A citation-based method for searching scientific literature

Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, Sharon E Plon, Leslie G Biesecker. Hum Mutat 2018
Times Cited: 39







List of co-cited articles
158 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
87

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
191
56

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Jessica L Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S Hruska, Helio A Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan,[...]. Hum Mutat 2018
65
35

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti,[...]. Hum Mutat 2018
155
33

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
142
33

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, Garry R Cutting, Marc S Greenblatt, Christopher D Heinen, Dona M Kanavy, Xi Luo, Shannon M McNulty, Lea M Starita,[...]. Genome Med 2019
113
33

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
255
30

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
28


Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield,[...]. Genet Med 2018
150
25

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
555
23

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Bruce D Gelb, Hélène Cavé, Mitchell W Dillon, Karen W Gripp, Jennifer A Lee, Heather Mason-Suares, Katherine A Rauen, Bradley Williams, Martin Zenker, Lisa M Vincent. Genet Med 2018
72
23

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
133
23

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fatima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman,[...]. Hum Mutat 2018
64
23

Using high-resolution variant frequencies to empower clinical genome interpretation.
Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne H O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur,[...]. Genet Med 2017
197
23

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Diane B Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Meredith A Weaver, Angela M Lager, Jixia Liu, Rachel Mangels, Selina S Dwight,[...]. Hum Mutat 2018
22
36


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

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
631
17

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Edgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, Danielle R Azzariti, C Lisa Kurtz, Kristy Lee, Jessica L Mester, Meredith A Weaver, Erin Currey, William Craigen,[...]. Hum Mutat 2018
67
15

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
15

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.
Steven M Harrison, Leslie G Biesecker, Heidi L Rehm. Curr Protoc Hum Genet 2019
22
27

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
15

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
15

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
15

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, Christin D Collins, Soma Das, Joshua L Deignan, Kathryn B Garber, John Garcia, Olga Jarinova, Amy E Knight Johnson,[...]. Hum Mutat 2018
26
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
56
12


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
12

Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz,[...]. Cell 2019
408
12


Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Kathryn B Garber, Lisa M Vincent, John J Alexander, Lora J H Bean, Sherri Bale, Madhuri Hegde. Am J Hum Genet 2016
38
10

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
232
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
812
10

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

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

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, Ozge Ceyhan-Birsoy, Marina DiStefano, Selina S Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A Seifert, Tam P Sneddon,[...]. Am J Hum Genet 2017
210
10

ClinGen Allele Registry links information about genetic variants.
Piotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, Andrew R Jackson, Chris Bizon, Tristan Nelson, Bradford Powell, Robert R Freimuth, Natasha Strande, Neethu Shah,[...]. Hum Mutat 2018
18
22

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C Porter, Sarah A Jackson, Sioban Keel, Michael Chicka, Anna L Brown, Chimene Kesserwan, Anupriya Agarwal,[...]. Blood Adv 2019
50
10

Sambamba: fast processing of NGS alignment formats.
Artem Tarasov, Albert J Vilella, Edwin Cuppen, Isaac J Nijman, Pjotr Prins. Bioinformatics 2015
554
10

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
7

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
7

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
7

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
82
7

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
684
7

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
69
7

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
344
7

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Sharon E Plon, Diana M Eccles, Douglas Easton, William D Foulkes, Maurizio Genuardi, Marc S Greenblatt, Frans B L Hogervorst, Nicoline Hoogerbrugge, Amanda B Spurdle, Sean V Tavtigian. Hum Mutat 2008
576
7

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
362
7

Towards an evidence-based process for the clinical interpretation of copy number variation.
E R Riggs, D M Church, K Hanson, V L Horner, E B Kaminsky, R M Kuhn, K E Wain, E S Williams, S Aradhya, H M Kearney,[...]. Clin Genet 2012
63
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.