about
Alstrom syndrome (OMIM 203800): a case report and literature reviewCoats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesisWhole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeDiscovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeWhole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeExome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDe novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine modelsSpectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophyRetinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.Biallelic mutation of BEST1 causes a distinct retinopathy in humansGenotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomasAutozygosity mapping with exome sequence data.Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.Delineation of Cohen syndrome following a large-scale genotype-phenotype screenMolecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsFamilial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.The molecular biology of Norrie's disease.Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movementsSpectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.Identification of mutations in CUL7 in 3-M syndrome.A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1Genetic testing--swings and roundabouts: a view from the United Kingdom.Personalized ophthalmology.A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.Delivery of a clinical genomics service
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P50
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Graeme Black
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Graeme Black
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Graeme Black
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Graeme Black
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Graeme Black
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Graeme Black
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P1053
K-7374-2015
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P1153
7102294178
P21
P31
P3829
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P6023
2080424920