Sebastian Köhler

发表

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

Damian Smedley, Peter N. Robinson, Chris Mungall, 2013, Database J. Biol. Databases Curation.

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Jana Marie Schwarz, S. Köhler, D. Seelow, 2019, Nucleic Acids Res..

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Damian Smedley, Michael Brudno, Julius O. B. Jacobsen, 2015, Genetics in Medicine.

Walking the interactome for prioritization of candidate disease genes.

P. Robinson, S. Köhler, Sebastian Bauer, 2008, American journal of human genetics.

The Human Phenotype Ontology in 2021

Christopher G Chute, Damian Smedley, Yongqun He, 2020, Nucleic Acids Res..

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Giorgio Valentini, Tudor Groza, Harry Hochheiser, 2016, American journal of human genetics.

The influence of disease categories on gene candidate predictions from model organism phenotypes

S. Lewis, D. Smedley, S. Köhler, 2014, J. Biomed. Semant..

MouseFinder: Candidate disease genes from mouse phenotype data

Damian Smedley, Monte Westerfield, Sebastian Köhler, 2012, Human mutation.

Finding Our Way through Phenotypes

Laura M. Jackson, Paula M. Mabee, Carolyn J. Lawrence, 2015, PLoS biology.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Damian Smedley, Yves Moreau, Melissa Haendel, 2014, Science Translational Medicine.

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

Tudor Groza, Harry Hochheiser, Damian Smedley, 2016, bioRxiv.

Navigating the Phenotype Frontier: The Monarch Initiative

Tudor Groza, Harry Hochheiser, Damian Smedley, 2016, Genetics.

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

Damian Smedley, Peter N. Robinson, Sebastian Köhler, 2014, Bioinform..

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Tudor Groza, Damian Smedley, Simon Jupp, 2019, Nucleic Acids Res..

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

Next-generation diagnostics and disease-gene discovery with the Exomiser

Damian Smedley, Julius O. B. Jacobsen, Enrico Siragusa, 2015, Nature Protocols.

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

Damian Smedley, Sebastian Bauer, Monte Westerfield, 2013, F1000Research.

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions

Sebastian Bauer, Angelika Pletschacher, Peter N. Robinson, 2010, Nucleic acids research.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

Damian Smedley, Paul N. Schofield, Sebastian Bauer, 2012, Disease Models & Mechanisms.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

P. Robinson, S. Köhler, Sebastian Bauer, 2008, American journal of human genetics.

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

Marcel H. Schulz, Peter N. Robinson, S. Köhler, 2009, American journal of human genetics.

Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora

Nigel Collier, Tudor Groza, Damian Smedley, 2015, Database J. Biol. Databases Curation.

M. Hanauer, A. Rath, D. Lagorce, 2023, European journal of human genetics : EJHG.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Exact Score Distribution Computation for Similarity Searches in Ontologies

Martin Vingron, Marcel H. Schulz, Sebastian Bauer, 2009, WABI.

Finding Our Way Through Phenotypes

Laura M. Jackson, Paula M. Mabee, Katja C. Seltmann, 2019 .

Perspective Finding Our Way through Phenotypes

Laura M. Jackson, Paula M. Mabee, Katja C. Seltmann, 2014 .

Ontological phenotype standards for neurogenetics

P. Robinson, A. Rath, S. Doelken, 2012, Human mutation.

Enhancing the Human Phenotype Ontology for Use by the Layperson

Peter N. Robinson, Chris Mungall, Melissa Haendel, 2016, ICBO/BioCreative.

Improved exome prioritization of disease genes through cross-species phenotype comparison

Damian Smedley, Sebastian Bauer, Melissa Haendel, 2014, Genome research.

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery

Jean-Philippe F Gourdine, Matthew H Brush, Nicole A Vasilevsky, 2019, Database J. Biol. Databases Curation.

The Mouseion at the JAXlibrary The Mouseion at the JAXlibrary

Xingmin Aaron Zhang, Matthew H. Brush, N. Vasilevsky, 2022 .

uPheno 2: Framework for standardised representation of phenotypes across species

Yvonne M. Bradford, Christian A. Grove, Sofia M. C. Robb, 2019 .

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

Disease insights through cross-species phenotype comparisons

Julius O. B. Jacobsen, Matthew H. Brush, Peter N. Robinson, 2015, Mammalian Genome.

A Collection of Benchmark Data Sets for Knowledge Graph-based Similarity in the Biomedical Domain

Catia Pesquita, Sebastian Köhler, Carlota Cardoso, 2020, ESWC.

Rothamsted Repository Download

Zoe May Pendlington, Julius O. B. Jacobsen, Matthew H. Brush, 2022 .

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

Julius O. B. Jacobsen, Matthew H. Brush, Charles D. Borromeo, 2016, bioRxiv.

A Hierarchical Ensemble Method for DAG-Structured Taxonomies

Giorgio Valentini, Peter N. Robinson, Sebastian Köhler, 2015, MCS.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Sebastian Bauer, Sebastian Köhler, Christian Rödelsperger, 2010, Nature Genetics.

Characterizing Long COVID: Deep Phenotype of a Complex Characterizing Long COVID: Deep Phenotype of a Complex Condition [preprint] Condition [preprint]

U. Topaloglu, R. Moffitt, N. Vasilevsky, 2022 .

How many rare diseases are there?

Tudor I. Oprea, Peter N. Robinson, S. Köhler, 2019, Nature Reviews Drug Discovery.

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

Peter N. Robinson, S. Lewis, H. Parkinson, 2015, American journal of human genetics.

Improved ontology-based similarity calculations using a study-wise annotation model

Sebastian Köhler, Sebastian Köhler, 2018, Database J. Biol. Databases Curation.

The Human Phenotype Ontology in 2024: phenotypes around the world

Benjamin M. Gyori, Julius O. B. Jacobsen, Janice M. Fullerton, 2023, Nucleic acids research.

Phenotero: annotate as you write

Sebastian Köhler, Daniela Hombach, Jana Marie Schwarz, 2018, bioRxiv.

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Peter N. Robinson, S. Lewis, M. Hurles, 2014, Genome Biology.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

Julius O. B. Jacobsen, Michael A. Gargano, Peter N. Robinson, 2021, medRxiv.

Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology

Giorgio Valentini, Peter N. Robinson, Sebastian Köhler, 2015, IWBBIO.

Harmonising phenomics information for a better interoperability in the rare disease field.

Peter N. Robinson, H. Parkinson, S. Köhler, 2018, European journal of medical genetics.