I. Carr

发表

Functionally impaired plasmacytoid dendritic cells and non-haematopoietic sources of type I interferon characterize human autoimmunity

P. Emery, G. Tsokos, A. Psarras, 2020, Nature Communications.

Identification of a Novel Microsatellite Marker Tightly Linked to the KAI–1 Gene for Predicting Prostate Cancer Progression

A. Markham, I. Carr, B. Maraj, 2000, European Urology.

Genetic diagnosis of familial breast cancer using clonal sequencing

Eamonn Sheridan, Graham R Taylor, D. Bonthron, 2010, Human mutation.

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

Laura A. Crinnion, D. Bonthron, A. Markham, 2015, Human mutation.

The role of inhibitory molecules in fracture healing.

P. Giannoudis, I. Carr, E. Tsiridis, 2006, Injury.

Standardized protocols for differentiation of THP-1 cells to macrophages with distinct M(IFNγ+LPS), M(IL-4) and M(IL-10) phenotypes.

A. Morgan, S. Mackie, I. Carr, 2020, Journal of immunological methods.

Identification and characterisation of a sequence related to human sorbitol dehydrogenase.

P. Coletta, A. Markham, I. Carr, 1997, European journal of biochemistry.

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

Translating Biomarkers of Cholangiocarcinoma for Theranosis: A Systematic Review

A. Antanaviciute, I. Carr, P. Coletta, 2020, Cancers.

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

D. Bonthron, Z. Molnár, Y. Crow, 2009, American journal of human genetics.

Prostate-specific membrane antigen: evidence for the existence of a second related human gene.

K. Maclennan, I. Carr, B. Maraj, 1995, British Journal of Cancer.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American journal of human genetics.

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

Ian M. Carr, Jennifer Kirkham, Michel Michaelides, 2009, American journal of human genetics.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Laura A. Crinnion, D. Bonthron, A. Antanaviciute, 2016, BMC Medical Genetics.

Estimating the degree of identity by descent in consanguineous couples

I. Carr, S. Pena, Sir Alexander F Markham, 2011, Human mutation.

Effects of quercetin and metabolites on uric acid biosynthesis and consequences for gene expression in the epithelium.

G. Williamson, S. Tumova, I. Carr, 2020, Free radical biology & medicine.

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

D. Bonthron, A. Markham, M. McKibbin, 2012, PloS one.

BCL10 in malignant lymphomas – an evaluation using fluorescence in situ hybridization

K. Maclennan, K. Maclennan, K. Horgan, 2002, The Journal of pathology.

Interleukin-36 promotes systemic Type-I IFN responses in severe forms of psoriasis

F. Ciccarelli, F. Capon, H. Young, 2019 .

Molecular genetic analysis of the human sorbitol dehydrogenase gene

A. Markham, I. Carr, 1995, Mammalian Genome.

An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target

F. Ciccarelli, P. Di Meglio, M. Peakman, 2017, Science Translational Medicine.

Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome

D. Bonthron, I. Carr, C. Gardiner, 2020, Human mutation.

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

Laura A. Crinnion, D. Bonthron, I. Carr, 2019, Laboratory Investigation.

Isolation of the protein and RNA content of active sites of transcription from mammalian cells

K. Rippe, P. Cook, I. Carr, 2016, Nature Protocols.

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms

D. Bonthron, S. Ellard, G. Taylor, 2010, Journal of Medical Genetics.

Ferries and environmental DNA: underway sampling from commercial vessels provides new opportunities for systematic genetic surveys of marine biodiversity

S. Goodman, P. Galli, I. Carr, 2021, bioRxiv.

Assignment1 of the murine adenomatous polyposis coli 2 (Apc2) gene to mouse chromosome band 10B5-C2 by in situ hybridisation

S. Wedgwood, P. Coletta, E. Cartwright, 1999, Cytogenetic and Genome Research.

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1

I. Carr, A. Topaloğlu, L. D. Kotan, 2016, Journal of clinical research in pediatric endocrinology.

Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

D. Bonthron, N. Rahman, A. Markham, 2013, Human mutation.

Yeast artificial chromosome cloning and chromosomal localization of the abundant odontogenic keratocyst protein elafin.

A. Markham, P. Robinson, I. Carr, 1996, Archives of Oral Biology.

DominantMapper: Rule‐based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

Colin A. Johnson, D. Bonthron, A. Markham, 2011, Human mutation.

Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme

D. Bonthron, A. Markham, I. Carr, 2009, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Targeting BDCA2 suppresses Plasmacytoid dendritic cell dependent interferon response and tissue fibrosis

A. Antanaviciute, I. Carr, J. Distler, 2020 .

Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

Laura A. Crinnion, D. Bonthron, I. Carr, 2014, American journal of medical genetics. Part A.

Abstracts of the 8th International Meeting

A. Rademaker, R. Eddy, T. Shows, 1999, Cytogenetic and Genome Research.

The herpesvirus saimiri ORF50 gene, encoding a transcriptional activator homologous to the Epstein-Barr virus R protein, is transcribed from two distinct promoters of different temporal phases

I. Carr, A. Whitehouse, D. Meredith, 1997, Journal of virology.

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

R. MacLaren, P. Sergouniotis, A. Webster, 2012, Investigative ophthalmology & visual science.

Complete Genome Sequence of a Novel Avian Paramyxovirus (APMV-13) Isolated from a Wild Bird in Kazakhstan

S. Goodman, I. Carr, S. Harrison, 2016, Genome Announcements.

Cantú syndrome with coexisting familial pituitary adenoma

D. Bonthron, M. Korbonits, S. Hunter, 2018, Endocrine.

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Laura A. Crinnion, D. Bonthron, G. Taylor, 2013, Human mutation.

Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization.

S. Bell, I. Carr, J. Leek, 1997, Cytogenetics and cell genetics.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

D. Bonthron, T. Wieland, T. Strom, 2015, Journal of Medical Genetics.

The proteomes of transcription factories containing RNA polymerases I, II or III

Ian M. Carr, Peter R Cook, Argyris Papantonis, 2011, Nature Methods.

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Colin A. Johnson, G. Taylor, M. Barron, 2012, American journal of human genetics.

Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway

R. West, P. Giannoudis, A. Markham, 2011, BMC musculoskeletal disorders.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Stabilization of a Dialkylstannylene by Unusual B−H···Sn γ-Agostic-Type Interactions. A Structural, Spectroscopic, and DFT Study

I. Carr, K. Izod, R. Harrington, 2006 .

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

C. Woods, A. Markham, I. Carr, 2004, BMC neurology.

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

Colin A. Johnson, A. Markham, M. Mohamed, 2011, Investigative ophthalmology & visual science.

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Colin A. Johnson, G. Taylor, M. Mohamed, 2011, Human molecular genetics.

Analysis of Gene Expression in a Human Cell Line Stably Transduced with Herpesvirus Saimiri

M. Calderwood, A. Markham, I. Carr, 2000, Journal of Virology.

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

D. Bonthron, C. Fishwick, A. Latos-Bieleńska, 2008, Nature Genetics.

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

D. Bonthron, I. Jackson, A. von Kriegsheim, 2014, PLoS genetics.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

John Bradbury, Eamonn Sheridan, Rohit Shetty, 2013, American journal of human genetics.

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

John Bradbury, Eamonn Sheridan, Carmel Toomes, 2013, Molecular vision.

Identification of SATB2 as the cleft palate gene on 2q32-q33.

D. Bonthron, H. Firth, C. Hayward, 2003, Human molecular genetics.

Both isoforms of ketohexokinase are dispensable for normal growth and development.

D. Bonthron, A. Markham, I. Carr, 2010, Physiological genomics.

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Hussain Jafri, Emma Roberts, Jimi Adu, 2002, American journal of human genetics.

Sequence analysis and editing for bisulphite genomic sequencing projects

Ian M. Carr, Alexander F. Markham, David T. Bonthron, 2007, Nucleic acids research.

The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors

Nicola Ingram, Stuart A. Macnab, Gemma Marston, 2013, BMC Medical Imaging.

The Tudor SND1 protein is an m6A RNA reader essential for replication of Kaposi’s sarcoma-associated herpesvirus

Stuart A. Wilson, A. Antanaviciute, I. Carr, 2019, eLife.

Autozygosity Mapping with Exome Sequence Data

D. Bonthron, F. Alkuraya, S. Bhaskar, 2013, Human mutation.

Herpesvirus saimiri-mediated delivery of the adenomatous polyposis coli tumour suppressor gene reduces proliferation of colorectal cancer cells.

