A citation-based method for searching scientific literature

Peter N Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos. Am J Hum Genet 2008
Times Cited: 474







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



Times Cited
  Times     Co-cited
Similarity


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
253
19

Gene ontology: tool for the unification of biology. The Gene Ontology Consortium.
M Ashburner, C A Ball, J A Blake, D Botstein, H Butler, J M Cherry, A P Davis, K Dolinski, S S Dwight, J T Eppig,[...]. Nat Genet 2000
17

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
408
16

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Sebastian Köhler, Sandra C Doelken, Christopher J Mungall, Sebastian Bauer, Helen V Firth, Isabelle Bailleul-Forestier, Graeme C M Black, Danielle L Brown, Michael Brudno, Jennifer Campbell,[...]. Nucleic Acids Res 2014
442
15

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
14

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
13

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
Sebastian Köhler, Marcel H Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N Robinson. Am J Hum Genet 2009
248
11

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Joanna S Amberger, Carol A Bocchini, François Schiettecatte, Alan F Scott, Ada Hamosh. Nucleic Acids Res 2015
745
10

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Christopher J Mungall, Julie A McMurry, Sebastian Köhler, James P Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, Tom Conlin, Nathan Dunn, Mark Engelstad,[...]. Nucleic Acids Res 2017
136
10

Improved exome prioritization of disease genes through cross-species phenotype comparison.
Peter N Robinson, Sebastian Köhler, Anika Oellrich, Kai Wang, Christopher J Mungall, Suzanna E Lewis, Nicole Washington, Sebastian Bauer, Dominik Seelow, Peter Krawitz,[...]. Genome Res 2014
187
10

Next-generation diagnostics and disease-gene discovery with the Exomiser.
Damian Smedley, Julius O B Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Zemojtel, Orion J Buske, Nicole L Washington,[...]. Nat Protoc 2015
112
9

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
9

STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets.
Damian Szklarczyk, Annika L Gable, David Lyon, Alexander Junge, Stefan Wyder, Jaime Huerta-Cepas, Milan Simonovic, Nadezhda T Doncheva, John H Morris, Peer Bork,[...]. Nucleic Acids Res 2019
9

PhenomeNET: a whole-phenome approach to disease gene discovery.
Robert Hoehndorf, Paul N Schofield, Georgios V Gkoutos. Nucleic Acids Res 2011
141
8

The anatomy of phenotype ontologies: principles, properties and applications.
Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf. Brief Bioinform 2018
34
23

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
8

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
231
8

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
458
8

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
157
8

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Ada Hamosh, Alan F Scott, Joanna S Amberger, Carol A Bocchini, Victor A McKusick. Nucleic Acids Res 2005
7

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants.
Janet Piñero, Àlex Bravo, Núria Queralt-Rosinach, Alba Gutiérrez-Sacristán, Jordi Deu-Pons, Emilio Centeno, Javier García-García, Ferran Sanz, Laura I Furlong. Nucleic Acids Res 2017
775
7

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
7

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
7


The human disease network.
Kwang-Il Goh, Michael E Cusick, David Valle, Barton Childs, Marc Vidal, Albert-László Barabási. Proc Natl Acad Sci U S A 2007
6


Network medicine: a network-based approach to human disease.
Albert-László Barabási, Natali Gulbahce, Joseph Loscalzo. Nat Rev Genet 2011
6

ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
6

Disease Ontology: a backbone for disease semantic integration.
Lynn Marie Schriml, Cesar Arze, Suvarna Nadendla, Yu-Wei Wayne Chang, Mark Mazaitis, Victor Felix, Gang Feng, Warren Alden Kibbe. Nucleic Acids Res 2012
365
6

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.
Ana Rath, Annie Olry, Ferdinand Dhombres, Maja Miličić Brandt, Bruno Urbero, Segolene Ayme. Hum Mutat 2012
182
6

Phen-Gen: combining phenotype and genotype to analyze rare disorders.
Asif Javed, Saloni Agrawal, Pauline C Ng. Nat Methods 2014
88
6

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Marc V Singleton, Stephen L Guthery, Karl V Voelkerding, Karin Chen, Brett Kennedy, Rebecca L Margraf, Jacob Durtschi, Karen Eilbeck, Martin G Reese, Lynn B Jorde,[...]. Am J Hum Genet 2014
108
6

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Tomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul-Neumann, Sandra Doelken, Nadja Ehmke, Malte Spielmann,[...]. Sci Transl Med 2014
150
6

Cytoscape: a software environment for integrated models of biomolecular interaction networks.
Paul Shannon, Andrew Markiel, Owen Ozier, Nitin S Baliga, Jonathan T Wang, Daniel Ramage, Nada Amin, Benno Schwikowski, Trey Ideker. Genome Res 2003
6

eXtasy: variant prioritization by genomic data fusion.
Alejandro Sifrim, Dusan Popovic, Leon-Charles Tranchevent, Amin Ardeshirdavani, Ryo Sakai, Peter Konings, Joris R Vermeesch, Jan Aerts, Bart De Moor, Yves Moreau. Nat Methods 2013
101
6

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
6

PhenoTips: patient phenotyping software for clinical and research use.
Marta Girdea, Sergiu Dumitriu, Marc Fiume, Sarah Bowdin, Kym M Boycott, Sébastien Chénier, David Chitayat, Hanna Faghfoury, M Stephen Meyn, Peter N Ray,[...]. Hum Mutat 2013
136
6

Identifying facial phenotypes of genetic disorders using deep learning.
Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M Krawitz, Susanne B Kamphausen, Martin Zenker,[...]. Nat Med 2019
146
6

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
6

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Clare Turnbull, Richard H Scott, Ellen Thomas, Louise Jones, Nirupa Murugaesu, Freya Boardman Pretty, Dina Halai, Emma Baple, Clare Craig, Angela Hamblin,[...]. BMJ 2018
176
6

The Human Phenotype Ontology in 2021.
Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis-Smith, Nicole A Vasilevsky, Daniel Danis, Ganna Balagura, Gareth Baynam, Amy M Brower,[...]. Nucleic Acids Res 2021
59
10

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information.
Cynthia L Smith, Carroll-Ann W Goldsmith, Janan T Eppig. Genome Biol 2005
265
5

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
5

MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
5

Integrating phenotype ontologies with PhenomeNET.
Miguel Ángel Rodríguez-García, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf. J Biomed Semantics 2017
17
29

Neuro-symbolic representation learning on biological knowledge graphs.
Mona Alshahrani, Mohammad Asif Khan, Omar Maddouri, Akira R Kinjo, Núria Queralt-Rosinach, Robert Hoehndorf. Bioinformatics 2017
37
13

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
125
5

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Kym M Boycott, Ana Rath, Jessica X Chong, Taila Hartley, Fowzan S Alkuraya, Gareth Baynam, Anthony J Brookes, Michael Brudno, Angel Carracedo, Johan T den Dunnen,[...]. Am J Hum Genet 2017
156
5

node2vec: Scalable Feature Learning for Networks.
Aditya Grover, Jure Leskovec. KDD 2016
318
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.