A citation-based method for searching scientific literature

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, Lars Jønson, Simona Agata, Phillip Whiley, Silvia Tognazzo, Eva Tornero, Uffe B Jensen, Judith Balmaña, Torben A Kruse, David E Goldgar, Conxi Lázaro, Orland Diez, Amanda B Spurdle, Ana Vega. Breast Cancer Res Treat 2012
Times Cited: 47







List of co-cited articles
385 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
44

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
40

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
34

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
31

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
31

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
31

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
31

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
35

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
30

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
29

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
29

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
29

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
25

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
25

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
25


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
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
23

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
21

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
25

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
21


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
19

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
36

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
19

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
19

Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
17

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
17

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
23

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
17

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
James D Fackenthal, Toshio Yoshimatsu, Bifeng Zhang, Gorka R de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha C Ayoub, Kumar Lal, Olufunmilayo I Olopade, Ana Vega,[...]. J Med Genet 2016
33
24

Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.
Vanesa Dosil, Alicia Tosar, Carmen Cañadas, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Miguel de la Hoya. Clin Chem 2010
17
41

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

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
14

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
14

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.
A Antoniou, P D P Pharoah, S Narod, H A Risch, J E Eyfjord, J L Hopper, N Loman, H Olsson, O Johannsson, A Borg,[...]. Am J Hum Genet 2003
14

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
14

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
Alberto Acedo, David J Sanz, Mercedes Durán, Mar Infante, Lucía Pérez-Cabornero, Cristina Miner, Eladio A Velasco. Breast Cancer Res 2012
39
17

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
14

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
24

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Karoline B Kuchenbaecker, John L Hopper, Daniel R Barnes, Kelly-Anne Phillips, Thea M Mooij, Marie-José Roos-Blom, Sarah Jervis, Flora E van Leeuwen, Roger L Milne, Nadine Andrieu,[...]. JAMA 2017
783
14

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
Sergey G Kuznetsov, Pentao Liu, Shyam K Sharan. Nat Med 2008
91
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
12


Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
Eva Machackova, Lenka Foretova, Mirka Lukesova, Petra Vasickova, Marie Navratilova, Ilse Coene, Hana Pavlu, Veronika Kosinova, Jitka Kuklova, Kathleen Claes. BMC Cancer 2008
45
13

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
Pascaline Gaildrat, Sophie Krieger, Daniela Di Giacomo, Julie Abdat, Françoise Révillion, Sandrine Caputo, Dominique Vaur, Estelle Jamard, Elodie Bohers, Danielle Ledemeney,[...]. J Med Genet 2012
39
15

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
12

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy.
Hannah Farmer, Nuala McCabe, Christopher J Lord, Andrew N J Tutt, Damian A Johnson, Tobias B Richardson, Manuela Santarosa, Krystyna J Dillon, Ian Hickson, Charlotte Knights,[...]. Nature 2005
12

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Barbara Wappenschmidt, Alexandra A Becker, Jan Hauke, Ute Weber, Stefanie Engert, Juliane Köhler, Karin Kast, Norbert Arnold, Kerstin Rhiem, Eric Hahnen,[...]. PLoS One 2012
33
18

Accurate classification of BRCA1 variants with saturation genome editing.
Gregory M Findlay, Riza M Daza, Beth Martin, Melissa D Zhang, Anh P Leith, Molly Gasperini, Joseph D Janizek, Xingfan Huang, Lea M Starita, Jay Shendure. Nature 2018
218
12


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.