A citation-based method for searching scientific literature

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
Times Cited: 74







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



Times Cited
  Times     Co-cited
Similarity


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
146
37

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
35

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
35

Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
28

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
77
25

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
39


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
548
22

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
43

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
312
21

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
34

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
58
27

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
20

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
20

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
20

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
48
31

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
18

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
182
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
19

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

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
44

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
17

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
16

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
16

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
16

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
Diana Baralle, Anneke Lucassen, Emanuele Buratti. EMBO Rep 2009
80
16

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
140
16

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
30

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
26

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

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
34

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
14

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Miguel de la Hoya, Omar Soukarieh, Irene López-Perolio, Ana Vega, Logan C Walker, Yvette van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, Juul Wijnen,[...]. Hum Mol Genet 2016
50
22

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
33

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco. PLoS Genet 2017
26
42


Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Mireia Menéndez, Joan Castellsagué, Marc Mirete, Eva Pros, Lídia Feliubadaló, Ana Osorio, Mónica Calaf, Eva Tornero, Jesús del Valle, Juana Fernández-Rodríguez,[...]. Breast Cancer Res Treat 2012
19
52

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
12

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
35
25

Are splicing mutations the most frequent cause of hereditary disease?
Núria López-Bigas, Benjamin Audit, Christos Ouzounis, Genís Parra, Roderic Guigó. FEBS Lett 2005
227
12

Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.
Alberto Acedo, Cristina Hernández-Moro, Álvaro Curiel-García, Beatriz Díez-Gómez, Eladio A Velasco. Hum Mutat 2015
29
31

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
119
10

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene.
Kathleen Claes, Jo Vandesompele, Bruce Poppe, Karine Dahan, Ilse Coene, Anne De Paepe, Ludwine Messiaen. Oncogene 2002
31
25

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
126
10

The emerging landscape of breast cancer susceptibility.
Michael R Stratton, Nazneen Rahman. Nat Genet 2008
325
10

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
10

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
20

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
Leila Mohammadi, Maaike P Vreeswijk, Rogier Oldenburg, Ans van den Ouweland, Jan C Oosterwijk, Annemarie H van der Hout, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Margreet G Ausems, Rob B van der Luijt,[...]. BMC Cancer 2009
44
15

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
9

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
9


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.