A citation-based method for searching scientific literature

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, Sunil R Lakhani, Leonard M Da Silva, Sean V Tavtigian, David E Goldgar, Melissa A Brown, Amanda B Spurdle. Hum Mutat 2010
Times Cited: 46







List of co-cited articles
302 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
56

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
52

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
45

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
41

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
41

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
39

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
36

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
36

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
34


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
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
30

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
30

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
30


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
28

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

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
28

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
32

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
26

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
26

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Lucia Guidugli, Vernon S Pankratz, Namit Singh, James Thompson, Catherine A Erding, Christoph Engel, Rita Schmutzler, Susan Domchek, Katherine Nathanson, Paolo Radice,[...]. Cancer Res 2013
71
23

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

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
21

Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
21

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
Maxime P Vallée, Tiana C Francy, Megan K Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E Goldgar, Fergus J Couch, Sean V Tavtigian. Hum Mutat 2012
53
21

Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
Xiaowei Chen, Tuyet-Trinh N Truong, JoEllen Weaver, Betsy A Bove, Kimberly Cattie, Brock A Armstrong, Mary B Daly, Andrew K Godwin. Hum Mutat 2006
57
19

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.
Kangjian Wu, Shannon R Hinson, Akihiro Ohashi, Daniel Farrugia, Patricia Wendt, Sean V Tavtigian, Amie Deffenbaugh, David Goldgar, Fergus J Couch. Cancer Res 2005
101
19

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
19

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Mara Colombo, Marinus J Blok, Phillip Whiley, Marta Santamariña, Sara Gutiérrez-Enríquez, Atocha Romero, Pilar Garre, Alexandra Becker, Lindsay Denise Smith, Giovanna De Vecchi,[...]. Hum Mol Genet 2014
55
19

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
17

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

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

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

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
17

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
Megan S Lee, Ruth Green, Sylvia M Marsillac, Nicolas Coquelle, R Scott Williams, Telford Yeung, Desmond Foo, D Duong Hau, Ben Hui, Alvaro N A Monteiro,[...]. Cancer Res 2010
98
17

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
27

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.
Phillip J Whiley, Christopher A Pettigrew, Brooke L Brewster, Logan C Walker, Amanda B Spurdle, Melissa A Brown. BMC Med Genet 2010
15
46

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
Pascaline Gaildrat, Sophie Krieger, Jean-Christophe Théry, Audrey Killian, Antoine Rousselin, Pascaline Berthet, Thierry Frébourg, Agnès Hardouin, Alexandra Martins, Mario Tosi. J Med Genet 2010
32
21

Identification of the breast cancer susceptibility gene BRCA2.
R Wooster, G Bignell, J Lancaster, S Swift, S Seal, J Mangion, N Collins, S Gregory, C Gumbs, G Micklem. Nature 1995
15


Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
Virginie Caux-Moncoutier, Sabine Pagès-Berhouet, Dorothée Michaux, Bernard Asselain, Laurent Castéra, Antoine De Pauw, Bruno Buecher, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Claude Houdayer. Eur J Hum Genet 2009
29
20

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
Olga Anczuków, Monique Buisson, Marie-Josèphe Salles, Sarah Triboulet, Michel Longy, Rosette Lidereau, Olga M Sinilnikova, Sylvie Mazoyer. Genes Chromosomes Cancer 2008
29
20

RNA-based analysis of BRCA1 and BRCA2 gene alterations.
Fabrizia Bonatti, Chiara Pepe, Mariella Tancredi, Grazia Lombardi, Paolo Aretini, Elisa Sensi, Elisabetta Falaschi, Giovanna Cipollini, Generoso Bevilacqua, Maria Adelaide Caligo. Cancer Genet Cytogenet 2006
34
17

BRCA2 T2722R is a deleterious allele that causes exon skipping.
James D Fackenthal, Luca Cartegni, Adrian R Krainer, Olufunmilayo I Olopade. Am J Hum Genet 2002
80
13

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
Rita Dias Brandão, Kees van Roozendaal, Demis Tserpelis, Encarna Gómez García, Marinus J Blok. Breast Cancer Res Treat 2011
25
24

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
Edwin S Iversen, Fergus J Couch, David E Goldgar, Sean V Tavtigian, Alvaro N A Monteiro. Cancer Epidemiol Biomarkers Prev 2011
38
15

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
13

Functional assays for analysis of variants of uncertain significance in BRCA2.
Lucia Guidugli, Aura Carreira, Sandrine M Caputo, Asa Ehlen, Alvaro Galli, Alvaro N A Monteiro, Susan L Neuhausen, Thomas V O Hansen, Fergus J Couch, Maaike P G Vreeswijk. Hum Mutat 2014
69
13

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


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.