Author details

Full Name

Jing Yu

Affiliation

University of Oxford

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36411030	Conclusion of diagnostic odysseys due to inversions disrupting <i>GLI3</i> and <i>FBN1</i>.	J Med Genet	2023
34751625	Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.	Ophthalmic Genet	2022
35764379	Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.	J Med Genet	2022
36011334	Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.	Genes (Basel)	2022
34440414	An Overview of the Genetics of <i>ABCA4</i> Retinopathies, an Evolving Story.	Genes (Basel)	2021
34988368	The role of multimodal imaging and vision function testing in <i>ABCA4</i>-related retinopathies and their relevance to future therapeutic interventions.	Ther Adv Ophthalmol	2021
32239196	Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.	JAMA Ophthalmol	2020
33243271	The genetic landscape of crystallins in congenital cataract.	Orphanet J Rare Dis	2020
30210231	Novel homozygous splicing mutations in <i>ARL2BP</i> cause autosomal recessive retinitis pigmentosa.	Mol Vis	2018
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
28363849	Unravelling the genetics of inherited retinal dystrophies: Past, present and future.	Prog Retin Eye Res	2017
28334266	Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.	Bioinformatics	2017
28633344	Pheno4J: a gene to phenotype graph database.	Bioinformatics	2017
28017370	De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.	Am J Hum Genet	2017
27166748	Correction: Elucidation of the RamA Regulon in Klebsiella pneumoniae Reveals a Role in LPS Regulation.	PLoS Pathog	2016
25633080	Elucidation of the RamA regulon in Klebsiella pneumoniae reveals a role in LPS regulation.	PLoS Pathog	2015
25140579	Molecular basis of non-mutational derepression of ramA in Klebsiella pneumoniae.	J Antimicrob Chemother	2014
23405357	Genome Sequence of Klebsiella pneumoniae Ecl8, a Reference Strain for Targeted Genetic Manipulation.	Genome Announc	2013
22958399	Tigecycline challenge triggers sRNA production in Salmonella enterica serovar Typhimurium.	BMC Microbiol	2012
20525790	The RdgC protein employs a novel mechanism involving a finger domain to bind to circular DNA.	Nucleic Acids Res	2010
17308310	Ring structure of the Escherichia coli DNA-binding protein RdgC associated with recombination and replication fork repair.	J Biol Chem	2007

1 - 21 of 21

James Fitch

The Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2015

Number of shared co-authors 0

Mathieu Quinodoz

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 2014

Number of shared co-authors 6

Manuel Holtgrewe

Berlin Institute of Health

Career Start Year 2011

Number of shared co-authors 10

Erika Souche

Center for Human Genetics

Career Start Year 2010

Number of shared co-authors 4

Henrik Stranneheim

Karolinska Institutet

Career Start Year 2009

Number of shared co-authors 3

Nagarajan Paramasivam

National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ)

Career Start Year 2009

Number of shared co-authors 0

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 21

Arthur Wuster

Genentech Inc.

Career Start Year 2008

Number of shared co-authors 0

Ryan Tewhey

University of Maine

Career Start Year 2007

Number of shared co-authors 0

Irina R Tikhonova

School of Pharmacy, Queen's University Belfast

Career Start Year 2006

Number of shared co-authors 0

Vladimir Vacic

Stanley Institute for Cognitive Genomics

Career Start Year 2005

Number of shared co-authors 1

Robert Huether

Division of Clinical Genomics

Career Start Year 2005

Number of shared co-authors 2

Huaiyang Jiang

Magee-Womens Research Institute, University of Pittsburgh

Career Start Year 2004

Number of shared co-authors 0

Lachlan J M Coin

The Peter Doherty Institute for Infection and Immunity, The University of Melbourne

Career Start Year 2003

Number of shared co-authors 3

David Marciano

Stanford Cardiovascular Institute (L.W., Stanford University School of Medicine

Career Start Year 2003

Number of shared co-authors 0

Jean Muller

INSERM, Universite de Strasbourg

Career Start Year 2003

Number of shared co-authors 4

Fiona Cunningham

European Bioinformatics Institute

Career Start Year 2003

Number of shared co-authors 19

Harm van Bakel

Icahn School of Medicine at Mount Sinai

Career Start Year 2002

Number of shared co-authors 0

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 7

Karsten Hokamp

Smurfit Institute of Genetics, Trinity College of Dublin

Career Start Year 1999

Number of shared co-authors 1

Terry A Braun

University of Iowa

Career Start Year 1999

Number of shared co-authors 2

Carlo Rivolta

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 1997

Number of shared co-authors 11

Elizabeth A Worthey

Heersink School of Medicine, The University of Alabama at Birmingham

Career Start Year 1995

Number of shared co-authors 3

Steven E Brenner

University of California berkeley

Career Start Year 1994

Number of shared co-authors 6

Mark D Adams

Case Western Reserve University School of Medicine

Career Start Year 1989

Number of shared co-authors 1

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 4

Richard A Gibbs

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 14

James R Lupski

Baylor College of Medicine

Career Start Year 1981

Number of shared co-authors 20

George M Church

Harvard Medical School

Career Start Year 1977

Number of shared co-authors 0

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 13

row(s) 1 - 30 of 30

Nikolas Pontikos

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

Co-authored papers 5

Andrea H N??meth

University of Oxford

Co-authored papers 3

Daniel Greene

University of Cambridge

Co-authored papers 2

Joseph S Elborn

Co-authored papers 2

Tom Vulliamy

Blizard Institute, Queen Mary University of London

Co-authored papers 2

Michel Michaelides

Institute of Ophthalmology, University College London

Co-authored papers 2

Andrew R Webster

Institute of Ophthalmology, University College London

Co-authored papers 2

Gavin Arno

Institute of Ophthalmology, University College London

Co-authored papers 2

Julius O B Jacobsen

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

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 1

Laureen E Connell

Co-authored papers 1

Soichi Ogishima

Tohoku University Graduate School of Medicine

Co-authored papers 1

Rita Horvath

School of Clinical Medicine, University of Cambridge

Co-authored papers 1

Philip Twiss

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 1