A citation-based method for searching scientific literature

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, Sharon E Plon, Erin M Ramos, Stephen T Sherry, Michael S Watson. N Engl J Med 2015
Times Cited: 502







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



Times Cited
  Times     Co-cited
Similarity


Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation.
Nuala A O'Leary, Mathew W Wright, J Rodney Brister, Stacy Ciufo, Diana Haddad, Rich McVeigh, Bhanu Rajput, Barbara Robbertse, Brian Smith-White, Danso Ako-Adjei,[...]. Nucleic Acids Res 2016
5

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
5

Genic intolerance to functional variation and the interpretation of personal genomes.
Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein. PLoS Genet 2013
566
5

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
147
5

A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby,[...]. Nat Genet 2014
521
5

AnnotSV: an integrated tool for structural variations annotation.
Véronique Geoffroy, Yvan Herenger, Arnaud Kress, Corinne Stoetzel, Amélie Piton, Hélène Dollfus, Jean Muller. Bioinformatics 2018
54
9

Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.
Charlotte Burns, Laura Yeates, Catherine Spinks, Christopher Semsarian, Jodie Ingles. Eur J Hum Genet 2017
21
19

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Amit V Khera, Mark Chaffin, Krishna G Aragam, Mary E Haas, Carolina Roselli, Seung Hoan Choi, Pradeep Natarajan, Eric S Lander, Steven A Lubitz, Patrick T Ellinor,[...]. Nat Genet 2018
794
4


Interdisciplinary psychosocial care for families with inherited cardiovascular diseases.
Colleen Caleshu, Nadine A Kasparian, Katharine S Edwards, Laura Yeates, Christopher Semsarian, Marco Perez, Euan Ashley, Christian J Turner, Joshua W Knowles, Jodie Ingles. Trends Cardiovasc Med 2016
34
11

Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.
Chloe Reuter, Megan E Grove, Kate Orland, Katherine Spoonamore, Colleen Caleshu. J Genet Couns 2018
23
17

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.
Austin Bland, Elizabeth A Harrington, Kyla Dunn, Mitchel Pariani, Julia C K Platt, Megan E Grove, Colleen Caleshu. Genet Med 2018
26
15

Factors influencing uptake of familial long QT syndrome genetic testing.
Charlotte Burns, Julie McGaughran, Andrew Davis, Christopher Semsarian, Jodie Ingles. Am J Med Genet A 2016
22
18

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.
Jipin Das K, Jodie Ingles, Richard D Bagnall, Christopher Semsarian. Genet Med 2014
58
6

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
50
8

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
315
4

Germline Mutations in Predisposition Genes in Pediatric Cancer.
Jinghui Zhang, Michael F Walsh, Gang Wu, Michael N Edmonson, Tanja A Gruber, John Easton, Dale Hedges, Xiaotu Ma, Xin Zhou, Donald A Yergeau,[...]. N Engl J Med 2015
516
4

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Karen L David, Robert G Best, Leslie Manace Brenman, Lynn Bush, Joshua L Deignan, David Flannery, Jodi D Hoffman, Ingrid Holm, David T Miller, James O'Leary,[...]. Genet Med 2019
48
8


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
59
6

Genomics is failing on diversity.
Alice B Popejoy, Stephanie M Fullerton. Nature 2016
551
4

Integrative analysis of 111 reference human epigenomes.
Anshul Kundaje, Wouter Meuleman, Jason Ernst, Misha Bilenky, Angela Yen, Alireza Heravi-Moussavi, Pouya Kheradpour, Zhizhuo Zhang, Jianrong Wang, Michael J Ziller,[...]. Nature 2015
4

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
F Kyle Satterstrom, Jack A Kosmicki, Jiebiao Wang, Michael S Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei,[...]. Cell 2020
369
4

The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Michael Brudno, Han G Brunner, Orion J Buske, Knox Carey, Cassie Doll,[...]. Hum Mutat 2015
228
4

