Peter J Freeman, Reece K Hart, Liam J Gretton, Anthony J Brookes, Raymond Dalgleish. Hum Mutat 2018
Times Cited: 52
Times Cited: 52
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
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
48
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter E M Taschner. Hum Mutat 2016
Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter E M Taschner. Hum Mutat 2016
40
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
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
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
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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
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
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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.
Pablo Cingolani, Adrian Platts, Le Lily Wang, Melissa Coon, Tung Nguyen, Luan Wang, Susan J Land, Xiangyi Lu, Douglas M Ruden. Fly (Austin) 2012
Pablo Cingolani, Adrian Platts, Le Lily Wang, Melissa Coon, Tung Nguyen, Luan Wang, Susan J Land, Xiangyi Lu, Douglas M Ruden. Fly (Austin) 2012
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LOVD v.2.0: the next generation in gene variant databases.
Ivo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, J Celli, Jeroen F J Laros, Johan T den Dunnen. Hum Mutat 2011
Ivo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, J Celli, Jeroen F J Laros, Johan T den Dunnen. Hum Mutat 2011
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The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
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HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.
Zandra C Deans, Jennifer A Fairley, Johan T den Dunnen, Caroline Clark. Hum Mutat 2016
Zandra C Deans, Jennifer A Fairley, Johan T den Dunnen, Caroline Clark. Hum Mutat 2016
50
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.
Martin Wildeman, Ernest van Ophuizen, Johan T den Dunnen, Peter E M Taschner. Hum Mutat 2008
Martin Wildeman, Ernest van Ophuizen, Johan T den Dunnen, Peter E M Taschner. Hum Mutat 2008
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A variant by any name: quantifying annotation discordance across tools and clinical databases.
Jennifer L Yen, Sarah Garcia, Aldrin Montana, Jason Harris, Stephen Chervitz, Massimo Morra, John West, Richard Chen, Deanna M Church. Genome Med 2017
Jennifer L Yen, Sarah Garcia, Aldrin Montana, Jason Harris, Stephen Chervitz, Massimo Morra, John West, Richard Chen, Deanna M Church. Genome Med 2017
23
What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.
Véronique Tack, Zandra C Deans, Nicola Wolstenholme, Simon Patton, Elisabeth M C Dequeker. Hum Mutat 2016
Véronique Tack, Zandra C Deans, Nicola Wolstenholme, Simon Patton, Elisabeth M C Dequeker. Hum Mutat 2016
35
CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
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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
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
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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
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
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry,[...]. Nucleic Acids Res 2019
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry,[...]. Nucleic Acids Res 2019
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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
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
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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
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
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Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.
Johan T den Dunnen. Curr Protoc Hum Genet 2016
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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
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
9
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
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
9
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.
Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle. Hum Mutat 2013
Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle. Hum Mutat 2013
9
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
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
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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.
Gene Yeo, Christopher B Burge. J Comput Biol 2004
Gene Yeo, Christopher B Burge. J Comput Biol 2004
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A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature.
Reece K Hart, Rudolph Rico, Emily Hare, John Garcia, Jody Westbrook, Vincent A Fusaro. Bioinformatics 2015
Reece K Hart, Rudolph Rico, Emily Hare, John Garcia, Jody Westbrook, Vincent A Fusaro. Bioinformatics 2015
18
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
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
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.
J T den Dunnen, S E Antonarakis. Hum Mutat 2000
J T den Dunnen, S E Antonarakis. Hum Mutat 2000
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hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.
Meng Wang, Keith M Callenberg, Raymond Dalgleish, Alexandre Fedtsov, Naomi K Fox, Peter J Freeman, Kevin B Jacobs, Piotr Kaleta, Andrew J McMurry, Andreas Prlić,[...]. Hum Mutat 2018
Meng Wang, Keith M Callenberg, Raymond Dalgleish, Alexandre Fedtsov, Naomi K Fox, Peter J Freeman, Kevin B Jacobs, Piotr Kaleta, Andrew J McMurry, Andreas Prlić,[...]. Hum Mutat 2018
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The Human Phenotype Ontology in 2017.
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Ségolène Aymé, Gareth Baynam, Susan M Bello, Cornelius F Boerkoel, Kym M Boycott,[...]. Nucleic Acids Res 2017
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Ségolène Aymé, Gareth Baynam, Susan M Bello, Cornelius F Boerkoel, Kym M Boycott,[...]. Nucleic Acids Res 2017
7
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
7
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
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
7
Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes.
Johan T den Dunnen. Hum Mutat 2019
Johan T den Dunnen. Hum Mutat 2019
80
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
Quan Li, Kai Wang. Am J Hum Genet 2017
Quan Li, Kai Wang. Am J Hum Genet 2017
7
In silico prediction of splice-altering single nucleotide variants in the human genome.
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
7
VarSome: the human genomic variant search engine.
Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, Andreas Massouras. Bioinformatics 2019
Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, Andreas Massouras. Bioinformatics 2019
7
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
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
7
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
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
5
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
Jacqueline A L MacArthur, Joannella Morales, Ray E Tully, Alex Astashyn, Laurent Gil, Elspeth A Bruford, Pontus Larsson, Paul Flicek, Raymond Dalgleish, Donna R Maglott,[...]. Nucleic Acids Res 2014
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5
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration.
Helga Thorvaldsdóttir, James T Robinson, Jill P Mesirov. Brief Bioinform 2013
Helga Thorvaldsdóttir, James T Robinson, Jill P Mesirov. Brief Bioinform 2013
5
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.
S E Antonarakis. Hum Mutat 1998
S E Antonarakis. Hum Mutat 1998
5
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
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
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
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
5
The molecular basis of human retinal and vitreoretinal diseases.
Wolfgang Berger, Barbara Kloeckener-Gruissem, John Neidhardt. Prog Retin Eye Res 2010
Wolfgang Berger, Barbara Kloeckener-Gruissem, John Neidhardt. Prog Retin Eye Res 2010
5
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
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
5
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
5
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.
Stephane E Castel, Alejandra Cervera, Pejman Mohammadi, François Aguet, Ferran Reverter, Aaron Wolman, Roderic Guigo, Ivan Iossifov, Ana Vasileva, Tuuli Lappalainen. Nat Genet 2018
Stephane E Castel, Alejandra Cervera, Pejman Mohammadi, François Aguet, Ferran Reverter, Aaron Wolman, Roderic Guigo, Ivan Iossifov, Ana Vasileva, Tuuli Lappalainen. Nat Genet 2018
5
A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
5
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
5
Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift.
Pablo Cingolani, Viral M Patel, Melissa Coon, Tung Nguyen, Susan J Land, Douglas M Ruden, Xiangyi Lu. Front Genet 2012
Pablo Cingolani, Viral M Patel, Melissa Coon, Tung Nguyen, Susan J Land, Douglas M Ruden, Xiangyi Lu. Front Genet 2012
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Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
5
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.