A citation-based method for searching scientific literature

Stephen E Lincoln, Rebecca Truty, Chiao-Feng Lin, Justin M Zook, Joshua Paul, Vincent H Ramey, Marc Salit, Heidi L Rehm, Robert L Nussbaum, Matthew S Lebo. J Mol Diagn 2019
Times Cited: 23







List of co-cited articles
120 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
52

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
902
34

ACMG clinical laboratory standards for next-generation sequencing.
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, Jonathan S Berg, Kerry K Brown, Joshua L Deignan, Michael J Friez, Birgit H Funke, Madhuri R Hegde, Elaine Lyon. Genet Med 2013
550
30

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.
Tyler F Beck, James C Mullikin, Leslie G Biesecker. Clin Chem 2016
98
26

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Somak Roy, Christopher Coldren, Arivarasan Karunamurthy, Nefize S Kip, Eric W Klee, Stephen E Lincoln, Annette Leon, Mrudula Pullambhatla, Robyn L Temple-Smolkin, Karl V Voelkerding,[...]. J Mol Diagn 2018
173
26

An open resource for accurately benchmarking small variant and reference calls.
Justin M Zook, Jennifer McDaniel, Nathan D Olson, Justin Wagner, Hemang Parikh, Haynes Heaton, Sean A Irvine, Len Trigg, Rebecca Truty, Cory Y McLean,[...]. Nat Biotechnol 2019
96
26

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
21

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Aziz Belkadi, Alexandre Bolze, Yuval Itan, Aurélie Cobat, Quentin B Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean-Laurent Casanova, Laurent Abel. Proc Natl Acad Sci U S A 2015
287
21

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
498
17

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
17

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
Diana Mandelker, Sami S Amr, Trevor Pugh, Sivakumar Gowrisankar, Rimma Shakhbatyan, Elizabeth Duffy, Mark Bowser, Bryan Harrison, Katherine Lafferty, Lisa Mahanta,[...]. J Mol Diagn 2014
43
17

Best practices for benchmarking germline small-variant calls in human genomes.
Peter Krusche, Len Trigg, Paul C Boutros, Christopher E Mason, Francisco M De La Vega, Benjamin L Moore, Mar Gonzalez-Porta, Michael A Eberle, Zivana Tezak, Samir Lababidi,[...]. Nat Biotechnol 2019
83
17

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Rebecca Truty, Joshua Paul, Michael Kennemer, Stephen E Lincoln, Eric Olivares, Robert L Nussbaum, Swaroop Aradhya. Genet Med 2019
66
17

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
280
17

Detection of long repeat expansions from PCR-free whole-genome sequence data.
Egor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, Mitchell A Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S Ajay, Vani Rajan, Bryan R Lajoie, Nathan H Johnson,[...]. Genome Res 2017
139
13

The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
13

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Joshua L Deignan, Wendy K Chung, Hutton M Kearney, Kristin G Monaghan, Catherine W Rehder, Elizabeth C Chao. Genet Med 2019
47
13

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
13

Extensive sequencing of seven human genomes to characterize benchmark reference materials.
Justin M Zook, David Catoe, Jennifer McDaniel, Lindsay Vang, Noah Spies, Arend Sidow, Ziming Weng, Yuling Liu, Christopher E Mason, Noah Alexander,[...]. Sci Data 2016
270
13

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
Nazneen Aziz, Qin Zhao, Lynn Bry, Denise K Driscoll, Birgit Funke, Jane S Gibson, Wayne W Grody, Madhuri R Hegde, Gerald A Hoeltge, Debra G B Leonard,[...]. Arch Pathol Lab Med 2015
201
13

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist,[...]. Lancet Respir Med 2015
201
13

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
386
13

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Rashesh V Sanghvi, Christian J Buhay, Bradford C Powell, Ellen A Tsai, Michael O Dorschner, Celine S Hong, Matthew S Lebo, Ariella Sasson, David S Hanna, Sean McGee,[...]. Genet Med 2018
14
21

Performance comparison of exome DNA sequencing technologies.
Michael J Clark, Rui Chen, Hugo Y K Lam, Konrad J Karczewski, Rong Chen, Ghia Euskirchen, Atul J Butte, Michael Snyder. Nat Biotechnol 2011
331
13

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
13

DNA sequencing with chain-terminating inhibitors.
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
13

