Sebastian Köhler

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Peter RobinsonBerlin Institute of Health, Charité - Universitätsmedizin, Berlin, GermanyAdresse e-mail validée de bih-charite.de
Christopher J MungallLawrence Berkeley National LaboratoryAdresse e-mail validée de lbl.gov
Damian SmedleyQueen Mary University of LondonAdresse e-mail validée de qmul.ac.uk
Melissa HaendelUniversity of North CarolinaAdresse e-mail validée de tislab.org
Sebastian BauerAdresse e-mail validée de sebastianbauer.info
Suzanna LewisLawrence Berkeley National LaboratoryAdresse e-mail validée de lbl.gov
Tudor GrozaBioinformatics Institute, A*STARAdresse e-mail validée de bii.a-star.edu.sg
Marcel H SchulzProfessor of Computational Biology, Goethe University Frankfurt, GermanyAdresse e-mail validée de em.uni-frankfurt.de
Ana RathDirector Inserm US14 OrphanetAdresse e-mail validée de inserm.fr
Georgios GkoutosUniversity of Birmingham, College of Medical and Dental SciencesAdresse e-mail validée de bham.ac.uk
Malte SpielmannInstitute of Human Genetics, University of Lübeck & Kiel UniversityAdresse e-mail validée de uw.edu
Monte WesterfieldProfessor of Biology, University of OregonAdresse e-mail validée de uoregon.edu
Ada HamoshDr. Frank V. Sutland Professor of Genetic Medicine, Johns Hopkins UniversityAdresse e-mail validée de jhmi.edu
Cynthia L. SmithThe Jackson LaboratoryAdresse e-mail validée de jax.org
Courtney L ThaxtonResearch Assistant Professor, University of North Carolina at Chapel HillAdresse e-mail validée de med.unc.edu
Kai WangChildren's Hospital of PhiladelphiaAdresse e-mail validée de email.chop.edu
William Paul BoneGenomics and Computational Biology Graduate Student, University of PennsylvaniaAdresse e-mail validée de pennmedicine.upenn.edu
Helen ParkinsonEuropean Bioinformatics Institute - Head of Knowledge Management Section, Senior ScientistAdresse e-mail validée de ebi.ac.uk
Michael GarganoThe Jackson LaboratoryAdresse e-mail validée de jax.org
Tudor OpreaCEO, Expert Systems IncAdresse e-mail validée de expertsystems.inc

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Sebastian Köhler

Expert AI engineer, Ada Health; Member of Monarch Initiative

Adresse e-mail validée de ada.com - Page d'accueil

Knowledge representation Biomedical informatics Ontology LLMs Complex Networks


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	1369	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	1097	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	987	2017
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	947	2014
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	863	2021
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	742	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	580	2009
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	435	2020
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	398	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	393	2015
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	381	2010
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	319	2016
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	317	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	293	2014
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	244	2020
Finding our way through phenotypes AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ... PLoS biology 13 (1), e1002033, 2015	238	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	234	2015
Characterizing long COVID: deep phenotype of a complex condition RR Deer, MA Rock, N Vasilevsky, L Carmody, H Rando, AJ Anzalone, ... EBioMedicine 74, 2021	202	2021
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	180	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	149	2013

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