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
336
4

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
809
4

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
4

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards.
Simon Fishilevich, Ron Nudel, Noa Rappaport, Rotem Hadar, Inbar Plaschkes, Tsippi Iny Stein, Naomi Rosen, Asher Kohn, Michal Twik, Marilyn Safran,[...]. Database (Oxford) 2017
310
4

Pathogenic Germline Variants in 10,389 Adult Cancers.
Kuan-Lin Huang, R Jay Mashl, Yige Wu, Deborah I Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila Reynolds, Matthew A Wyczalkowski, Ninad Oak,[...]. Cell 2018
260
4

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
119
4

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
4

SIFT: Predicting amino acid changes that affect protein function.
Pauline C Ng, Steven Henikoff. Nucleic Acids Res 2003
4

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
114
4

High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
Can Hasdemir, Serdar Payzin, Umut Kocabas, Hatice Sahin, Nihal Yildirim, Alpay Alp, Mehmet Aydin, Ryan Pfeiffer, Elena Burashnikov, Yuesheng Wu,[...]. Heart Rhythm 2015
57
7

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.
Frank I Marcus, William J McKenna, Duane Sherrill, Cristina Basso, Barbara Bauce, David A Bluemke, Hugh Calkins, Domenico Corrado, Moniek G P J Cox, James P Daubert,[...]. Circulation 2010
4

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Arnon Adler, Valeria Novelli, Ahmad S Amin, Emanuela Abiusi, Melanie Care, Eline A Nannenberg, Harriet Feilotter, Simona Amenta, Daniela Mazza, Hennie Bikker,[...]. Circulation 2020
67
5

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.
Robert Resta, Barbara Bowles Biesecker, Robin L Bennett, Sandra Blum, Susan Estabrooks Hahn, Michelle N Strecker, Janet L Williams. J Genet Couns 2006
367
4

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.
Daniele Carrieri, Heidi C Howard, Caroline Benjamin, Angus J Clarke, Sandi Dheensa, Shane Doheny, Naomi Hawkins, Tanya F Halbersma-Konings, Leigh Jackson, Hülya Kayserili,[...]. Eur J Hum Genet 2019
35
11

Systematic localization of common disease-associated variation in regulatory DNA.
Matthew T Maurano, Richard Humbert, Eric Rynes, Robert E Thurman, Eric Haugen, Hao Wang, Alex P Reynolds, Richard Sandstrom, Hongzhu Qu, Jennifer Brody,[...]. Science 2012
4

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Darío G Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M Opitz, Renata Laxova,[...]. Cell 2015
920
4

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Francesco Mazzarotto, Upasana Tayal, Rachel J Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Risha Govind, Erica Mazaika, Antonio de Marvao, Timothy J W Dawes,[...]. Circulation 2020
54
7

Ensembl 2020.
Andrew D Yates, Premanand Achuthan, Wasiu Akanni, James Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Andrey G Azov, Ruth Bennett,[...]. Nucleic Acids Res 2020
462
4

Genenames.org: the HGNC and VGNC resources in 2019.
Bryony Braschi, Paul Denny, Kristian Gray, Tamsin Jones, Ruth Seal, Susan Tweedie, Bethan Yates, Elspeth Bruford. Nucleic Acids Res 2019
145
4

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
4

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
Peter N Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos. Am J Hum Genet 2008
465
4

SIFT missense predictions for genomes.
Robert Vaser, Swarnaseetha Adusumalli, Sim Ngak Leng, Mile Sikic, Pauline C Ng. Nat Protoc 2016
423
4


The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
David J Carey, Samantha N Fetterolf, F Daniel Davis, William A Faucett, H Lester Kirchner, Uyenlinh Mirshahi, Michael F Murray, Diane T Smelser, Glenn S Gerhard, David H Ledbetter. Genet Med 2016
161
4

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
617
4

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Peter D Stenson, Matthew Mort, Edward V Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S Millar, Andrew D Phillips,[...]. Hum Genet 2020
48
8


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.