A citation-based method for searching scientific literature

David E Goldgar, Douglas F Easton, Graham B Byrnes, Amanda B Spurdle, Edwin S Iversen, Marc S Greenblatt. Hum Mutat 2008
Times Cited: 131







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



Times Cited
  Times     Co-cited
Similarity


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
542
66

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
48

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
45

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
139
32


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
25

Assessment of functional effects of unclassified genetic variants.
Fergus J Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N A Monteiro, Marc S Greenblatt, Niels de Wind. Hum Mutat 2008
80
26

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
181
21

A full-likelihood method for the evaluation of causality of sequence variants from family data.
Deborah Thompson, Douglas F Easton, David E Goldgar. Am J Hum Genet 2003
87
22

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
23

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
473
17

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Georgia Chenevix-Trench, Sue Healey, Sunil Lakhani, Paul Waring, Margaret Cummings, Ross Brinkworth, Amie M Deffenbaugh, Lynn Anne Burbidge, Dmitry Pruss, Thad Judkins,[...]. Cancer Res 2006
131
17

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
Leila Mohammadi, Maaike P Vreeswijk, Rogier Oldenburg, Ans van den Ouweland, Jan C Oosterwijk, Annemarie H van der Hout, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Margreet G Ausems, Rob B van der Luijt,[...]. BMC Cancer 2009
44
36

Prediction and assessment of splicing alterations: implications for clinical testing.
Amanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, Paolo Radice, Olga M Sinilnikova. Hum Mutat 2008
90
16

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
144
14


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
15

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
14

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.
Sean V Tavtigian, Marc S Greenblatt, David E Goldgar, Paolo Boffetta. Hum Mutat 2008
56
23

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

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
34

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Bryony A Thompson, Marc S Greenblatt, Maxime P Vallee, Johanna C Herkert, Chloe Tessereau, Erin L Young, Ivan A Adzhubey, Biao Li, Russell Bell, Bingjian Feng,[...]. Hum Mutat 2013
59
22

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.
Amanda B Spurdle, Sunil R Lakhani, Sue Healey, Suzanne Parry, Leonard M Da Silva, Ross Brinkworth, John L Hopper, Melissa A Brown, Davit Babikyan, Georgia Chenevix-Trench,[...]. J Clin Oncol 2008
61
19

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
12

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
C Sue Richards, Sherri Bale, Daniel B Bellissimo, Soma Das, Wayne W Grody, Madhuri R Hegde, Elaine Lyon, Brian E Ward. Genet Med 2008
517
12

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
12

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
22

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Bryony A Thompson, David E Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T Parsons, Walsh Michael D, Steven Gallinger, Robert W Haile,[...]. Hum Mutat 2013
63
19

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
15

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Paul K Lovelock, Amanda B Spurdle, Myth T S Mok, Daniel J Farrugia, Sunil R Lakhani, Sue Healey, Stephen Arnold, Daniel Buchanan, Fergus J Couch, Beric R Henderson,[...]. Breast Cancer Res 2007
48
22

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Logan C Walker, Phillip J Whiley, Fergus J Couch, Daniel J Farrugia, Sue Healey, Diana M Eccles, Feng Lin, Samantha A Butler, Sheila A Goff, Bryony A Thompson,[...]. Hum Mutat 2010
46
23

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.
Encarna B Gómez García, Jan C Oosterwijk, Maarten Timmermans, Christi J van Asperen, Frans B L Hogervorst, Nicoline Hoogerbrugge, Rogier Oldenburg, Senno Verhoef, Charlotte J Dommering, Margreet G E M Ausems,[...]. Breast Cancer Res 2009
41
26

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
Andrew D Spearman, Kevin Sweet, Xiao-Ping Zhou, Jane McLennan, Fergus J Couch, Amanda Ewart Toland. J Clin Oncol 2008
62
17

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
16

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
56
19

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Marcelo A Carvalho, Sylvia M Marsillac, Rachel Karchin, Siranoush Manoukian, Scott Grist, Ramona F Swaby, Turan P Urmenyi, Edson Rondinelli, Rosane Silva, Luis Gayol,[...]. Cancer Res 2007
91
10

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Tiina E Raevaara, Mari K Korhonen, Hannes Lohi, Heather Hampel, Elly Lynch, Karin E Lönnqvist, Elke Holinski-Feder, Christian Sutter, Wendy McKinnon, Sekhar Duraisamy,[...]. Gastroenterology 2005
146
10

A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Mark Drost, Jos e B M Zonneveld, Linda van Dijk, Hans Morreau, Carli M Tops, Hans F A Vasen, Juul T Wijnen, Niels de Wind. Hum Mutat 2010
44
22

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.
Robert M W Hofstra, Amanda B Spurdle, Diana Eccles, William D Foulkes, Niels de Wind, Nicoline Hoogerbrugge, Frans B L Hogervorst. Hum Mutat 2008
39
25

Biallelic inactivation of BRCA2 in Fanconi anemia.
Niall G Howlett, Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine De Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals,[...]. Science 2002
848
10

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.
J Vallon-Christersson, C Cayanan, K Haraldsson, N Loman, J T Bergthorsson, K Brøndum-Nielsen, A M Gerdes, P Møller, U Kristoffersson, H Olsson,[...]. Hum Mol Genet 2001
131
10

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

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.
Lene Juel Rasmussen, Christopher D Heinen, Brigitte Royer-Pokora, Mark Drost, Sean Tavtigian, Robert M W Hofstra, Niels de Wind. Hum Mutat 2012
50
20

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
14

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
10

Classification of BRCA1 missense variants of unknown clinical significance.
C M Phelan, V Dapic, B Tice, R Favis, E Kwan, F Barany, S Manoukian, P Radice, R B van der Luijt, B P M van Nesselrooij,[...]. J Med Genet 2005
75
12

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Rebecca A Barnetson, Nicola Cartwright, Annelot van Vliet, Naila Haq, Kate Drew, Susan Farrington, Nicola Williams, Jon Warner, Harry Campbell, Mary E Porteous,[...]. Hum Mutat 2008
61
14


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
76
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
101
9


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.