Sebastian Köhler

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i10-indeks	62	51

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Suautori

Peter RobinsonProfessor of Computational Biology, The Jackson Laboratory for Genomic MedicinePotvrđena adresa e-pošte na jax.org
Christopher J MungallLawrence Berkeley National LaboratoryPotvrđena adresa e-pošte na lbl.gov
Damian SmedleyQueen Mary University of LondonPotvrđena adresa e-pošte na qmul.ac.uk
Melissa HaendelUniversity of Colorado Anschutz Medical CampusPotvrđena adresa e-pošte na tislab.org
Suzanna LewisLawrence Berkeley National LaboratoryPotvrđena adresa e-pošte na lbl.gov
Marcel H SchulzProfessor of Computational Biology, Goethe University Frankfurt, GermanyPotvrđena adresa e-pošte na em.uni-frankfurt.de
Tudor GrozaEuropean Bioinformatics InstitutePotvrđena adresa e-pošte na ebi.ac.uk
Nicole VasilevskyCritical Path InstitutePotvrđena adresa e-pošte na tislab.org
Georgios GkoutosUniversity of Birmingham, College of Medical and Dental SciencesPotvrđena adresa e-pošte na bham.ac.uk
Malte SpielmannInstitute of Human Genetics, University of LübeckPotvrđena adresa e-pošte na uw.edu
Ana RathDirector Inserm US14 OrphanetPotvrđena adresa e-pošte na inserm.fr
Cynthia L. SmithThe Jackson LaboratoryPotvrđena adresa e-pošte na jax.org
Kai WangChildren's Hospital of PhiladelphiaPotvrđena adresa e-pošte na email.chop.edu
William Paul BoneGenomics and Computational Biology Graduate Student, University of PennsylvaniaPotvrđena adresa e-pošte na pennmedicine.upenn.edu
Courtney L ThaxtonResearch Assistant Professor, University of North Carolina at Chapel HillPotvrđena adresa e-pošte na med.unc.edu
Helen ParkinsonEuropean Bioinformatics Institute - Head of Knowledge Management Section, Team LeaderPotvrđena adresa e-pošte na ebi.ac.uk
Heidi RehmHarvard Medical School, Brigham & Women's Hospital, Broad InstitutePotvrđena adresa e-pošte na partners.org
Tudor OpreaCEO, Expert Systems IncPotvrđena adresa e-pošte na expertsystems.inc
Deepak UnniScientific Coordinator, Swiss Institute of Bioinformatics, Basel, SwitzerlandPotvrđena adresa e-pošte na sib.swiss
Cristian BologaResearch Professor, University of New MexicoPotvrđena adresa e-pošte na salud.unm.edu

Prati

Sebastian Köhler

Expert Information Architect, Ada Health; Member of Monarch Initiative

Potvrđena adresa e-pošte na ada.com - Početna stranica

Knowledge representation Biomedical informatics Ontology Genomics Complex Networks


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
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	1284	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	961	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	889	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	748	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	617	2019
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	582	2021
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	502	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	367	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	340	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	306	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	284	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	258	2014
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	242	2016
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	224	2020
Finding our way through phenotypes AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ... PLoS biology 13 (1), e1002033, 2015	214	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	212	2015
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	169	2020
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	164	2014
Characterizing long COVID: deep phenotype of a complex condition RR Deer, MA Rock, N Vasilevsky, L Carmody, H Rando, AJ Anzalone, ... EBioMedicine 74, 2021	135	2021
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	127	2013

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