie Giraud,[...]. Hum Mutat 2006
66
15

A new variant database for mismatch repair genes associated with Lynch syndrome.
Michael O Woods, Phillip Williams, Amanda Careen, Laura Edwards, Sylvia Bartlett, John R McLaughlin, H Banfield Younghusband. Hum Mutat 2007
87
12

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
Andrew D Spearman, Kevin Sweet, Xiao-Ping Zhou, Jane McLennan, Fergus J Couch, Amanda Ewart Toland. J Clin Oncol 2008
62
16

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Saara Ollila, Laura Sarantaus, Reetta Kariola, Philip Chan, Heather Hampel, Elke Holinski-Feder, Finlay Macrae, Maija Kohonen-Corish, Anne-Marie Gerdes, Päivi Peltomäki,[...]. Gastroenterology 2006
50
20

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Marcelo A Carvalho, Sylvia M Marsillac, Rachel Karchin, Siranoush Manoukian, Scott Grist, Ramona F Swaby, Turan P Urmenyi, Edson Rondinelli, Rosane Silva, Luis Gayol,[...]. Cancer Res 2007
91
12


A database to support the interpretation of human mismatch repair gene variants.
Jianghua Ou, Renée C Niessen, Jan Vonk, Helga Westers, Robert M W Hofstra, Rolf H Sijmons. Hum Mutat 2008
43
20

A full-likelihood method for the evaluation of causality of sequence variants from family data.
Deborah Thompson, Douglas F Easton, David E Goldgar. Am J Hum Genet 2003
87
11


Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
Minna Nyström-Lahti, Claudia Perrera, Markus Räschle, Elena Panyushkina-Seiler, Giancarlo Marra, Anna Curci, Barbara Quaresima, Francesco Costanzo, Michele D'Urso, Salvatore Venuta,[...]. Genes Chromosomes Cancer 2002
89
11

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
11

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
Joerg Trojan, Stefan Zeuzem, Ann Randolph, Christine Hemmerle, Angela Brieger, Jochen Raedle, Guido Plotz, Josef Jiricny, Giancarlo Marra. Gastroenterology 2002
148
11

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
Emiko Kondo, Hideyuki Suzuki, Akira Horii, Shinichi Fukushige. Cancer Res 2003
58
15

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Asad Umar, C Richard Boland, Jonathan P Terdiman, Sapna Syngal, Albert de la Chapelle, Josef Rüschoff, Richard Fishel, Noralane M Lindor, Lawrence J Burgart, Richard Hamelin,[...]. J Natl Cancer Inst 2004
11


A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Noralane M Lindor, Lucia Guidugli, Xianshu Wang, Maxime P Vallée, Alvaro N A Monteiro, Sean Tavtigian, David E Goldgar, Fergus J Couch. Hum Mutat 2012
139
11


In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
Patrizia Lastella, Nicoletta Concetta Surdo, Nicoletta Resta, Ginevra Guanti, Alessandro Stella. BMC Genomics 2006
45
17



Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.
Reetta Kariola, Tiina E Raevaara, Karin E Lönnqvist, Minna Nyström-Lahti. Hum Mol Genet 2002
55
14

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
70
11

SIFT: Predicting amino acid changes that affect protein function.
Pauline C Ng, Steven Henikoff. Nucleic Acids Res 2003
10


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.