A citation-based method for searching scientific literature

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, Amy L McGuire, Richard A Gibbs, James R Lupski, Eric Boerwinkle. Genome Med 2015
Times Cited: 38







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



Times Cited
  Times     Co-cited
Similarity


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
268
44

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
42

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
792
42

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
39

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
34

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
31

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
31

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
28

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
23

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
21

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
21

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
558
15

Clinical interpretation and implications of whole-genome sequencing.
Frederick E Dewey, Megan E Grove, Cuiping Pan, Benjamin A Goldstein, Jonathan A Bernstein, Hassan Chaib, Jason D Merker, Rachel L Goldfeder, Gregory M Enns, Sean P David,[...]. JAMA 2014
285
15

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.
Jeffrey G Reid, Andrew Carroll, Narayanan Veeraraghavan, Mahmoud Dahdouli, Andreas Sundquist, Adam English, Matthew Bainbridge, Simon White, William Salerno, Christian Buhay,[...]. BMC Bioinformatics 2014
126
15

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin,[...]. Am J Hum Genet 2015
344
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
15

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 systematic approach to the reporting of medically relevant findings from whole genome sequencing.
Heather M McLaughlin, Ozge Ceyhan-Birsoy, Kurt D Christensen, Isaac S Kohane, Joel Krier, William J Lane, Denise Lautenbach, Matthew S Lebo, Kalotina Machini, Calum A MacRae,[...]. BMC Med Genet 2014
61
13

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
13

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Julie Jurgens, Hua Ling, Kurt Hetrick, Elizabeth Pugh, Francois Schiettecatte, Kimberly Doheny, Ada Hamosh, Dimitri Avramopoulos, David Valle, Nara Sobreira. Genet Med 2015
30
16

An integrative variant analysis suite for whole exome next-generation sequencing data.
Danny Challis, Jin Yu, Uday S Evani, Andrew R Jackson, Sameer Paithankar, Cristian Coarfa, Aleksandar Milosavljevic, Richard A Gibbs, Fuli Yu. BMC Bioinformatics 2012
197
13

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
49
13

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
316
13

Human genome sequencing in health and disease.
Claudia Gonzaga-Jauregui, James R Lupski, Richard A Gibbs. Annu Rev Med 2012
255
10

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
201
10

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
10

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Jennifer J Johnston, Katie L Lewis, David Ng, Larry N Singh, Jamila Wynter, Carmen Brewer, Brian P Brooks, Isaac Brownell, Fabio Candotti, Steven G Gonsalves,[...]. Am J Hum Genet 2015
47
10

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
212
10

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
285
10

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
10

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
767
10

Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Amber N Pursley, Sung-Hae L Kang, Yaping Yang, Joanna Wiszniewska, Beata A Nowakowska,[...]. Hum Mutat 2010
182
10

The variant call format and VCFtools.
Petr Danecek, Adam Auton, Goncalo Abecasis, Cornelis A Albers, Eric Banks, Mark A DePristo, Robert E Handsaker, Gerton Lunter, Gabor T Marth, Stephen T Sherry,[...]. Bioinformatics 2011
10

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
182
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


Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun,[...]. Science 2012
10

Molecular diagnostic experience of whole-exome sequencing in adult patients.
Jennifer E Posey, Jill A Rosenfeld, Regis A James, Matthew Bainbridge, Zhiyv Niu, Xia Wang, Shweta Dhar, Wojciech Wiszniewski, Zeynep H C Akdemir, Tomasz Gambin,[...]. Genet Med 2016
115
10

An integrated map of genetic variation from 1,092 human genomes.
Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean. Nature 2012
10

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn, Zeynep H Coban Akdemir, Hans Christian Erichsen, Lisa R Forbes, Shen Gu, Bo Yuan,[...]. J Allergy Clin Immunol 2017
132
10

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
10

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Gabriel A Lazarin, Imran S Haque, Shivani Nazareth, Kevin Iori, A Scott Patterson, Jessica L Jacobson, John R Marshall, William K Seltzer, Pasquale Patrizio, Eric A Evans,[...]. Genet Med 2013
131
10

Changing trends in carrier screening for genetic disease in the United States.
Shivani B Nazareth, Gabriel A Lazarin, James D Goldberg. Prenat Diagn 2015
44
10


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
10

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
260
10

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
Jason L Vassy, Denise M Lautenbach, Heather M McLaughlin, Sek Won Kong, Kurt D Christensen, Joel Krier, Isaac S Kohane, Lindsay Z Feuerman, Jennifer Blumenthal-Barby, J Scott Roberts,[...]. Trials 2014
101
7

Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics.
Bruce R Korf, Anna B Berry, Melvin Limson, Ali J Marian, Michael F Murray, P Pearl O'Rourke, Eugene R Passamani, Mary V Relling, John Tooker, Gregory J Tsongalis,[...]. Genet Med 2014
78
7

Pharmacogenomics knowledge for personalized medicine.
M Whirl-Carrillo, E M McDonagh, J M Hebert, L Gong, K Sangkuhl, C F Thorn, R B Altman, T E Klein. Clin Pharmacol Ther 2012
884
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.