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
250
13

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.
Michael A Eberle, Epameinondas Fritzilas, Peter Krusche, Morten Källberg, Benjamin L Moore, Mitchell A Bekritsky, Zamin Iqbal, Han-Yu Chuang, Sean J Humphray, Aaron L Halpern,[...]. Genome Res 2017
168
13

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Christina M Sloan-Heggen, Amanda O Bierer, A Eliot Shearer, Diana L Kolbe, Carla J Nishimura, Kathy L Frees, Sean S Ephraim, Seiji B Shibata, Kevin T Booth, Colleen A Campbell,[...]. Hum Genet 2016
216
13

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Andrew M Gross, Subramanian S Ajay, Vani Rajan, Carolyn Brown, Krista Bluske, Nicole J Burns, Aditi Chawla, Alison J Coffey, Alka Malhotra, Alicia Scocchia,[...]. Genet Med 2019
47
13

Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J Gardner, Oscar L Rodriguez, Li Guo, Ryan L Collins,[...]. Nat Commun 2019
278
13

Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
138
13

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
206
13

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Neil A Miller, Emily G Farrow, Margaret Gibson, Laurel K Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Krivohlavek, Adam Walter,[...]. Genome Med 2015
129
13

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.
Wenbo Mu, Hsiao-Mei Lu, Jefferey Chen, Shuwei Li, Aaron M Elliott. J Mol Diagn 2016
99
13

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.
Justin M Zook, Brad Chapman, Jason Wang, David Mittelman, Oliver Hofmann, Winston Hide, Marc Salit. Nat Biotechnol 2014
435
13

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Samuel P Strom, Hane Lee, Kingshuk Das, Eric Vilain, Stanley F Nelson, Wayne W Grody, Joshua L Deignan. Genet Med 2014
89
13

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.
Linnea M Baudhuin, Susan A Lagerstedt, Eric W Klee, Numrah Fadra, Devin Oglesbee, Matthew J Ferber. J Mol Diagn 2015
71
13

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Diana Mandelker, Ryan J Schmidt, Arunkanth Ankala, Kristin McDonald Gibson, Mark Bowser, Himanshu Sharma, Elizabeth Duffy, Madhuri Hegde, Avni Santani, Matthew Lebo,[...]. Genet Med 2016
85
13

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
13

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
119
13

Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Elizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, Adam H Buchanan, Elizabeth V Clarke, Erin Currey, Orit Dagan-Rosenfeld, Kristy Lee, Noralane M Lindor, Christa Lese Martin,[...]. Hum Mutat 2018
18
16

STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S Clayton, Nigel G Laing,[...]. Genome Biol 2018
54
8

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
Rick M Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo. Am J Hum Genet 2018
42
8

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
Marilyn M Li, Michael Datto, Eric J Duncavage, Shashikant Kulkarni, Neal I Lindeman, Somak Roy, Apostolia M Tsimberidou, Cindy L Vnencak-Jones, Daynna J Wolff, Anas Younes,[...]. J Mol Diagn 2017
669
8

A standardized framework for the validation and verification of clinical molecular genetic tests.
Christopher J Mattocks, Michael A Morris, Gert Matthijs, Elfriede Swinnen, Anniek Corveleyn, Els Dequeker, Clemens R Müller, Victoria Pratt, Andrew Wallace. Eur J Hum Genet 2010
117
8

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Lawrence J Jennings, Maria E Arcila, Christopher Corless, Suzanne Kamel-Reid, Ira M Lubin, John Pfeifer, Robyn L Temple-Smolkin, Karl V Voelkerding, Marina N Nikiforova. J Mol Diagn 2017
283
8

Accurate multiplex polony sequencing of an evolved bacterial genome.
Jay Shendure, Gregory J Porreca, Nikos B Reppas, Xiaoxia Lin, John P McCutcheon, Abraham M Rosenbaum, Michael D Wang, Kun Zhang, Robi D Mitra, George M Church. Science 2005
728
8

Genome sequencing in microfabricated high-density picolitre reactors.
Marcel Margulies, Michael Egholm, William E Altman, Said Attiya, Joel S Bader, Lisa A Bemben, Jan Berka, Michael S Braverman, Yi-Ju Chen, Zhoutao Chen,[...]. Nature 2005
8

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.
Sami S Amr, Elissa Murphy, Elizabeth Duffy, Rojeen Niazi, Jorune Balciuniene, Minjie Luo, Heidi L Rehm, Ahmad N Abou Tayoun. Clin Chem 2018
12
16


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.