A citation-based method for searching scientific literature

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, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C Walker, Irene López-Perolio, Mads Thomassen, Michael Parsons, Phillip Whiley, Marinus J Blok, Rita D Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez-Enríquez, Orland Díez, Conxi Lazaro, Amanda B Spurdle, Paolo Radice, Miguel de la Hoya. J Med Genet 2016
Times Cited: 33







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



Times Cited
  Times     Co-cited
Similarity


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
57
57

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
51
45

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
150
42

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
39

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
39

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
33

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova,[...]. Eur J Hum Genet 2017
25
44

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
30

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
94
30

Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
30

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
30
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
27
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
27

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Maxime P Vallée, Tonya L Di Sera, David A Nix, Andrew M Paquette, Michael T Parsons, Russel Bell, Andrea Hoffman, Frans B L Hogervorst, David E Goldgar, Amanda B Spurdle,[...]. Hum Mutat 2016
40
27

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
D M Eccles, G Mitchell, A N A Monteiro, R Schmutzler, F J Couch, A B Spurdle, E B Gómez-García. Ann Oncol 2015
112
24

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Mara Colombo, Irene Lòpez-Perolio, Huong D Meeks, Laura Caleca, Michael T Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini,[...]. Hum Mutat 2018
13
61

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
39
24

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.
Bing Xia, Qing Sheng, Koji Nakanishi, Akihiro Ohashi, Jianmin Wu, Nicole Christ, Xinggang Liu, Maria Jasin, Fergus J Couch, David M Livingston. Mol Cell 2006
545
21

BRCA1 and BRCA2: different roles in a common pathway of genome protection.
Rohini Roy, Jarin Chun, Simon N Powell. Nat Rev Cancer 2011
726
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
78
21

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
188
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
21

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.
Gorka Ruiz de Garibay, Alberto Acedo, Zaida García-Casado, Sara Gutiérrez-Enríquez, Alicia Tosar, Atocha Romero, Pilar Garre, Gemma Llort, Mads Thomassen, Orland Díez,[...]. Hum Mutat 2014
16
43

Hereditary breast and ovarian cancer: new genes in confined pathways.
Finn Cilius Nielsen, Thomas van Overeem Hansen, Claus Storgaard Sørensen. Nat Rev Cancer 2016
186
21

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


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
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
45
21

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
18

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
18

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
38
18

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
18

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.
Danièle Muller, Etienne Rouleau, Inès Schultz, Sandrine Caputo, Cédrick Lefol, Ivan Bièche, Olivier Caron, Catherine Noguès, Jean Marc Limacher, Liliane Demange,[...]. BMC Med Genet 2011
18
33

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
20

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

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
867
18

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
15

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Kajal Biswas, Ranabir Das, Blanche P Alter, Sergey G Kuznetsov, Stacey Stauffer, Susan L North, Sandra Burkett, Lawrence C Brody, Stefan Meyer, R Andrew Byrd,[...]. Blood 2011
35
15

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
560
15

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
Sergey G Kuznetsov, Pentao Liu, Shyam K Sharan. Nat Med 2008
92
15

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Beatriz Lara, Maria Teresa Martínez, Ignacio Blanco, Cristina Hernández-Moro, Eladio A Velasco, Ilaria Ferrarotti, Francisco Rodriguez-Frias, Laura Perez, Irene Vazquez, Javier Alonso,[...]. Respir Res 2014
25
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
15

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert-Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins. PLoS Genet 2016
94
15

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
15

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López-Perolio, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco,[...]. Front Genet 2018
29
17

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Sandrine M Caputo, Mélanie Léone, Francesca Damiola, Asa Ehlen, Aura Carreira, Pascaline Gaidrat, Alexandra Martins, Rita D Brandão, Ana Peixoto, Ana Vega,[...]. Oncotarget 2018
14
35

Structural basis for recruitment of BRCA2 by PALB2.
Antony W Oliver, Sally Swift, Christopher J Lord, Alan Ashworth, Laurence H Pearl. EMBO Rep 2009
117
12

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

Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Chey Loveday, Clare Turnbull, Emma Ramsay, Deborah Hughes, Elise Ruark, Jessica R Frankum, Georgina Bowden, Bolot Kalmyrzaev, Margaret Warren-Perry, Katie Snape,[...]. Nat Genet 2011
320
12

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Honglin Song, Ed Dicks, Susan J Ramus, Jonathan P Tyrer, Maria P Intermaggio, Jane Hayward, Christopher K Edlund, David Conti, Patricia Harrington, Lindsay Fraser,[...]. J Clin Oncol 2015
168
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.