A. Markham, I. Carr, A. Whitehouse, 2011, International journal of oncology.

A human ubiquitin conjugating enzyme, L-UBC, maps in the Alzheimer's disease locus on Chromosome 14q24.3

J. Thompson, P. Coletta, A. Markham, 1995, Mammalian Genome.

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Laura A. Crinnion, D. Bonthron, H. Lindsay, 2020, Laboratory Investigation.

Screening for cancer predisposition.

G. Taylor, P. Coletta, A. Markham, 1994, European journal of cancer.

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

D. Bonthron, F. Alkuraya, A. Markham, 2013, Human mutation.

Identification of autosomal recessive disease loci using out‐bred nuclear families

Colin A. Johnson, D. Bonthron, I. Carr, 2012, Human mutation.

MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects

Ian M. Carr, Alexander F. Markham, David T. Bonthron, 2010, Nucleic Acids Res..

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Colin A. Johnson, D. Bonthron, G. Taylor, 2011, American journal of human genetics.

An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas

K. Horgan, A. Markham, I. Carr, 2013, BMC Clinical Pathology.

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

D. Bonthron, A. Markham, R. Hopkin, 2010, Rheumatology.

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Laura A. Crinnion, D. Bonthron, Z. Molnár, 2017, PloS one.

Detection by fluorescence in situ hybridization of microdeletions at 1p36 in lymphomas, unidentified on cytogenetic analysis.

D. Bonthron, K. Maclennan, K. Horgan, 2003, Cancer genetics and cytogenetics.

m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data

Ian M. Carr, Alexander F. Markham, Adrian Whitehouse, 2017, RNA.

Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis

Stephen G. Martin, J. Barrett, A. Barton, 2012, Human mutation.

Inferring relative proportions of DNA variants from sequencing electropherograms

Ian M. Carr, Alexander F. Markham, J. I. Robinson, 2009, Bioinform..

Structural and evolutionary characterization of the human sorbitol dehydrogenase gene duplication

P. Coletta, A. Markham, I. Carr, 1998, Mammalian Genome.

Erratum to the report of the third international workshop on human Y chromosome mapping 1997

A. Uitterlinden, E. Mullaart, A. Protopopov, 1997 .

Detection of somatic mutations in tumors using unaligned clonal sequencing data

Laura A. Crinnion, D. Bonthron, P. Quirke, 2014, Laboratory Investigation.

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness

Pawan Gupta, I. Carr, M. Shaw, 2015, Anesthesiology.

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

Colin A. Johnson, G. Taylor, J. Craig, 2011, American journal of human genetics.

Novel universal primers for metabarcoding environmental DNA surveys of marine mammals and other marine vertebrates

S. Goodman, P. Galli, I. Carr, 2020, Environmental DNA.

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

Graham R Taylor, D. Bonthron, A. Markham, 2006, Human mutation.

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Laura A. Crinnion, D. Bonthron, A. Antanaviciute, 2016, PloS one.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American Journal of Human Genetics.

Explorer HEATR 2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Amaya Garcia Munoz, D. Bonthron, I. Jackson, 2017 .

Paracrine cyclooxygenase-2 activity by macrophages drives colorectal adenoma progression in the ApcMin/+ mouse model of intestinal tumorigenesis

C. Bonifer, E. Cartwright, A. Markham, 2017, Scientific Reports.

Induction of epigenetic variation in Arabidopsis by over-expression of DNA METHYLTRANSFERASE1 (MET1)

I. Carr, P. Meyer, Michael Watson, 2018, PloS one.

IL-36 Promotes Systemic IFN-I Responses in Severe Forms of Psoriasis

F. Ciccarelli, A. Burden, F. Capon, 2020, The Journal of investigative dermatology.

Interleukin-36 promotes systemic Type-I IFN responses in severe psoriasis

F. Ciccarelli, A. Burden, F. Capon, 2018, bioRxiv.

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

Colin A. Johnson, D. Bonthron, A. Markham, 2009, Human mutation.

Targeting human plasmacytoid dendritic cells through BDCA2 prevents skin inflammation and fibrosis in a novel xenotransplant mouse model of scleroderma

A. Antanaviciute, I. Carr, F. del Galdo, 2021, Annals of the Rheumatic Diseases.

Plasmacytoid dendritic cells are functionally exhausted while non-haematopoietic sources of type I interferon dominate human autoimmunity

P. Emery, G. Tsokos, A. Psarras, 2018 .

Transcriptome profiles of stem-like cells from primary breast cancers allow identification of ITGA7 as a predictive marker of chemotherapy response

W. E. Hughes, G. Wells, I. Carr, 2021, British Journal of Cancer.

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Laura A. Crinnion, D. Bonthron, Lijia Huang, 2018, bioRxiv.

