Author details

Full Name

Gudmundur A Thorisson

Affiliation

University of Leicester, University Road

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37937776	Actionable Genotypes and Their Association with Life Span in Iceland.	N Engl J Med	2023
30361506	A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.	Nat Commun	2018
29137621	COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.	BMC Med Genet	2017
28965491	Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.	BMC Med Genet	2017
23634721	Quantifying the use of bioresources for promoting their sharing in scientific research.	Gigascience	2013
22416047	Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information.	Hum Mutat	2012
23244533	Semantically enabling a genome-wide association study database.	J Biomed Semantics	2012
23031277	VarioML framework for comprehensive variation data representation and exchange.	BMC Bioinformatics	2012
21438073	An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research.	Hum Mutat	2011
21614086	The role of a bioresource research impact factor as an incentive to share human bioresources.	Nat Genet	2011
20627863	Finding and sharing: new approaches to registries of databases and services for the biomedical sciences.	Database (Oxford)	2010
21210979	The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button.	BMC Bioinformatics	2010
18948288	HGVbaseG2P: a central genetic association database.	Nucleic Acids Res	2009
19898446	Accreditation and attribution in data sharing.	Nat Biotechnol	2009
19479963	The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.	Hum Mutat	2009
19144180	BioMart--biological queries made easy.	BMC Genomics	2009
19065136	Genotype-phenotype databases: challenges and solutions for the post-genomic era.	Nat Rev Genet	2009
17943122	A second generation human haplotype map of over 3.1 million SNPs.	Nature	2007
17943131	Genome-wide detection and characterization of positive selection in human populations.	Nature	2007
16251469	The International HapMap Project Web site.	Genome Res	2005
12519964	The SNP Consortium website: past, present and future.	Nucleic Acids Res	2003
12519966	WormBase: a cross-species database for comparative genomics.	Nucleic Acids Res	2003

1 - 22 of 22

David Bujold

McGill University

Career Start Year 2016

Number of shared co-authors 12

Mamana Mbiyavanga

University of Cape Town

Career Start Year 2015

Number of shared co-authors 5

Jordi Rambla

Universitat Pompeu Fabra

Career Start Year 2015

Number of shared co-authors 12

Mark Thompson

Leiden University Medical Center

Career Start Year 2014

Number of shared co-authors 5

John D Spalding

European Bioinformatics Institute

Career Start Year 2013

Number of shared co-authors 12

Giselle Kerry

European Bioinformatics Institute

Career Start Year 2013

Number of shared co-authors 13

Kent Shefchek

University of Colorado Anschutz Medical Campus

Career Start Year 2012

Number of shared co-authors 2

Jose Luis Ambite

University of Southern California

Career Start Year 2010

Number of shared co-authors 5

Konrad J Karczewski

Broad Institute of MIT and Harvard

Career Start Year 2010

Number of shared co-authors 18

William S Bush

Cleveland Institute for Computational Biology, Case Western Reserve University

Career Start Year 2006

Number of shared co-authors 8

Janey Wang

Vanderbilt University Medical Center

Career Start Year 2005

Number of shared co-authors 0

Anthony A Philippakis

Broad Institute of Harvard and the Massachusetts Institute of Technology

Career Start Year 2004

Number of shared co-authors 26

Andrew R Jackson

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 20

Justin Paschall

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2004

Number of shared co-authors 12

Erin M Ramos

National Human Genome Research Institute

Career Start Year 2004

Number of shared co-authors 20

Dominik Seelow

Berliner Institut fur Gesundheitsforschung - Charite

Career Start Year 2002

Number of shared co-authors 4

Andrew I Su

The Scripps Research Institute

Career Start Year 2001

Number of shared co-authors 5

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 6

Serena Scollen

Pfizer Ltd

Career Start Year 2000

Number of shared co-authors 19

Tony Burdett

European Bioinformatics Institute

Career Start Year 2000

Number of shared co-authors 17

Lynn M Schriml

University of Maryland School of Medicine, Institute for Genome Sciences

Career Start Year 1998

Number of shared co-authors 17

Nicole L Washington

Renaissance Computing Institute, University of North Carolina

Career Start Year 1997

Number of shared co-authors 17

Michael R Barnes

William Harvey Research Institute, Queen Mary University of London

Career Start Year 1997

Number of shared co-authors 19

Heidi L Rehm

The Broad Institute of MIT and Harvard

Career Start Year 1996

Number of shared co-authors 37

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

Career Start Year 1996

Number of shared co-authors 35

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Career Start Year 1995

Number of shared co-authors 27

Huaqin Pan

and Translational Research Center

Career Start Year 1994

Number of shared co-authors 29

Kei-Hoi Cheung

Yale University School of Medicine