Author details

Full Name

Julius O B Jacobsen

Affiliation

William Harvey Research Institute, Queen Mary University of London

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38000386	The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genesÂ and diseases across species.	Nucleic Acids Res	2024
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
37196000	Phenopacket-tools: Building and validating GA4GH Phenopackets.	PLoS One	2023
36910590	GA4GH Phenopackets: A Practical Introduction.	Adv Genet (Hoboken)	2022
35442193	The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.	Genet Med	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
35391505	Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.	Hum Mutat	2022
35595299	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.	Brief Bioinform	2022
35484572	SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.	Genome Med	2022
34289339	Interpretable prioritization of splice variants in diagnostic next-generation sequencing.	Am J Hum Genet	2021
35072136	GA4GH: International policies and standards for data sharing across genomic research and healthcare.	Cell Genom	2021
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
34739835	Interpretable prioritization of splice variants in diagnostic next-generation sequencing.	Am J Hum Genet	2021
32340307	An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.	Genes (Basel)	2020
32755546	Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.	Am J Hum Genet	2020
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
30240502	matchbox: An open-source tool for patient matching via the Matchmaker Exchange.	Hum Mutat	2018
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
28334266	Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.	Bioinformatics	2017
29044468	Matchmaker Exchange.	Curr Protoc Hum Genet	2017
28650483	Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.	Nat Genet	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
27516611	Navigating the Phenotype Frontier: The Monarch Initiative.	Genetics	2016
25992600	Applying the ARRIVE Guidelines to an In Vivo Database.	PLoS Biol	2015
26562621	Next-generation diagnostics and disease-gene discovery with the Exomiser.	Nat Protoc	2015
26314589	A mouse informatics platform for phenotypic and translational discovery.	Mamm Genome	2015
26092691	Disease insights through cross-species phenotype comparisons.	Mamm Genome	2015
24319146	The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymes.	Nucleic Acids Res	2014
24932005	Using association rule mining to determine promising secondary phenotyping hypotheses.	Bioinformatics	2014
23203869	SIFTS: Structure Integration with Function, Taxonomy and Sequences resource.	Nucleic Acids Res	2013
23175605	The EBI enzyme portal.	Nucleic Acids Res	2013
22877863	BioJava: an open-source framework for bioinformatics in 2012.	Bioinformatics	2012

1 - 35 of 35

Binglan Li

Stanford University

Career Start Year 2018

Number of shared co-authors 2

Marco Carraro

Hematology and Clinical Immunology Unit, University of Padova

Career Start Year 2017

Number of shared co-authors 6

Kymberleigh A Pagel

The Institute for Computational Medicine, The Johns Hopkins University

Career Start Year 2016

Number of shared co-authors 9

Sergiu Dumitriu

DATA Team and Techna Institute, University Health Network

Career Start Year 2013

Number of shared co-authors 31

Amin Ardeshirdavani

STADIUS Center for Dynamical Systems

Career Start Year 2013

Number of shared co-authors 13

Rebecca Truty

Invitae Corporation

Career Start Year 2012

Number of shared co-authors 6

Scott Topper

Invitae Corporation

Career Start Year 2011

Number of shared co-authors 5

Konrad J Karczewski

Broad Institute of MIT and Harvard

Career Start Year 2010

Number of shared co-authors 29

Vikas Pejaver

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

Career Start Year 2010

Number of shared co-authors 12

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 37

Lisa Bastarache

Vanderbilt University Medical Center

Career Start Year 2009

Number of shared co-authors 7

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 56

Matthew S Lebo

Harvard Medical School, Brigham and Women's Hospital

Career Start Year 2009

Number of shared co-authors 18

Eric Venner

Baylor College of Medicine

Career Start Year 2009

Number of shared co-authors 6

Angela Del Pozo

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

Career Start Year 2008

Number of shared co-authors 13

Jeffrey G Reid

Regeneron Pharmaceuticals, Inc.

Career Start Year 2007

Number of shared co-authors 18

Daniel M Jordan

Icahn School of Medicine at Mount Sinai

Career Start Year 2007

Number of shared co-authors 9

Mark J Cowley

Children's Cancer Institute, Lowy Cancer Research Centre

Career Start Year 2006

Number of shared co-authors 25

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 21

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 16

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 20

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 67

Sek Won Kong

Boston Children's Hospital, Seoul National University, Seoul National University Hospital

Career Start Year 2003

Number of shared co-authors 3

Sarah A Pendergrass

Biomedical and Translational Informatics Institute

Career Start Year 2003

Number of shared co-authors 9

Yufeng Shen

Columbia University

Career Start Year 2002

Number of shared co-authors 16

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 27

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 43

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 29

Eric Banks

Broad Institute of MIT and Harvard

Career Start Year 1999

Number of shared co-authors 15

Rachel Karchin

Johns Hopkins University

Career Start Year 1998

Number of shared co-authors 13

row(s) 1 - 30 of 30

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 24

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 23

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 22

Melissa A Haendel

Co-authored papers 21

Christopher J Mungall

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

Co-authored papers 16

Julie A McMurry

University of Colorado - Anschutz Medical Campus

Co-authored papers 13

Tudor Groza

Perth Children's Hospital

Co-authored papers 12

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 11

Daniel Danis

Biomedical Research Center, Slovak Academy of Sciences

Co-authored papers 11

Nicole Vasilevsky

Critical Path Institute

Co-authored papers 10

Michael Gargano

Co-authored papers 8

Nicole L Washington

Renaissance Computing Institute, University of North Carolina

Co-authored papers 8

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 7

Orion J Buske

The Hospital for Sick Children

Co-authored papers 7

Leigh C Carmody

Center for the Science of Therapeutics, Broad Institute of MIT and Harvard

Co-authored papers 7

Monica C Munoz-Torres

University of Colorado Anschutz Medical Campus

Co-authored papers 6

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 5

Nikolas Pontikos

Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London

Co-authored papers 5

Nomi L Harris

Lawrence Berkely National Laboratory, Massachusetts Institute of Technology, Princeton University

Co-authored papers 5

Jean-Philippe Gourdine

Oregon Health & Science University

Co-authored papers 4

Alex H Wagner

Iowa State University, Mayo Clinic, Nationwide Children's Hospital, The Ohio State University College of Medicine, University of Iowa, Washington University in Saint Louis

Co-authored papers 4

Matthew H Brush

University of Colorado Anschutz Medical Campus

Co-authored papers 4

Bryan Laraway

University of Colorado Anschutz Medical Campus

Co-authored papers 4

Helen Parkinson

European Bioinformatics Institute

Co-authored papers 4

Michael Brudno

University of Toronto