A citation-based method for searching scientific literature

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, James T Bennett, David R Crosslin, Jane Ranchalis, Kelly L Jones, Elisabeth A Rosenthal, Ella R Jarvik, Andy Itsara, Emily H Turner, Daniel S Herman, Jennifer Schleit, Amber Burt, Seema M Jamal, Jenica L Abrudan, Andrew D Johnson, Laura K Conlin, Matthew C Dulik, Avni Santani, Danielle R Metterville, Melissa Kelly, Ann Katherine M Foreman, Kristy Lee, Kent D Taylor, Xiuqing Guo, Kristy Crooks, Lesli A Kiedrowski, Leslie J Raffel, Ora Gordon, Kalotina Machini, Robert J Desnick, Leslie G Biesecker, Steven A Lubitz, Surabhi Mulchandani, Greg M Cooper, Steven Joffe, C Sue Richards, Yaoping Yang, Jerome I Rotter, Stephen S Rich, Christopher J O'Donnell, Jonathan S Berg, Nancy B Spinner, James P Evans, Stephanie M Fullerton, Kathleen A Leppig, Robin L Bennett, Thomas Bird, Virginia P Sybert, William M Grady, Holly K Tabor, Jerry H Kim, Michael J Bamshad, Benjamin Wilfond, Arno G Motulsky, C Ronald Scott, Colin C Pritchard, Tom D Walsh, Wylie Burke, Wendy H Raskind, Peter Byers, Fuki M Hisama, Heidi Rehm, Debbie A Nickerson, Gail P Jarvik. Genome Res 2015
Times Cited: 211







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



Times Cited
  Times     Co-cited
Similarity


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
761
52

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
50

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
37

Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Michael O Dorschner, Laura M Amendola, Emily H Turner, Peggy D Robertson, Brian H Shirts, Carlos J Gallego, Robin L Bennett, Kelly L Jones, Mari J Tokita, James T Bennett,[...]. Am J Hum Genet 2013
266
32

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
19

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone,[...]. PLoS One 2015
47
38

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui,[...]. Science 2016
244
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
469
15

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
14

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
772
14

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
13

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
219
11

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
11

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Pradeep Natarajan, Nina B Gold, Alexander G Bick, Heather McLaughlin, Peter Kraft, Heidi L Rehm, Gina M Peloso, James G Wilson, Adolfo Correa, Jonathan G Seidman,[...]. Sci Transl Med 2016
35
28

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
10

Genetic Misdiagnoses and the Potential for Health Disparities.
Arjun K Manrai, Birgit H Funke, Heidi L Rehm, Morten S Olesen, Bradley A Maron, Peter Szolovits, David M Margulies, Joseph Loscalzo, Isaac S Kohane. N Engl J Med 2016
291
10

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
111
10

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti,[...]. Ann Intern Med 2017
96
10

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K C Yuen, Michael J Szego,[...]. NPJ Genom Med 2016
160
9

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Jessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, Adam Buchanan, Brian Jensen, Kristy Lee, Christa Lese Martin, Laura Milko, Kristin Muessig, Annie D Niehaus,[...]. Genet Med 2016
53
16

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Marci L B Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, D'Andra M Lindbuchler, Miranda L G Hallquist, Kandamurugu Manickam, Adam H Buchanan, Alanna Kulchak Rahm, Monica A Giovanni, Lauren Frisbie,[...]. Am J Hum Genet 2018
52
17

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
752
8

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Robert C Green, Katrina A B Goddard, Gail P Jarvik, Laura M Amendola, Paul S Appelbaum, Jonathan S Berg, Barbara A Bernhardt, Leslie G Biesecker, Sawona Biswas, Carrie L Blout,[...]. Am J Hum Genet 2016
95
8

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
414
8

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
M Ragan Hart, Barbara B Biesecker, Carrie L Blout, Kurt D Christensen, Laura M Amendola, Katie L Bergstrom, Sawona Biswas, Kevin M Bowling, Kyle B Brothers, Laura K Conlin,[...]. Genet Med 2019
42
19

Sources of discordance among germ-line variant classifications in ClinVar.
Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum, Scott Topper. Genet Med 2017
46
15

Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego,[...]. Am J Hum Genet 2014
230
7

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
612
7

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Jonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, Jessica K Booker, Lacey Boshe, Timothy Carey, Kristy R Crooks, Brian C Jensen, Eric T Juengst, Kristy Lee,[...]. Genet Med 2016
49
14

Point-counterpoint. Patient autonomy and incidental findings in clinical genomics.
Susan M Wolf, George J Annas, Sherman Elias. Science 2013
155
7

Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Clara Sze-Man Tang, Saloni Dattani, Man-Ting So, Stacey S Cherny, Paul K H Tam, Pak C Sham, Maria-Mercè Garcia-Barcelo. Hum Genet 2018
17
41

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Sara L Van Driest, Quinn S Wells, Sarah Stallings, William S Bush, Adam Gordon, Deborah A Nickerson, Jerry H Kim, David R Crosslin, Gail P Jarvik, David S Carrell,[...]. JAMA 2016
111
7

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Kandamurugu Manickam, Adam H Buchanan, Marci L B Schwartz, Miranda L G Hallquist, Janet L Williams, Alanna Kulchak Rahm, Heather Rocha, Juliann M Savatt, Alyson E Evans, Loren M Butry,[...]. JAMA Netw Open 2018
73
9


Genomics is failing on diversity.
Alice B Popejoy, Stephanie M Fullerton. Nature 2016
499
6

A new initiative on precision medicine.
Francis S Collins, Harold Varmus. N Engl J Med 2015
6

Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss,[...]. Eur J Hum Genet 2016
218
6

Genomic diagnosis for children with intellectual disability and/or developmental delay.
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray,[...]. Genome Med 2017
81
7

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Layla Shahmirzadi, Elizabeth C Chao, Erika Palmaer, Melissa C Parra, Sha Tang, Kelly D Farwell Gonzalez. Genet Med 2014
68
8

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
6

Recommendations for the integration of genomics into clinical practice.
Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John Belmont, Barbara Bernhardt, Leslie Biesecker, Hans T Bjornsson, Miriam Blitzer,[...]. Genet Med 2016
74
8

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Roddy Walsh, Kate L Thomson, James S Ware, Birgit H Funke, Jessica Woodley, Karen J McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C Taylor,[...]. Genet Med 2017
314
6

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
6

Secondary findings and carrier test frequencies in a large multiethnic sample.
Tomasz Gambin, Shalini N Jhangiani, Jennifer E Below, Ian M Campbell, Wojciech Wiszniewski, Donna M Muzny, Jeffrey Staples, Alanna C Morrison, Matthew N Bainbridge, Samantha Penney,[...]. Genome Med 2015
38
15

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.
Caroline S Bennette, Carlos J Gallego, Wylie Burke, Gail P Jarvik, David L Veenstra. Genet Med 2015
61
9


Functional mapping and annotation of genetic associations with FUMA.
Kyoko Watanabe, Erdogan Taskesen, Arjen van Bochoven, Danielle Posthuma. Nat Commun 2017
582
6


HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
Michael J Ackerman, Silvia G Priori, Stephan Willems, Charles Berul, Ramon Brugada, Hugh Calkins, A John Camm, Patrick T Ellinor, Michael Gollob, Robert Hamilton,[...]. Heart Rhythm 2011
590
6

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
Mi-Ae Jang, Sang-Heon Lee, Namshin Kim, Chang-Seok Ki. Genet Med 2015
22
22


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.