Sebastian Köhler

Cited by

	All	Since 2016
Citations	6646	4673
h-index	31	25
i10-index	46	41

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200920102011201220132014201520162017201820192020202150 109 181 262 265 392 654 720 788 896 1055 1021 176

Co-authors

Peter RobinsonProfessor of Computational Biology, The Jackson Laboratory for Genomic MedicineVerified email at jax.org
Christopher J MungallLawrence Berkeley National LaboratoryVerified email at lbl.gov
Damian SmedleyQueen Mary University of LondonVerified email at qmul.ac.uk
Melissa HaendelOregon State University & OHSUVerified email at tislab.org
Suzanna LewisLawrence Berkeley National LaboratoryVerified email at lbl.gov
Marcel H SchulzProfessor of Computational Biology, Goethe University Frankfurt, GermanyVerified email at em.uni-frankfurt.de
Tudor GrozaPryzm HealthVerified email at pryzm.health
Tomasz ZemojtelHead of Genomics Platform, Berlin Institute of Health, University Clinics ChariteVerified email at bihealth.de
Georgios GkoutosUniversity of Birmingham, College of Medical and Dental SciencesVerified email at bham.ac.uk
Cynthia L. SmithThe Jackson LaboratoryVerified email at jax.org
Kai WangChildren's Hospital of PhiladelphiaVerified email at email.chop.edu
Ana RathDirector Inserm US14 OrphanetVerified email at inserm.fr
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. HancockIndependent/University of Ljubljana (Visiting)Verified email at elixir-europe.org
Nigel CollierProfessor of Natural Language Processing, University of CambridgeVerified email at cam.ac.uk
Francisco M CoutoLASIGE, Departamento de Informática, Faculdade de Ciências, Universidade de Lisboa, PortugalVerified email at campus.ul.pt

Sebastian Köhler

Senior Information Architect, Ada Health; Member of Monarch Initiative

Verified email at ada.com - Homepage

Knowledge representation Biomedical informatics Ontology Genomics Complex Networks


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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	1070	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	732	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	723	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	528	2017
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	378	2009
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), 827-829, 2010	340	2010
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019	273	2019
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	252	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	196	2014
Finding our way through phenotypes AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ... PLoS Biol 13 (1), e1002033, 2015	173	2015
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, 2017	169	2017
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	157	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	154	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	145	2016
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	120	2014
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	107	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	83	2009
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	79	2016
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	78	2013
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	70	2014

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