A citation-based method for searching scientific literature

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, Fergus J Couch, David E Goldgar. Hum Mutat 2012
Times Cited: 177







List of co-cited articles
696 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
49

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
525
38

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
725
29

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
22

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
305
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
272
19

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
108
19

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

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
208
18

ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
16

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
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
133
16

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
55
29

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
Sergey G Kuznetsov, Pentao Liu, Shyam K Sharan. Nat Med 2008
89
16

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
70
18

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
63
20

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
38
34

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
100
13

ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
469
12

Gene-panel sequencing and the prediction of breast-cancer risk.
Douglas F Easton, Paul D P Pharoah, Antonis C Antoniou, Marc Tischkowitz, Sean V Tavtigian, Katherine L Nathanson, Peter Devilee, Alfons Meindl, Fergus J Couch, Melissa Southey,[...]. N Engl J Med 2015
472
12

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
37
32

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T den Dunnen,[...]. Nat Genet 2014
289
11

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
11

The breast cancer information core: database design, structure, and scope.
C Szabo, A Masiello, J F Ryan, L C Brody. Hum Mutat 2000
133
11

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.
Sandrine Caputo, Louisa Benboudjema, Olga Sinilnikova, Etienne Rouleau, Christophe Béroud, Rosette Lidereau. Nucleic Acids Res 2012
55
20

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
47
23

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
10

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
10

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
483
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

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
11

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
137
10

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
129
10

Breast-cancer risk in families with mutations in PALB2.
Antonis C Antoniou, Silvia Casadei, Tuomas Heikkinen, Daniel Barrowdale, Katri Pylkäs, Jonathan Roberts, Andrew Lee, Deepak Subramanian, Kim De Leeneer, Florentia Fostira,[...]. N Engl J Med 2014
462
10

LOVD v.2.0: the next generation in gene variant databases.
Ivo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, J Celli, Jeroen F J Laros, Johan T den Dunnen. Hum Mutat 2011
540
9

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
465
9

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
36
25

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
100
9


BRCA Share: A Collection of Clinical BRCA Gene Variants.
Christophe Béroud, Stanley I Letovsky, Corey D Braastad, Sandrine M Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M Buell, Gwenaëlle Collod-Béroud,[...]. Hum Mutat 2016
34
26

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
35
25

Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation.
Mark Robson, Seock-Ah Im, Elżbieta Senkus, Binghe Xu, Susan M Domchek, Norikazu Masuda, Suzette Delaloge, Wei Li, Nadine Tung, Anne Armstrong,[...]. N Engl J Med 2017
947
9

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
63
12

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
Judith Balmaña, Laura Digiovanni, Pragna Gaddam, Michael F Walsh, Vijai Joseph, Zsofia K Stadler, Katherine L Nathanson, Judy E Garber, Fergus J Couch, Kenneth Offit,[...]. J Clin Oncol 2016
95
8


BRCA1 and BRCA2: different roles in a common pathway of genome protection.
Rohini Roy, Jarin Chun, Simon N Powell. Nat Rev Cancer 2011
663
8

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
31
25

BRCA2 is required for homology-directed repair of chromosomal breaks.
M E Moynahan, A J Pierce, M Jasin. Mol Cell 2001
681
8

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
Fergus J Couch, Hermela Shimelis, Chunling Hu, Steven N Hart, Eric C Polley, Jie Na, Emily Hallberg, Raymond Moore, Abigail Thomas, Jenna Lilyquist,[...]. JAMA Oncol 2017
259
8



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.