A citation-based method for searching scientific literature

Kara N Maxwell, Steven N Hart, Joseph Vijai, Kasmintan A Schrader, Thomas P Slavin, Tinu Thomas, Bradley Wubbenhorst, Vignesh Ravichandran, Raymond M Moore, Chunling Hu, Lucia Guidugli, Brandon Wenz, Susan M Domchek, Mark E Robson, Csilla Szabo, Susan L Neuhausen, Jeffrey N Weitzel, Kenneth Offit, Fergus J Couch, Katherine L Nathanson. Am J Hum Genet 2016
Times Cited: 68







List of co-cited articles
371 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
69

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
42

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
20

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
226
17

A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
16

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
488
16

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

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
269
16

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
482
14

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
97
13

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Steven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, Tina Pesaran, Danielle R Azzariti, Sherri Bale, Elizabeth C Chao, Soma Das, Lisa Vincent, Heidi L Rehm. Genet Med 2017
116
13

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
207
13

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
Holly LaDuca, A J Stuenkel, Jill S Dolinsky, Steven Keiles, Stephany Tandy, Tina Pesaran, Elaine Chen, Chia-Ling Gau, Erika Palmaer, Kamelia Shoaepour,[...]. Genet Med 2014
208
11

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
11

Predicting the functional effect of amino acid substitutions and indels.
Yongwook Choi, Gregory E Sims, Sean Murphy, Jason R Miller, Agnes P Chan. PLoS One 2012
11


A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients.
Stephen E Lincoln, Yuya Kobayashi, Michael J Anderson, Shan Yang, Andrea J Desmond, Meredith A Mills, Geoffrey B Nilsen, Kevin B Jacobs, Federico A Monzon, Allison W Kurian,[...]. J Mol Diagn 2015
110
11

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
Allison W Kurian, Emily E Hare, Meredith A Mills, Kerry E Kingham, Lisa McPherson, Alice S Whittemore, Valerie McGuire, Uri Ladabaum, Yuya Kobayashi, Stephen E Lincoln,[...]. J Clin Oncol 2014
303
11

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
11

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
11

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
Andrea Desmond, Allison W Kurian, Michele Gabree, Meredith A Mills, Michael J Anderson, Yuya Kobayashi, Nora Horick, Shan Yang, Kristen M Shannon, Nadine Tung,[...]. JAMA Oncol 2015
197
11

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Brian H Shirts, Mitzi L Murray, Mari J Tokita, Carlos J Gallego, Daniel Seung Kim,[...]. Genome Res 2015
215
10

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
10

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
10

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
10

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
488
10

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


Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield,[...]. Genet Med 2018
129
10

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Nadine Tung, Chiara Battelli, Brian Allen, Rajesh Kaldate, Satish Bhatnagar, Karla Bowles, Kirsten Timms, Judy E Garber, Christina Herold, Leif Ellisen,[...]. Cancer 2015
252
8

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
145
8

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
8


Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
76
8

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
799
8

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
8


Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Nadine Tung, Nancy U Lin, John Kidd, Brian A Allen, Nanda Singh, Richard J Wenstrup, Anne-Renee Hartman, Eric P Winer, Judy E Garber. J Clin Oncol 2016
240
8

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu, Peter D Stenson, David N Cooper, Jonathan A Bernstein, Gill Bejerano. Nat Genet 2016
330
8

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.
Dominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, Udo Gieraths, Daniel G MacArthur, Kaitlin E Samocha, David N Cooper, Peter D Stenson, Mark J Daly, Jordan W Smoller,[...]. Hum Mutat 2015
131
8

Variant Interpretation: Functional Assays to the Rescue.
Lea M Starita, Nadav Ahituv, Maitreya J Dunham, Jacob O Kitzman, Frederick P Roth, Georg Seelig, Jay Shendure, Douglas M Fowler. Am J Hum Genet 2017
112
8

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
7

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
7

Saturation editing of genomic regions by multiplex homology-directed repair.
Gregory M Findlay, Evan A Boyle, Ronald J Hause, Jason C Klein, Jay Shendure. Nature 2014
180
7

dbSNP: the NCBI database of genetic variation.
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
7

Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
Paris J Vail, Brian Morris, Aric van Kan, Brianna C Burdett, Kelsey Moyes, Aaron Theisen, Iain D Kerr, Richard J Wenstrup, Julie M Eggington. J Community Genet 2015
32
15

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants.
Jeffrey Kleinberger, Kristin A Maloney, Toni I Pollin, Linda Jo Bone Jeng. Genet Med 2016
62
8

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
Melanie G Pepin, Mitzi L Murray, Samuel Bailey, Dru Leistritz-Kessler, Ulrike Schwarze, Peter H Byers. Genet Med 2016
39
12


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
472
7


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.