A citation-based method for searching scientific literature

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
Times Cited: 77







List of co-cited articles
436 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
148
37


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
32

Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
29

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
29

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
29

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
127
28

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

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
92
25

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
554
24

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
74
25

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
313
23

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
22

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
275
20


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
19

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
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
89
16

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
16

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
28


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
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
26

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
30
36

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
28

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
12

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
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
183
12

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
11

Automated splicing mutation analysis by information theory.
Vijay K Nalla, Peter K Rogan. Hum Mutat 2005
133
11

Predictive identification of exonic splicing enhancers in human genes.
William G Fairbrother, Ru-Fang Yeh, Phillip A Sharp, Christopher B Burge. Science 2002
795
11


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
19

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
142
11

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
10


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
475
10

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
10

GeneSplicer: a new computational method for splice site prediction.
M Pertea, X Lin, S L Salzberg. Nucleic Acids Res 2001
320
10

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
33
24

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
42

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
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
16

In silico prediction of splice-altering single nucleotide variants in the human genome.
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
198
10

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
Michael Krawczak, Nick S T Thomas, Bernd Hundrieser, Matthew Mort, Michael Wittig, Jochen Hampe, David N Cooper. Hum Mutat 2007
248
9

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Orland Díez, Ana Osorio, Mercedes Durán, José Ignacio Martinez-Ferrandis, Miguel de la Hoya, Raquel Salazar, Ana Vega, Berta Campos, Raquel Rodríguez-López, Eladio Velasco,[...]. Hum Mutat 2003
133
9

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
20

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
24

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
Rachel Karchin, Mukesh Agarwal, Andrej Sali, Fergus Couch, Mary S Beattie. Cancer Inform 2008
37
18

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.
Pascaline Gaildrat, Audrey Killian, Alexandra Martins, Isabelle Tournier, Thierry Frébourg, Mario Tosi. Methods Mol Biol 2010
85
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.