Author details

Full Name

Sebastian K??hler

Affiliation

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37926714	Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.	Eur J Hum Genet	2024
37926714	Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.	Eur J Hum Genet	2024
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
34141997	The revised Approved Instructional Resources score: An improved quality evaluation tool for online educational resources.	AEM Educ Train	2021
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
34141997	The revised Approved Instructional Resources score: An improved quality evaluation tool for online educational resources.	AEM Educ Train	2021
33181823	A Collection of Benchmark Data Sets for Knowledge Graph-based Similarity in the Biomedical Domain.	Database (Oxford)	2020
32020066	How many rare diseases are there?	Nat Rev Drug Discov	2020
33181823	A Collection of Benchmark Data Sets for Knowledge Graph-based Similarity in the Biomedical Domain.	Database (Oxford)	2020
32020066	How many rare diseases are there?	Nat Rev Drug Discov	2020
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
31735951	Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.	Database (Oxford)	2019
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
30417324	Phenotero: Annotate as you write.	Clin Genet	2019
31164752	PEDIA: prioritization of exome data by image analysis.	Genet Med	2019
31106382	RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.	Nucleic Acids Res	2019
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
31735951	Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.	Database (Oxford)	2019
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
31164752	PEDIA: prioritization of exome data by image analysis.	Genet Med	2019
31106382	RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.	Nucleic Acids Res	2019
30417324	Phenotero: Annotate as you write.	Clin Genet	2019
29310717	Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.	Genome Med	2018
30423059	An ontology-based method for assessing batch effect adjustment approaches in heterogeneous datasets.	Bioinformatics	2018
29995249	[From symptom to syndrome using modern software support].	Internist (Berl)	2018
29310717	Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.	Genome Med	2018
29425702	Harmonising phenomics information for a better interoperability in the rare disease field.	Eur J Med Genet	2018
29688377	Improved ontology-based similarity calculations using a study-wise annotation model.	Database (Oxford)	2018
29632381	Plain-language medical vocabulary for precision diagnosis.	Nat Genet	2018
29995249	[From symptom to syndrome using modern software support].	Internist (Berl)	2018
30423059	An ontology-based method for assessing batch effect adjustment approaches in heterogeneous datasets.	Bioinformatics	2018
29632381	Plain-language medical vocabulary for precision diagnosis.	Nat Genet	2018
29688377	Improved ontology-based similarity calculations using a study-wise annotation model.	Database (Oxford)	2018
29425702	Harmonising phenomics information for a better interoperability in the rare disease field.	Eur J Med Genet	2018
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
27899636	The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.	Nucleic Acids Res	2017
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
28293716	[Diagnostics in human genetics : Integration of phenotypic and genomic data].	Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz	2017
28293716	[Diagnostics in human genetics : Integration of phenotypic and genomic data].	Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz	2017
27899636	The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.	Nucleic Acids Res	2017
27569544	A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.	Am J Hum Genet	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
27569544	A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.	Am J Hum Genet	2016
27516611	Navigating the Phenotype Frontier: The Monarch Initiative.	Genetics	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
27516611	Navigating the Phenotype Frontier: The Monarch Initiative.	Genetics	2016

1 - 50 of 108

Maxat Kulmanov

King Abdullah University of Science and Technology.

Career Start Year 2017

Number of shared co-authors 3

Imane Boudellioua

King Fahd University of Petroleum and Minerals

Career Start Year 2016

Number of shared co-authors 3

Milton Pividori

Perelman School of Medicine, University of Pennsylvania

Career Start Year 2016

Number of shared co-authors 0

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 21

Sergiu Dumitriu

DATA Team and Techna Institute, University Health Network

Career Start Year 2013

Number of shared co-authors 30

Fran??ois Schiettecatte

FS Consulting LLC

Career Start Year 2013

Number of shared co-authors 24

Tristan Nelson

Genomic Medicine Institute

Career Start Year 2012

Number of shared co-authors 23

Alfonso E Romero

University of Miami

Career Start Year 2012

Number of shared co-authors 5

Feichen Shen

Shanghai Polytechnic University

Career Start Year 2012

Number of shared co-authors 3

Vikas Pejaver

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai

Career Start Year 2010

Number of shared co-authors 6

Cartik Kothari

Harvard Medical School

Career Start Year 2010

Number of shared co-authors 8

Lisa Bastarache

Vanderbilt University Medical Center

Career Start Year 2009

Number of shared co-authors 3

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 9

Wyatt T Clark

BioMarin Pharmaceutical Inc.

Career Start Year 2008

Number of shared co-authors 6

Louise C Daugherty

Queen Mary University of London, United Kingdom Healx Ltd

Career Start Year 2007

Number of shared co-authors 33

Robert Hoehndorf

King Abdullah University of Science and Technology

Career Start Year 2006

Number of shared co-authors 23

L??on-Charles Tranchevent

University of Luxembourg

Career Start Year 2006

Number of shared co-authors 6

Hai Fang

University of Bristol

Career Start Year 2006

Number of shared co-authors 7

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 13

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 34

Rebecca E Foulger

Queen Mary University of London

Career Start Year 2003

Number of shared co-authors 41

Fiona Cunningham

European Bioinformatics Institute

Career Start Year 2003

Number of shared co-authors 41

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 28

Andrew I Su

The Scripps Research Institute

Career Start Year 2001

Number of shared co-authors 14

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 17

Laura I Furlong

Hospital del Mar Research Institute (IMIM), Pompeu Fabra University (UPF)

Career Start Year 2000

Number of shared co-authors 9

Karen Eilbeck

University of Utah

Career Start Year 1999

Number of shared co-authors 47

Frederick P Roth

University of Toronto

Career Start Year 1998

Number of shared co-authors 5

Melissa S Cline

Genomics Institute, University of California Santa Cruz

Career Start Year 1997

Number of shared co-authors 21

Yves A Lussier

Center for Biomedical Informatics and Biostatistics, University of Arizona

Career Start Year 1971

Number of shared co-authors 5

row(s) 1 - 30 of 30

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 44

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 26

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 24

Melissa A Haendel

Co-authored papers 23

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 21

Suzanna E Lewis

Lawrence Berkeley National Laboratory

Co-authored papers 16

Tudor Groza

Perth Children's Hospital

Co-authored papers 14