Sebastian Köhler
Sebastian Köhler
Senior Information Architect, Ada Health; Member of Monarch Initiative
Verified email at ada.com - Homepage
Title
Cited by
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
10702008
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
7322014
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
7232008
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
5282017
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
3782009
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
3402010
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
2732019
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
2522014
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
1962014
Finding our way through phenotypes
AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ...
PLoS Biol 13 (1), e1002033, 2015
1732015
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
1692017
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
1572015
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
1542015
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
1452016
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
1202014
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
1072013
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
832009
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
792016
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
782013
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
702014
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