Author details

Full Name

Orion J Buske

Affiliation

The Hospital for Sick Children

ORCID

Career Start Year

2010

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37161573	Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.	Orphanet J Rare Dis	2023
37161573	Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.	Orphanet J Rare Dis	2023
35165961	PhenomeCentral: 7 years of rare disease matchmaking.	Hum Mutat	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
35181971	Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.	Hum Mutat	2022
35165961	PhenomeCentral: 7 years of rare disease matchmaking.	Hum Mutat	2022
35305867	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.	Genet Med	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
35181971	Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.	Hum Mutat	2022
35305867	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.	Genet Med	2022
35072136	GA4GH: International policies and standards for data sharing across genomic research and healthcare.	Cell Genom	2021
35072136	GA4GH: International policies and standards for data sharing across genomic research and healthcare.	Cell Genom	2021
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
30173820	PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.	Am J Hum Genet	2018
30173820	PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.	Am J Hum Genet	2018
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
29044468	Matchmaker Exchange.	Curr Protoc Hum Genet	2017
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
29044468	Matchmaker Exchange.	Curr Protoc Hum Genet	2017
27159559	Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.	Nat Struct Mol Biol	2016
27159559	Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.	Nat Struct Mol Biol	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
25488928	Identification of deleterious synonymous variants in human genomes.	Bioinformatics	2015
25488928	Identification of deleterious synonymous variants in human genomes.	Bioinformatics	2015
26562621	Next-generation diagnostics and disease-gene discovery with the Exomiser.	Nat Protoc	2015
26255989	The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.	Hum Mutat	2015
26251998	PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.	Hum Mutat	2015
26295439	The Matchmaker Exchange: a platform for rare disease gene discovery.	Hum Mutat	2015
26239817	The genomic birthday paradox: how much is enough?	Hum Mutat	2015
26251998	PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.	Hum Mutat	2015
26562621	Next-generation diagnostics and disease-gene discovery with the Exomiser.	Nat Protoc	2015
26295439	The Matchmaker Exchange: a platform for rare disease gene discovery.	Hum Mutat	2015
26255989	The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.	Hum Mutat	2015
26239817	The genomic birthday paradox: how much is enough?	Hum Mutat	2015
23204306	iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data.	Genome Res	2013
23204306	iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data.	Genome Res	2013
23736532	Identification of deleterious synonymous variants in human genomes.	Bioinformatics	2013
23736532	Identification of deleterious synonymous variants in human genomes.	Bioinformatics	2013
22426492	Unsupervised pattern discovery in human chromatin structure through genomic segmentation.	Nat Methods	2012
22426492	Unsupervised pattern discovery in human chromatin structure through genomic segmentation.	Nat Methods	2012
22029426	Exploratory analysis of genomic segmentations with Segtools.	BMC Bioinformatics	2011
22029426	Exploratory analysis of genomic segmentations with Segtools.	BMC Bioinformatics	2011
20435580	The Genomedata format for storing large-scale functional genomics data.	Bioinformatics	2010
20435580	The Genomedata format for storing large-scale functional genomics data.	Bioinformatics	2010

1 - 46 of 46

Kymberleigh A Pagel

The Institute for Computational Medicine, The Johns Hopkins University

Career Start Year 2016

Number of shared co-authors 8

Amin Ardeshirdavani

STADIUS Center for Dynamical Systems

Career Start Year 2013

Number of shared co-authors 9

Ben Weisburd

Broad Institute of MIT and Harvard

Career Start Year 2012

Number of shared co-authors 12

Ryan M Layer

Boulder and BioFrontiers Institute, University of Colorado Boulder

Career Start Year 2011

Number of shared co-authors 1

Konrad J Karczewski

Broad Institute of MIT and Harvard

Career Start Year 2010

Number of shared co-authors 17

Matthew S Lebo

Harvard Medical School, Brigham and Women's Hospital

Career Start Year 2009

Number of shared co-authors 19

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 33

Martin Kircher

Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin

Career Start Year 2008

Number of shared co-authors 10

Jeffrey G Reid

Regeneron Pharmaceuticals, Inc.

Career Start Year 2007

Number of shared co-authors 9

Fereydoun Hormozdiari

University of California davis

Career Start Year 2007

Number of shared co-authors 10

Aaron R Quinlan

University of Utah

Career Start Year 2007

Number of shared co-authors 5

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 13

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 12

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 16

Andrew R Jackson

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 12

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 59

Vikas Bansal

University of California San Diego

Career Start Year 2004

Number of shared co-authors 0

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 22

Fuli Yu

East China University of Science and Technology

Career Start Year 2002

Number of shared co-authors 8

Yufeng Shen

Columbia University

Career Start Year 2002

Number of shared co-authors 12

Brent S Pedersen

Center for Molecular Medicine, University Medical Center Utrecht

Career Start Year 2001

Number of shared co-authors 2

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 16

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 33

Kai Wang

University of Pennsylvania

Career Start Year 2001

Number of shared co-authors 40

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2000

Number of shared co-authors 19

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 25

Eric Banks

Broad Institute of MIT and Harvard

Career Start Year 1999

Number of shared co-authors 9

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 22

Mark Yandell

University of Utah

Career Start Year 1994

Number of shared co-authors 25

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 42

row(s) 1 - 30 of 30

Michael Brudno

University of Toronto

Co-authored papers 13

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 9

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 9

Melissa A Haendel

Co-authored papers 9

Julius O B Jacobsen

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 7

Kym M Boycott

Children's Hospital of Eastern Ontario

Co-authored papers 6

Christopher J Mungall

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

Co-authored papers 6

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 5

Tudor Groza

Perth Children's Hospital

Co-authored papers 5

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 5

Marta Girdea

DATA Team and Techna Institute, University Health Network