A citation-based method for searching scientific literature

Amanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, Paolo Radice, Olga M Sinilnikova. Hum Mutat 2008
Times Cited: 90







List of co-cited articles
540 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
38

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
27

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
27

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
27

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
26

Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
26

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
25

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
C Bonnet, S Krieger, M Vezain, A Rousselin, I Tournier, A Martins, P Berthet, A Chevrier, C Dugast, V Layet,[...]. J Med Genet 2008
91
25

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Claude Houdayer, Virginie Caux-Moncoutier, Sophie Krieger, Michel Barrois, Françoise Bonnet, Violaine Bourdon, Myriam Bronner, Monique Buisson, Florence Coulet, Pascaline Gaildrat,[...]. Hum Mutat 2012
144
24


Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
Maaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, Geraldine R Vink, Cees J Cornelisse, Juul T Wijnen, Egbert Bakker, Christi J van Asperen, Peter Devilee. Hum Mutat 2009
76
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
20

Assessment of functional effects of unclassified genetic variants.
Fergus J Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N A Monteiro, Marc S Greenblatt, Niels de Wind. Hum Mutat 2008
80
22

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

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Logan C Walker, Phillip J Whiley, Fergus J Couch, Daniel J Farrugia, Sue Healey, Diana M Eccles, Feng Lin, Samantha A Butler, Sheila A Goff, Bryony A Thompson,[...]. Hum Mutat 2010
46
36

Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Claude Houdayer, Catherine Dehainault, Christophe Mattler, Dorothée Michaux, Virginie Caux-Moncoutier, Sabine Pagès-Berhouet, Catherine Dubois d'Enghien, Anthony Laugé, Laurent Castera, Marion Gauthier-Villars,[...]. Hum Mutat 2008
125
17

ESEfinder: A web resource to identify exonic splicing enhancers.
Luca Cartegni, Jinhua Wang, Zhengwei Zhu, Michael Q Zhang, Adrian R Krainer. Nucleic Acids Res 2003
17

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
Diana Baralle, Anneke Lucassen, Emanuele Buratti. EMBO Rep 2009
79
18

Predictive identification of exonic splicing enhancers in human genes.
William G Fairbrother, Ru-Fang Yeh, Phillip A Sharp, Christopher B Burge. Science 2002
790
16

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
David J Sanz, Alberto Acedo, Mar Infante, Mercedes Durán, Lucía Pérez-Cabornero, Eva Esteban-Cardeñosa, Enrique Lastra, Franco Pagani, Cristina Miner, Eladio A Velasco. Clin Cancer Res 2010
73
20

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
Jean Christophe Théry, Sophie Krieger, Pascaline Gaildrat, Françoise Révillion, Marie-Pierre Buisine, Audrey Killian, Christiane Duponchel, Antoine Rousselin, Dominique Vaur, Jean-Philippe Peyrat,[...]. Eur J Hum Genet 2011
73
20

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
15

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Phillip J Whiley, Miguel de la Hoya, Mads Thomassen, Alexandra Becker, Rita Brandão, Inge Sokilde Pedersen, Marco Montagna, Mireia Menéndez, Francisco Quiles, Sara Gutiérrez-Enríquez,[...]. Clin Chem 2014
46
30

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
21

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
A A Tesoriero, E M Wong, M A Jenkins, J L Hopper, M A Brown, G Chenevix-Trench, A B Spurdle, M C Southey. Hum Mutat 2005
42
30

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
25

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
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
18

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.
Kathleen Claes, Bruce Poppe, Eva Machackova, Ilse Coene, Lenka Foretova, Anne De Paepe, Ludwine Messiaen. Genes Chromosomes Cancer 2003
68
17

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Phillip J Whiley, Lucia Guidugli, Logan C Walker, Sue Healey, Bryony A Thompson, Sunil R Lakhani, Leonard M Da Silva, Sean V Tavtigian, David E Goldgar, Melissa A Brown,[...]. Hum Mutat 2011
40
30

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Mads Thomassen, Ana Blanco, Marco Montagna, Thomas V O Hansen, Inge S Pedersen, Sara Gutiérrez-Enríquez, Mireia Menéndez, Laura Fachal, Marta Santamariña, Ane Y Steffensen,[...]. Breast Cancer Res Treat 2012
47
25

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Amanda B Spurdle, Sue Healey, Andrew Devereau, Frans B L Hogervorst, Alvaro N A Monteiro, Katherine L Nathanson, Paolo Radice, Dominique Stoppa-Lyonnet, Sean Tavtigian, Barbara Wappenschmidt,[...]. Hum Mutat 2012
181
13

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Logan C Walker, Phillip J Whiley, Claude Houdayer, Thomas V O Hansen, Ana Vega, Marta Santamarina, Ana Blanco, Laura Fachal, Melissa C Southey, Alan Lafferty,[...]. Hum Mutat 2013
29
41

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
28

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
24

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 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
11

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
17


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
59
16

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
Y Miki, J Swensen, D Shattuck-Eidens, P A Futreal, K Harshman, S Tavtigian, Q Liu, C Cochran, L M Bennett, W Ding. Science 1994
11

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
10

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
63
14

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Mara Colombo, Giovanna De Vecchi, Laura Caleca, Claudia Foglia, Carla B Ripamonti, Filomena Ficarazzi, Monica Barile, Liliana Varesco, Bernard Peissel, Siranoush Manoukian,[...]. PLoS One 2013
39
23

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
292
10

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
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
13


Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Paul K Lovelock, Amanda B Spurdle, Myth T S Mok, Daniel J Farrugia, Sunil R Lakhani, Sue Healey, Stephen Arnold, Daniel Buchanan, Fergus J Couch, Beric R Henderson,[...]. Breast Cancer Res 2007
48
16


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.