about
Identification of microcephalin, a protein implicated in determining the size of the human brainMutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationHEATR2 plays a conserved role in assembly of the ciliary motile apparatusBiallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseMutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaClinical and molecular phenotype of Aicardi-Goutieres syndromeHomozygosity 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 disordersHACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathyA tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeAutozygosity mapping with exome sequence data.Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.Detection of somatic mutations in tumors using unaligned clonal sequencing data.Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomasGenetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathwayDominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.The proteomes of transcription factories containing RNA polymerases I, II or III.Identification of SATB2 as the cleft palate gene on 2q32-q33.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaGenetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityNext generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingGeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profilesA Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors.Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.Illuminator, a desktop program for mutation detection using short-read clonal sequencing.m6aViewer: software for the detection, analysis and visualization of N6-methyl-adenosine peaks from m6A-seq/ME-RIP sequencing data.
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
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researcher
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հետազոտող
@hy
name
Ian M Carr
@cy
Ian M Carr
@en-gb
Ian M. Carr
@en
Ian M. Carr
@es
Ian M. Carr
@nl
Ian M. Carr
@sl
type
label
Ian M Carr
@cy
Ian M Carr
@en-gb
Ian M. Carr
@en
Ian M. Carr
@es
Ian M. Carr
@nl
Ian M. Carr
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prefLabel
Ian M Carr
@cy
Ian M Carr
@en-gb
Ian M. Carr
@en
Ian M. Carr
@es
Ian M. Carr
@nl
Ian M. Carr
@sl
P106
P1153
7005288760
P2031
1994-01-01T00:00:00Z
P21
P31
P496
0000-0001-9544-1068