Sebastian Köhler
Sebastian Köhler
Information Architect, Ada; Member of Monarch Initiative
Email verificata su ada.com - Home page
TitoloCitata daAnno
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
9572008
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
6642014
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
6282008
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
4302017
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
3282010
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
3152009
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
2252014
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
1752014
Finding our way through phenotypes
AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ...
PLoS biology 13 (1), 2015
1532015
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
1312015
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
1192016
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
1192015
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
1112017
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
1012014
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
982019
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
942013
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
772013
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
752009
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
652016
MouseFinder: candidate disease genes from mouse phenotype data
CK Chen, CJ Mungall, GV Gkoutos, SC Doelken, S Köhler, BJ Ruef, ...
Human mutation 33 (5), 858-866, 2012
562012
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