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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
11672008
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
8332008
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
8172014
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
6882017
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
4732019
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
4352009
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
3572010
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
2902014
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
2182015
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
2182014
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
2172017
Finding our way through phenotypes
AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ...
PLoS biology 13 (1), e1002033, 2015
1982015
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
1892016
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
1832015
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
1552021
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
1372014
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
1162013
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
992020
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
892020
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
872016
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