A citation-based method for searching scientific literature

Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmaña, Elena Barbieri, Claus R Bartram, Ana Blanco, Britta Blümcke, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A Caligo, Mariarosaria Calvello, Gabriele L Capone, Sandrine M Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux-Moncoutier, Pietro Cavalli, Giulia Cini, Edward M Clarke, Paola Concolino, Elisa J Cops, Laura Cortesi, Fergus J Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Irmgard Debatin, Jesús Del Valle, Capucine Delnatte, Nicolas Derive, Orland Diez, Nina Ditsch, Susan M Domchek, Véronique Dutrannoy, Diana M Eccles, Hans Ehrencrona, Ute Enders, D Gareth Evans, Chantal Farra, Ulrike Faust, Ute Felbor, Irene Feroce, Miriam Fine, William D Foulkes, Henrique C R Galvao, Gaetana Gambino, Andrea Gehrig, Francesca Gensini, Anne-Marie Gerdes, Aldo Germani, Jutta Giesecke, Viviana Gismondi, Carolina Gómez, Encarna B Gómez Garcia, Sara González, Elia Grau, Sabine Grill, Eva Gross, Aliana Guerrieri-Gonzaga, Marine Guillaud-Bataille, Sara Gutiérrez-Enríquez, Thomas Haaf, Karl Hackmann, Thomas V O Hansen, Marion Harris, Jan Hauke, Tilman Heinrich, Heide Hellebrand, Karen N Herold, Ellen Honisch, Judit Horvath, Claude Houdayer, Verena Hübbel, Silvia Iglesias, Angel Izquierdo, Paul A James, Linda A M Janssen, Udo Jeschke, Silke Kaulfuß, Katharina Keupp, Marion Kiechle, Alexandra Kölbl, Sophie Krieger, Torben A Kruse, Anders Kvist, Fiona Lalloo, Mirjam Larsen, Vanessa L Lattimore, Charlotte Lautrup, Susanne Ledig, Elena Leinert, Alexandra L Lewis, Joanna Lim, Markus Loeffler, Adrià López-Fernández, Emanuela Lucci-Cordisco, Nicolai Maass, Siranoush Manoukian, Monica Marabelli, Laura Matricardi, Alfons Meindl, Rodrigo D Michelli, Setareh Moghadasi, Alejandro Moles-Fernández, Marco Montagna, Gemma Montalban, Alvaro N Monteiro, Eva Montes, Luigi Mori, Lidia Moserle, Clemens R Müller, Christoph Mundhenke, Nadia Naldi, Katherine L Nathanson, Matilde Navarro, Heli Nevanlinna, Cassandra B Nichols, Dieter Niederacher, Henriette R Nielsen, Kai-Ren Ong, Nicholas Pachter, Edenir I Palmero, Laura Papi, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez-Segura, Katharina Pfeifer, Marta Pineda, Esther Pohl-Rescigno, Nicola K Poplawski, Berardino Porfirio, Anne S Quante, Juliane Ramser, Rui M Reis, Françoise Revillion, Kerstin Rhiem, Barbara Riboli, Julia Ritter, Daniela Rivera, Paula Rofes, Andreas Rump, Monica Salinas, Ana María Sánchez de Abajo, Gunnar Schmidt, Ulrike Schoenwiese, Jochen Seggewiß, Ares Solanes, Doris Steinemann, Mathias Stiller, Dominique Stoppa-Lyonnet, Kelly J Sullivan, Rachel Susman, Christian Sutter, Sean V Tavtigian, Soo H Teo, Alex Teulé, Mads Thomassen, Maria Grazia Tibiletti, Marc Tischkowitz, Silvia Tognazzo, Amanda E Toland, Eva Tornero, Therese Törngren, Sara Torres-Esquius, Angela Toss, Alison H Trainer, Katherine M Tucker, Christi J van Asperen, Marion T van Mackelenbergh, Liliana Varesco, Gardenia Vargas-Parra, Raymonda Varon, Ana Vega, Ángela Velasco, Anne-Sophie Vesper, Alessandra Viel, Maaike P G Vreeswijk, Sebastian A Wagner, Anke Waha, Logan C Walker, Rhiannon J Walters, Shan Wang-Gohrke, Bernhard H F Weber, Wilko Weichert, Kerstin Wieland, Lisa Wiesmüller, Isabell Witzel, Achim Wöckel, Emma R Woodward, Silke Zachariae, Valentina Zampiga, Christine Zeder-Göß, Conxi Lázaro, Arcangela De Nicolo, Paolo Radice, Christoph Engel, Rita K Schmutzler, David E Goldgar, Amanda B Spurdle. Hum Mutat 2019
Times Cited: 45







List of co-cited articles
348 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
66

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
48

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
233
40

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
37

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
828
33

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
31

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
119
31

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
28

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
28

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin,[...]. PLoS Genet 2018
67
28

Functional assays for analysis of variants of uncertain significance in BRCA2.
Lucia Guidugli, Aura Carreira, Sandrine M Caputo, Asa Ehlen, Alvaro Galli, Alvaro N A Monteiro, Susan L Neuhausen, Thomas V O Hansen, Fergus J Couch, Maaike P G Vreeswijk. Hum Mutat 2014
69
26

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
30

The functional impact of variants of uncertain significance in BRCA2.
Romy L S Mesman, Fabienne M G R Calléja, Giel Hendriks, Bruno Morolli, Branislav Misovic, Peter Devilee, Christi J van Asperen, Harry Vrieling, Maaike P G Vreeswijk. Genet Med 2019
30
36

