A citation-based method for searching scientific literature

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
Times Cited: 137







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



Times Cited
  Times     Co-cited
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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
536
53

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
42

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
309
39

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
274
37

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
179
27

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
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
21


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
84
22

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
78
23

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
19

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
66
25

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
16

BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.
Noralane M Lindor, David E Goldgar, Sean V Tavtigian, Sharon E Plon, Fergus J Couch. Oncologist 2013
57
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
65
24

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
16

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
141
16

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
109
16

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.
J M Eggington, K R Bowles, K Moyes, S Manley, L Esterling, S Sizemore, E Rosenthal, A Theisen, J Saam, C Arnell,[...]. Clin Genet 2014
114
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

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
760
14

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
211
14

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
143
13

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
13

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Nicholas T Woods, Rebekah Baskin, Volha Golubeva, Ankita Jhuraney, Giuliana De-Gregoriis, Tereza Vaclova, David E Goldgar, Fergus J Couch, Marcelo Alex Carvalho, Edwin S Iversen,[...]. NPJ Genom Med 2016
39
33

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
Edwin S Iversen, Fergus J Couch, David E Goldgar, Sean V Tavtigian, Alvaro N A Monteiro. Cancer Epidemiol Biomarkers Prev 2011
38
31

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
12

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
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
480
12

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
524
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
40
30

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
Nasim Mavaddat, Susan Peock, Debra Frost, Steve Ellis, Radka Platte, Elena Fineberg, D Gareth Evans, Louise Izatt, Rosalind A Eeles, Julian Adlard,[...]. J Natl Cancer Inst 2013
478
11

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
472
11

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
55
20

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
292
11

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
11

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
39
28

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.
Thomas S Frank, Amie M Deffenbaugh, Julia E Reid, Mark Hulick, Brian E Ward, Beth Lingenfelter, Kathi L Gumpper, Thomas Scholl, Sean V Tavtigian, Dmitry R Pruss,[...]. J Clin Oncol 2002
625
10

Meta-analysis of BRCA1 and BRCA2 penetrance.
Sining Chen, Giovanni Parmigiani. J Clin Oncol 2007
10

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
Maxime P Vallée, Tiana C Francy, Megan K Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E Goldgar, Fergus J Couch, Sean V Tavtigian. Hum Mutat 2012
53
18

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
21

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
37
24

Guidelines for investigating causality of sequence variants in human disease.
D G MacArthur, T A Manolio, D P Dimmock, H L Rehm, J Shendure, G R Abecasis, D R Adams, R B Altman, S E Antonarakis, E A Ashley,[...]. Nature 2014
765
9

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
9

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
26
34

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
Sergey G Kuznetsov, Pentao Liu, Shyam K Sharan. Nat Med 2008
90
10

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

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
32
28

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
103
9

BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface.
A J Lee, A P Cunningham, K B Kuchenbaecker, N Mavaddat, D F Easton, A C Antoniou. Br J Cancer 2014
129
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.