Sebastian Köhler

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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 HaendelUniversity of Colorado Anschutz Medical CampusVerified 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 GrozaEuropean Bioinformatics InstituteVerified email at ebi.ac.uk
Tomasz ZemojtelHead of Genomics Platform, Berlin Institute of Health, University Clinics ChariteVerified email at bihealth.de
Nicole VasilevskyUniversity of Colorado Anschutz Medical CampusVerified email at tislab.org
Georgios GkoutosUniversity of Birmingham, College of Medical and Dental SciencesVerified email at bham.ac.uk
Malte SpielmannInstitute of Human Genetics, University of LübeckVerified email at uw.edu
Ana RathDirector Inserm US14 OrphanetVerified email at inserm.fr
Cynthia L. SmithThe Jackson LaboratoryVerified email at jax.org
Kai WangChildren's Hospital of PhiladelphiaVerified email at email.chop.edu
William Paul BoneGenomics and Computational Biology Graduate Student, University of PennsylvaniaVerified email at pennmedicine.upenn.edu
Helen ParkinsonEuropean Bioinformatics Institute - Head of Knowledge Management Section, Team LeaderVerified email at ebi.ac.uk
Nomi L. HarrisLawrence Berkeley National LaboratoryVerified email at lbl.gov
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 Sanger InstituteVerified email at sanger.ac.uk

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	1174	2008
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	842	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	827	2014
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	667	2017
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	489	2019
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	443	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	357	2010
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	300	2014
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	227	2015
The Human Phenotype Ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021	225	2021
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	225	2017
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	222	2014
Finding our way through phenotypes AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ... PLoS biology 13 (1), e1002033, 2015	200	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	196	2016
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	189	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	142	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	118	2013
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ... Nucleic acids research 48 (D1), D704-D715, 2020	108	2020
How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature Reviews Drug Discovery 19 (2), 77-78, 2020	98	2020
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	88	2009

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