A citation-based method for searching scientific literature

Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri, Caterina Lo Rizzo, Lorenza Catania, Elisa Frullanti, Enrico Tagliafico, Laura Cortesi, Federica Spaggiari, Maria Antonietta Mencarelli, Eva Trevisson, Paolo Radice, Alessandra Renieri, Francesca Ariani. Cancers (Basel) 2019
Times Cited: 13







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



Times Cited
  Times     Co-cited
Similarity


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
46

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
38

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
30

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
30

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Rita D Brandão, Klaas Mensaert, Irene López-Perolio, Demis Tserpelis, Markos Xenakis, Vanessa Lattimore, Logan C Walker, Anders Kvist, Ana Vega, Sara Gutiérrez-Enríquez,[...]. Int J Cancer 2019
13
30

The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.
Yifan Wang, Andrea J Bernhardy, Cristina Cruz, John J Krais, Joseph Nacson, Emmanuelle Nicolas, Suraj Peri, Hanneke van der Gulden, Ingrid van der Heijden, Shane W O'Brien,[...]. Cancer Res 2016
118
30

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo,[...]. Hum Mutat 2018
119
23

A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Peter Bouwman, Hanneke van der Gulden, Ingrid van der Heijden, Rinske Drost, Christiaan N Klijn, Pramudita Prasetyanti, Mark Pieterse, Ellen Wientjens, Jost Seibler, Frans B L Hogervorst,[...]. Cancer Discov 2013
82
23

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.
Teresia Wangensteen, Caroline Nangota Felde, Deeqa Ahmed, Lovise Mæhle, Sarah Louise Ariansen. Hered Cancer Clin Pract 2019
5
60

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
23

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
23

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
23

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
242
23

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
23

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
23

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Elisa Goina, Alberto Acedo, Emanuele Buratti, Eladio A Velasco. J Pathol 2019
12
25

RNA mis-splicing in disease.
Marina M Scotti, Maurice S Swanson. Nat Rev Genet 2016
479
23

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
156
23

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
23

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale,[...]. Breast Cancer Res 2016
24
15

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Corinna Ernst, Eric Hahnen, Christoph Engel, Michael Nothnagel, Jonas Weber, Rita K Schmutzler, Jan Hauke. BMC Med Genomics 2018
37
15

A guide for functional analysis of BRCA1 variants of uncertain significance.
Gaël A Millot, Marcelo A Carvalho, Sandrine M Caputo, Maaike P G Vreeswijk, Melissa A Brown, Michelle Webb, Etienne Rouleau, Susan L Neuhausen, Thomas v O Hansen, Alvaro Galli,[...]. Hum Mutat 2012
86
15

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
145
15

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Setareh Moghadasi, Huong D Meeks, Maaike Pg Vreeswijk, Linda Am Janssen, Åke Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig,[...]. J Med Genet 2018
27
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
15

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
15

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

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
Derek J R Ransburgh, Natsuko Chiba, Chikashi Ishioka, Amanda Ewart Toland, Jeffrey D Parvin. Cancer Res 2010
85
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
15

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
15

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
15

Patterns and functional implications of rare germline variants across 12 cancer types.
Charles Lu, Mingchao Xie, Michael C Wendl, Jiayin Wang, Michael D McLellan, Mark D M Leiserson, Kuan-Lin Huang, Matthew A Wyczalkowski, Reyka Jayasinghe, Tapahsama Banerjee,[...]. Nat Commun 2015
139
15

PALB2 is an integral component of the BRCA complex required for homologous recombination repair.
Shirley M H Sy, Michael S Y Huen, Junjie Chen. Proc Natl Acad Sci U S A 2009
350
15

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
15

Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.
Rachel W Anantha, Srilatha Simhadri, Tzeh Keong Foo, Susanna Miao, Jingmei Liu, Zhiyuan Shen, Shridar Ganesan, Bing Xia. Elife 2017
47
15

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci,[...]. Hum Mutat 2019
45
15

A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function.
Lea M Starita, Muhtadi M Islam, Tapahsama Banerjee, Aleksandra I Adamovich, Justin Gullingsrud, Stanley Fields, Jay Shendure, Jeffrey D Parvin. Am J Hum Genet 2018
56
15

53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers.
Peter Bouwman, Amal Aly, Jose M Escandell, Mark Pieterse, Jirina Bartkova, Hanneke van der Gulden, Sanne Hiddingh, Maria Thanasoula, Atul Kulkarni, Qifeng Yang,[...]. Nat Struct Mol Biol 2010
640
15

A day in the life of the spliceosome.
A Gregory Matera, Zefeng Wang. Nat Rev Mol Cell Biol 2014
515
15



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
15

The Functional Impact of Alternative Splicing in Cancer.
Héctor Climente-González, Eduard Porta-Pardo, Adam Godzik, Eduardo Eyras. Cell Rep 2017
233
15

The nuclear-retained noncoding RNA MALAT1 regulates alternative splicing by modulating SR splicing factor phosphorylation.
Vidisha Tripathi, Jonathan D Ellis, Zhen Shen, David Y Song, Qun Pan, Andrew T Watt, Susan M Freier, C Frank Bennett, Alok Sharma, Paula A Bubulya,[...]. Mol Cell 2010
15

Alternative Splicing May Not Be the Key to Proteome Complexity.
Michael L Tress, Federico Abascal, Alfonso Valencia. Trends Biochem Sci 2017
138
15

Analysis and design of RNA sequencing experiments for identifying isoform regulation.
Yarden Katz, Eric T Wang, Edoardo M Airoldi, Christopher B Burge. Nat Methods 2010
821
15

TCGASpliceSeq a compendium of alternative mRNA splicing in cancer.
Michael Ryan, Wing Chung Wong, Robert Brown, Rehan Akbani, Xiaoping Su, Bradley Broom, James Melott, John Weinstein. Nucleic Acids Res 2016
162
15

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
15

Inherited Mutations in Women With Ovarian Carcinoma.
Barbara M Norquist, Maria I Harrell, Mark F Brady, Tom Walsh, Ming K Lee, Suleyman Gulsuner, Sarah S Bernards, Silvia Casadei, Qian Yi, Robert A Burger,[...]. JAMA Oncol 2016
353
15

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
15


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.