A citation-based method for searching scientific literature

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, Jerry H Kim, Elisabeth A Rosenthal, Daniel S Kim, Holly K Tabor, Michael J Bamshad, Arno G Motulsky, C Ronald Scott, Colin C Pritchard, Tom Walsh, Wylie Burke, Wendy H Raskind, Peter Byers, Fuki M Hisama, Deborah A Nickerson, Gail P Jarvik. Am J Hum Genet 2013
Times Cited: 268







List of co-cited articles
490 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
814
55

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
51

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
46

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
219
36

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
20

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
798
19

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
17

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
50
30


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

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
264
12

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
492
11

Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke, Armand H Matheny Antommaria, Robin Bennett, Jeffrey Botkin, Ellen Wright Clayton, Gail E Henderson, Ingrid A Holm, Gail P Jarvik, Muin J Khoury, Bartha Maria Knoppers,[...]. Genet Med 2013
213
9

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
9

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
236
9

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Jennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, David Ng, Larry N Singh, Jamie K Teer, James C Mullikin, Leslie G Biesecker. Am J Hum Genet 2012
159
9

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
9

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
9

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
9

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
74
10

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
443
8

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group.
Richard R Fabsitz, Amy McGuire, Richard R Sharp, Mona Puggal, Laura M Beskow, Leslie G Biesecker, Ebony Bookman, Wylie Burke, Esteban Gonzalez Burchard, George Church,[...]. Circ Cardiovasc Genet 2010
281
8

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V Ball, Matthew Mort, Andrew D Phillips, Katy Shaw, Peter D Stenson, David N Cooper,[...]. Am J Hum Genet 2012
183
8

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
21

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Holly K Tabor, Paul L Auer, Seema M Jamal, Jessica X Chong, Joon-Ho Yu, Adam S Gordon, Timothy A Graubert, Christopher J O'Donnell, Stephen S Rich, Deborah A Nickerson,[...]. Am J Hum Genet 2014
64
12


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
117
8

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
Carla G van El, Martina C Cornel, Pascal Borry, Ros J Hastings, Florence Fellmann, Shirley V Hodgson, Heidi C Howard, Anne Cambon-Thomsen, Bartha M Knoppers, Hanne Meijers-Heijboer,[...]. Eur J Hum Genet 2013
202
8

A new initiative on precision medicine.
Francis S Collins, Harold Varmus. N Engl J Med 2015
8

Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Callum J Bell, Darrell L Dinwiddie, Neil A Miller, Shannon L Hateley, Elena E Ganusova, Joann Mudge, Ray J Langley, Lu Zhang, Clarence C Lee, Faye D Schilkey,[...]. Sci Transl Med 2011
431
8

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
54
14

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D Phillips, David N Cooper. Hum Genet 2017
605
8

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
775
7

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
66
10

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lauren Lawrence, Murat Sincan, Thomas Markello, David R Adams, Fred Gill, Rena Godfrey, Gretchen Golas, Catherine Groden, Dennis Landis, Michele Nehrebecky,[...]. Genet Med 2014
40
17

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
501
7

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
7



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
100
7

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.
Flavia M Facio, Haley Eidem, Tyler Fisher, Stephanie Brooks, Amy Linn, Kimberly A Kaphingst, Leslie G Biesecker, Barbara B Biesecker. Eur J Hum Genet 2013
122
6

Managing incidental findings and research results in genomic research involving biobanks and archived data sets.
Susan M Wolf, Brittney N Crock, Brian Van Ness, Frances Lawrenz, Jeffrey P Kahn, Laura M Beskow, Mildred K Cho, Michael F Christman, Robert C Green, Ralph Hall,[...]. Genet Med 2012
296
6

Human Gene Mutation Database (HGMD): 2003 update.
Peter D Stenson, Edward V Ball, Matthew Mort, Andrew D Phillips, Jacqueline A Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, David N Cooper. Hum Mutat 2003
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
23
26

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
53
11

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
35

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
Chengliang Dong, Peng Wei, Xueqiu Jian, Richard Gibbs, Eric Boerwinkle, Kai Wang, Xiaoming Liu. Hum Mol Genet 2015
485
6


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
233
6

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Kym Boycott, Taila Hartley, Shelin Adam, Francois Bernier, Karen Chong, Bridget A Fernandez, Jan M Friedman, Michael T Geraghty, Stacey Hume, Bartha M Knoppers,[...]. J Med Genet 2015
115
6


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.