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Lucia Guidugli, Hermela Shimelis, David L Masica, Vernon S Pankratz, Gary B Lipton, Namit Singh, Chunling Hu, Alvaro N A Monteiro, Noralane M Lindor, David E Goldgar,[...]. Am J Hum Genet 2018
36
30

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
22

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
53
20

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
Sergey G Kuznetsov, Pentao Liu, Shyam K Sharan. Nat Med 2008
92
20


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
85
17

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
539
17

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
17

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
17

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, Garry R Cutting, Marc S Greenblatt, Christopher D Heinen, Dona M Kanavy, Xi Luo, Shannon M McNulty, Lea M Starita,[...]. Genome Med 2019
75
17

BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.
Haijuan Yang, Philip D Jeffrey, Julie Miller, Elspeth Kinnucan, Yutong Sun, Nicolas H Thoma, Ning Zheng, Phang-Lang Chen, Wen-Hwa Lee, Nikola P Pavletich. Science 2002
496
15

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
Lea M Starita, David L Young, Muhtadi Islam, Jacob O Kitzman, Justin Gullingsrud, Ronald J Hause, Douglas M Fowler, Jeffrey D Parvin, Jay Shendure, Stanley Fields. Genetics 2015
148
15

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
79
15

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Steven N Hart, Tanya Hoskin, Hermela Shimelis, Raymond M Moore, Bingjian Feng, Abigail Thomas, Noralane M Lindor, Eric C Polley, David E Goldgar, Edwin Iversen,[...]. Genet Med 2019
24
29


BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Hermela Shimelis, Romy L S Mesman, Catharina Von Nicolai, Asa Ehlen, Lucia Guidugli, Charlotte Martin, Fabienne M G R Calléja, Huong Meeks, Emily Hallberg, Jamie Hinton,[...]. Cancer Res 2017
38
18

High-throughput functional evaluation of BRCA2 variants of unknown significance.
Masachika Ikegami, Shinji Kohsaka, Toshihide Ueno, Yukihide Momozawa, Satoshi Inoue, Kenji Tamura, Akihiko Shimomura, Noriko Hosoya, Hiroshi Kobayashi, Sakae Tanaka,[...]. Nat Commun 2020
13
53

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
17

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
13

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
115
13

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.
Kangjian Wu, Shannon R Hinson, Akihiro Ohashi, Daniel Farrugia, Patricia Wendt, Sean V Tavtigian, Amie Deffenbaugh, David Goldgar, Fergus J Couch. Cancer Res 2005
102
13

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
Vanessa C Fernandes, Volha A Golubeva, Giuliano Di Pietro, Cara Shields, Kwabena Amankwah, Thales C Nepomuceno, Giuliana de Gregoriis, Renata B V Abreu, Carly Harro, Thiago T Gomes,[...]. J Biol Chem 2019
14
42

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
Ambre Petitalot, Elodie Dardillac, Eric Jacquet, Naima Nhiri, Josée Guirouilh-Barbat, Patrick Julien, Isslam Bouazzaoui, Dorine Bonte, Jean Feunteun, Jeff A Schnell,[...]. Mol Cancer Res 2019
9
66

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
13

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Amanda B Spurdle, Fergus J Couch, Michael T Parsons, Lesley McGuffog, Daniel Barrowdale, Manjeet K Bolla, Qin Wang, Sue Healey, Rita Schmutzler, Barbara Wappenschmidt,[...]. Breast Cancer Res 2014
58
13

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
13

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Ankita Jhuraney, Aneliya Velkova, Randall C Johnson, Bailey Kessing, Renato S Carvalho, Phillip Whiley, Amanda B Spurdle, Maaike P G Vreeswijk, Sandrine M Caputo, Gael A Millot,[...]. J Med Genet 2015
27
22

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook,[...]. Genet Med 2017
230
13

In silico analysis of missense substitutions using sequence-alignment based methods.
Sean V Tavtigian, Marc S Greenblatt, Fabienne Lesueur, Graham B Byrnes. Hum Mutat 2008
145
13

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
28
21

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Amanda B Spurdle, Phillip J Whiley, Bryony Thompson, Bingjian Feng, Sue Healey, Melissa A Brown, Christopher Pettigrew, Christi J Van Asperen, Margreet G E M Ausems, Anna A Kattentidt-Mouravieva,[...]. J Med Genet 2012
67
13

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
13

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Laëtitia Meulemans, Romy L S Mesman, Sandrine M Caputo, Sophie Krieger, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Mélanie Léone, Nadia Boutry-Kryza, Johanna Sokolowska, Françoise Révillion,[...]. Cancer Res 2020
10
60

VarSome: the human genomic variant search engine.
Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, Andreas Massouras. Bioinformatics 2019
387
13

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
Kajal Biswas, Ranabir Das, Julie M Eggington, Huanyu Qiao, Susan L North, Stacey Stauffer, Sandra S Burkett, Betty K Martin, Eileen Southon, Scott C Sizemore,[...]. Hum Mol Genet 2012
40
15

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
Pierre Thouvenot, Barbara Ben Yamin, Lou Fourrière, Aurianne Lescure, Thomas Boudier, Elaine Del Nery, Anne Chauchereau, David E Goldgar, Claude Houdayer, Dominique Stoppa-Lyonnet,[...]. PLoS Genet 2016
16
31

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
11


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.