List of works - Ian M. Carr

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

scientific article

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

scientific article published on 4 October 2015

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

scientific article

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

scientific article

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

scientific article

Autozygosity mapping with exome sequence data

scientific article

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

scientific article

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

scientific article

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene ⬇️

scientific article published on 31 August 2017

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article published on 5 January 2016

Detection of somatic mutations in tumors using unaligned clonal sequencing data

scientific article

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

scientific article

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

scientific article published on 14 October 2013

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

scientific article published on 4 January 2016

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

scientific article published on 9 April 2015

Genetic diagnosis of familial breast cancer using clonal sequencing

scientific article

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

scientific article

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

scientific article published on February 10, 2011

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

scientific article

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

scientific article

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

scientific article

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 ⬇️

scientific article

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

scientific article

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

scientific article

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

scientific article

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

scientific article published on 19 May 2011

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

scientific article

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

scientific article published on 25 February 2016

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

scientific article

Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics

scientific article published on 11 October 2012

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

scientific article

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

scientific article

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

scientific article

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

scientific article

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

scientific article

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

scientific article

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

scientific article

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

scientific article published on 7 November 2011

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

scientific article published on May 2015

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

scientific article published in 2020

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

scientific article published on 12 August 2015

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

scientific article

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

scientific article

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype ⬇️

scientific article

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

scientific article

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

scientific article published on April 2014

Sequence analysis and editing for bisulphite genomic sequencing projects ⬇️

scientific article published on 21 May 2007

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

scientific article

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

scientific article

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

scientific article

Translating Biomarkers of Cholangiocarcinoma for Theranosis: A Systematic Review

scientific article published on 30 September 2020

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

scientific article published on 19 July 2017

List of works by Ian M. Carr

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

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

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

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

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

Autozygosity mapping with exome sequence data

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

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene ⬇️

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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

Detection of somatic mutations in tumors using unaligned clonal sequencing data

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

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

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

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

Genetic diagnosis of familial breast cancer using clonal sequencing

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

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

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

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

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 ⬇️

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

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

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

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

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

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

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

Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics

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

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

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

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

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

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

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

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

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

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

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

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

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype ⬇️

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

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

Sequence analysis and editing for bisulphite genomic sequencing projects ⬇️

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

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

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

Translating Biomarkers of Cholangiocarcinoma for Theranosis: A Systematic Review

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