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Author Details

Richard Holt
Oxford Brookes University
2003
32
21
PMIDPaper TitleJournal TitlePublished Year
37092537Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.Genet Med2023
37586836Clinical, genetic and biochemical signatures of <i>RBP4</i>-related ocular malformations.J Med Genet2023
32885237Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.Hum Mol Genet2020
29464339New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Hum Genet2019
31402090De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.Am J Hum Genet2019
30842225<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia.J Med Genet2019
30762128Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Hum Genet2019
27170559A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14.Genes Immun2017
28801591New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.Sci Rep2017
27844144Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Hum Genet2017
27157923Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.Sci Rep2016
25579607Identification of rod- and cone-specific expression signatures to identify candidate genes for retinal disease.Exp Eye Res2015
26378653A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14.Genes Immun2015
25797088Author reply: To PMID 24480711.Ophthalmology2015
24480711Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.Ophthalmology2014
25188300Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.PLoS Genet2014
24768552Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.Am J Hum Genet2014
21996756A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.Hum Genet2012
23143461Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.Arch Ophthalmol2012
22843504Individual common variants exert weak effects on the risk for autism spectrum disorders.Hum Mol Genet2012
22549408CNVs leading to fusion transcripts in individuals with autism spectrum disorder.Eur J Hum Genet2012
22346768Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.PLoS Genet2012
21484199A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.J Neurodev Disord2011
21805639Links between genetics and pathophysiology in the autism spectrum disorders.EMBO Mol Med2011
21320718Allele-specific transcription of the asthma-associated PHD finger protein 11 gene (PHF11) modulated by octamer-binding transcription factor 1 (Oct-1).J Allergy Clin Immunol2011
20678249Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.Mol Autism2010
20442744Linkage and candidate gene studies of autism spectrum disorders in European populations.Eur J Hum Genet2010
20531469Functional impact of global rare copy number variation in autism spectrum disorders.Nature2010
20663923A genome-wide scan for common alleles affecting risk for autism.Hum Mol Genet2010
19002214MET and autism susceptibility: family and case-control studies.Eur J Hum Genet2009
12754510Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma.Nat Genet2003
14566338Positional cloning of a novel gene influencing asthma from chromosome 2q14.Nat Genet2003
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Collaborators

Anthony P Monaco
Monash University
Co-authored papers 13
Nicola K Ragge
Oxford Brookes University
Co-authored papers 9
Agatino Battaglia
Co-authored papers 8
Dalila Pinto
Icahn School of Medicine at Mount Sinai
Co-authored papers 8
Stephen W Scherer
The Hospital for Sick Children
Co-authored papers 8
Alistair T Pagnamenta
NIHR Biomedical Research Centre, University of Oxford
Co-authored papers 8
Catalina Betancur
Co-authored papers 8
Sabine M Klauck
Co-authored papers 8
Marion Leboyer
INSERM U
Co-authored papers 7
Patrick F Bolton
Co-authored papers 6
Louise Gallagher
Co-authored papers 6
Peter Szatmari
Hospital for Sick Children, University of Toronto
Co-authored papers 6
Christine M Freitag
Co-authored papers 6
Eftichia Duketis
Co-authored papers 6
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 5
John I Nurnberger
Stark Neurosciences Research Institute, Indiana University School of Medicine
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Geraldine Dawson
Co-authored papers 5
Jeremy R Parr
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Joachim Hallmayer
Stanford University School of Medicine
Co-authored papers 5
Stephen J Guter
Co-authored papers 5
Hilary Coon
Co-authored papers 5
Daniel H Geschwind
University of California los angeles
Co-authored papers 5
Catherine Lord
University of California los angeles
Co-authored papers 5
Ann Thompson
McMaster University
Co-authored papers 5
Michael Gill
Co-authored papers 5
Margaret A Pericak-Vance
Co-authored papers 5
Alexander Kolevzon
Co-authored papers 5
Veronica J Vieland
The Ohio State University
Co-authored papers 5
Gerard D Schellenberg
Co-authored papers 5
Edwin H Cook
Co-authored papers 5
Release 1.2