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization

Ian M. Carr, Alexander F. Markham, Agne Antanaviciute, 2015, Bioinform..

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

D. Bonthron, O. Howes, N. Brandon, 2016, American journal of human genetics.

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

Laura A. Crinnion, D. Bonthron, M. Newbould, 2016, Journal of Medical Genetics.

Loss of expression of ZAC/PLAGL1 in diffuse large B‐cell lymphoma is independent of promoter hypermethylation

D. Bonthron, K. Maclennan, I. Carr, 2010, Genes, chromosomes & cancer.

Targeting human Plasmacytoid dendritic cells through BDCA2 prevents inflammation and fibrosis in xenotransplant mouse model of Scleroderma

A. Antanaviciute, I. Carr, F. del Galdo, 2020, bioRxiv.

Exposure of wild Caspian seals (Pusa caspica) to parasites, bacterial and viral pathogens, evaluated via molecular and serological assays

S. Goodman, I. Carr, A. Kydyrmanov, 2023, Frontiers in Marine Science.

TNF-α Regulates Human Plasmacytoid Dendritic Cells by Suppressing IFN-α Production and Enhancing T Cell Activation

P. Emery, G. Tsokos, A. Psarras, 2021, The Journal of Immunology.

Yeast artificial chromosome cloning of the β-catenin locus on human chromosome 3p21–22

A. Markham, I. Carr, J. Leek, 1995, Chromosome Research.

IBDfinder and SNPsetter: Tools for pedigree‐independent identification of autozygous regions in individuals with recessive inherited disease

D. Bonthron, A. Markham, I. Carr, 2009, Human mutation.

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Laura A. Crinnion, D. Bonthron, A. Markham, 2017, The Journal of molecular diagnostics : JMD.

Genomic Localization of a SMAD 4 Processed Pseudogene

Laura A. Crinnion, A. Markham, A. Antanaviciute, 2017 .

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Colin A. Johnson, Eamonn Sheridan, Carmel Toomes, 2015, American journal of human genetics.

Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment

D. Bonthron, A. Markham, B. Prakken, 2015, The Journal of Rheumatology.

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Colin A. Johnson, D. Bonthron, G. Taylor, 2012, Human mutation.

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Colin A. Johnson, G. Taylor, M. McKibbin, 2014, PloS one.

Advantage from massive parallel sequencing of RYR1 and CACNA1S in diagnostics of malignant hyperthermia susceptibility

I. Carr, M. Shaw, P. Hopkins, 2014, BMC Anesthesiology.

Novel avian paramyxovirus isolated from gulls in Caspian seashore in Kazakhstan

S. Goodman, I. Carr, S. Harrison, 2017, PloS one.

Effects of EGFR Inhibitor on Helicobacter pylori Induced Gastric Epithelial Pathology in Vivo

P. Robinson, I. Carr, D. Pritchard, 2013, Pathogens.

The Ability of Quercetin and Ferulic Acid to Lower Stored Fat is Dependent on the Metabolic Background of Human Adipocytes.

M. Wabitsch, G. Williamson, I. Carr, 2020, Molecular nutrition & food research.

Mutation Detection by Clonal Sequencing of PCR Amplicons and Grouped Read Typing is Applicable to Clinical Diagnostics

Lucy F. Stead, G. Taylor, P. Quirke, 2013, Human mutation.

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

Laura A. Crinnion, M. McKibbin, C. Inglehearn, 2023, Molecular Diagnosis & Therapy.

Novel Universal Primers for Metabarcoding eDNA Surveys of Marine Mammals and Other Marine Vertebrates

S. Goodman, P. Galli, I. Carr, 2019, bioRxiv.

Identification of microcephalin, a protein implicated in determining the size of the human brain

Y. Crow, A. Markham, D. Hampshire, 2002 .

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles

Catherine Daly, Ian M. Carr, Alexander F. Markham, 2015, Bioinform..

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Laura A. Crinnion, D. Bonthron, C. Inglehearn, 2015, Molecular genetics & genomic medicine.