Sebastian Köhler - Google Scholar Citations

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	All	Since 2014
Citations	4941	4016
h-index	29	26
i10-index	39	37

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Co-authors

Peter RobinsonProfessor of Computational Biology, The Jackson Laboratory for Genomic MedicineVerified email at jax.org
Christopher J MungallLawrence Berkeley LaboratoryVerified email at lbl.gov
Damian SmedleyVerified email at sanger.ac.uk
Suzanna LewisLawrence Berkeley National LaboratoryVerified email at lbl.gov
Melissa HaendelOregon State University & OHSUVerified email at tislab.org
Marcel H SchulzProfessor of Computational Biology, Goethe University Frankfurt, GermanyVerified email at em.uni-frankfurt.de
Tomasz ZemojtelHead of Genomics Platform, Berlin Institute of Health, University Clinics ChariteVerified email at bihealth.de
Tudor GrozaPryzm HealthVerified email at pryzm.health
Cynthia L. SmithThe Jackson LaboratoryVerified email at jax.org
Kai WangChildren's Hospital of PhiladelphiaVerified email at email.chop.edu
Helen ParkinsonEuropean Bioinformatics Institute - Head of Molecular Archives, Team LeaderVerified email at ebi.ac.uk
William Paul BoneGenomics and Computational Biology Graduate Student, University of PennsylvaniaVerified email at pennmedicine.upenn.edu
Warren KibbeDuke UniversityVerified email at duke.edu
Lynn SchrimlAssistant Professor, Department of Epidemiology and Public Health, Institute for Genome Sciences, University of Maryland School Verified email at som.umaryland.edu
Matthew HurlesSenior Group Leader in Human Genetics, Wellcome Trust Sanger InstituteVerified email at sanger.ac.uk
John M. HancockELIXIRVerified email at elixir-europe.org
Nigel CollierDirector of Research in Computational Linguistics, University of CambridgeVerified email at cam.ac.uk
Francisco M CoutoLASIGE, Departamento de Informática, Faculdade de Ciências, Universidade de Lisboa, PortugalVerified email at di.fc.ul.pt
segolene aymeDirectrice de recherche émérite à l'INSERMVerified email at inserm.fr
Ian HolmesAssociate Professor, Computational Biology, UC BerkeleyVerified email at berkeley.edu

Sebastian Köhler

Juniorprofessor @ Berlin Institute of Health & Einstein Center Digital Future & Charité

Verified email at charite.de - Homepage

Bioinformatics Biomedical informatics Ontology Semantic Web Complex Networks


Title	Cited by	Year
Walking the interactome for prioritization of candidate disease genes S Köhler, S Bauer, D Horn, PN Robinson The American Journal of Human Genetics 82 (4), 949-958, 2008	897	2008
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014	602	2014
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease PN Robinson, S Köhler, S Bauer, D Seelow, D Horn, S Mundlos The American Journal of Human Genetics 83 (5), 610-615, 2008	585	2008
The Human Phenotype Ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017	367	2017
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ... Nature genetics 42 (10), 827, 2010	316	2010
Clinical diagnostics in human genetics with semantic similarity searches in ontologies S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ... The American Journal of Human Genetics 85 (4), 457-464, 2009	287	2009
Improved exome prioritization of disease genes through cross-species phenotype comparison PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ... Genome research 24 (2), 340-348, 2014	205	2014
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ... Science translational medicine 6 (252), 252ra123-252ra123, 2014	157	2014
Finding our way through phenotypes AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ... PLoS biology 13 (1), e1002033, 2015	138	2015
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ... The American Journal of Human Genetics 97 (1), 111-124, 2015	110	2015
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ... The American Journal of Human Genetics 99 (3), 595-606, 2016	98	2016
Next-generation diagnostics and disease-gene discovery with the Exomiser D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ... Nature protocols 10 (12), 2004-2015, 2015	90	2015
Deletions of chromosomal regulatory boundaries are associated with congenital disease J Ibn-Salem, S Köhler, MI Love, HR Chung, N Huang, ME Hurles, ... Genome Biology 15 (423), 2014	89	2014
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species CJ Mungall, JA McMurry, S Köhler, JP Balhoff, C Borromeo, M Brush, ... Nucleic acids research 45 (D1), D712-D722, 2016	86	2016
PhenoDigm: analyzing curated annotations to associate animal models with human diseases D Smedley, A Oellrich, S Köhler, B Ruef, M Westerfield, P Robinson, ... Database 2013, bat025, 2013	85	2013
Entity/quality-based logical definitions for the human skeletal phenome using PATO GV Gkoutos, C Mungall, S Dolken, M Ashburner, S Lewis, J Hancock, ... 2009 Annual International Conference of the IEEE Engineering in Medicine and …, 2009	75	2009
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ... F1000Research 2, 2013	65	2013
MouseFinder: candidate disease genes from mouse phenotype data CK Chen, CJ Mungall, GV Gkoutos, SC Doelken, S Köhler, BJ Ruef, ... Human mutation 33 (5), 858-866, 2012	55	2012
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608, 2016	54	2016
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases D Smedley, S Köhler, JC Czeschik, J Amberger, C Bocchini, A Hamosh, ... Bioinformatics 30 (22), 3215-3222, 2014	50	2014

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