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Lista de obras de Graeme Black

3-M syndrome: a growth disorder associated with IGF2 silencing.

artículo científico publicado en 2013

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

artículo científico publicado en 2009

A bidirectional YAC walk from the Norrie disease (NDP) locus

artículo científico publicado en 1995

A clinical characterization of familial keloid disease in unique African tribes reveals distinct keloid phenotypes.

artículo científico publicado en 2011

A clinical molecular genetic service for United Kingdom families with choroideraemia

artículo científico publicado en 2013

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

artículo científico publicado en 2003

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation

artículo científico publicado en 2007

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

artículo científico publicado en 2007

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations

scientific article published on 27 August 2019

A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.

artículo científico publicado en 2008

A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

artículo científico publicado en 1999

A novel mutation in IL36RN underpins childhood pustular dermatosis

artículo científico publicado en 2015

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

artículo científico publicado en 2002

A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation

artículo científico publicado en 2008

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

artículo científico publicado en 2012

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

artículo científico publicado en 2006

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

artículo científico publicado en 2010

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

artículo científico publicado en 2008

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development

artículo científico publicado en 2003

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

artículo científico publicado en 2015

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

artículo científico publicado en 2015

Alstrom syndrome (OMIM 203800): a case report and literature review

artículo científico publicado en 2007

An MspI polymorphism at the D7S599E locus

artículo científico publicado en 1993

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

artículo científico publicado en 2016

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

artículo científico publicado en 2011

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

artículo científico publicado en 2001

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

artículo científico publicado en 2017

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

artículo científico publicado en 2017

Atypical presentation of CRB1 retinopathy

artículo científico publicado en 2016

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis

artículo científico publicado en 2004

Autozygosity mapping with exome sequence data

artículo científico publicado en 2012

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

artículo científico publicado en 2009

BIGH3 mutation spectrum in corneal dystrophies

scientific article published on 01 April 2002

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

article

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

artículo científico publicado en 2018

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

artículo científico publicado en 2008

Breast cancer susceptibility variants alter risks in familial disease.

artículo científico publicado en 2009

Brittle cornea syndrome: recognition, molecular diagnosis and management

artículo científico publicado en 2013

C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation

artículo científico publicado en 2018

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

artículo científico publicado en 2007

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

artículo científico publicado en 2014

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

artículo científico publicado en 2012

Clinical utility gene card for: choroideremia.

artículo científico publicado en 2013

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

artículo científico publicado en 1999

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport ⬇️

artículo científico publicado el 2 de mayo de 2003

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene

article

Corneal dystrophies and degenerations: a molecular genetics approach

article

Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? ⬇️

artículo científico publicado en 2006

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

artículo científico publicado en 2002

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

artículo científico publicado en 2007

De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability

artículo científico publicado en 2010

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

artículo científico publicado en 2010

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

artículo científico publicado en 2004

Delivery of a clinical genomics service

artículo científico publicado en 2014

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

artículo científico publicado en 2014

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

artículo científico publicado en 2016

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

artículo científico publicado en 2003

Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas

artículo científico publicado en 1998

Dinucleotide repeat polymorphism at the MAOA locus

artículo científico publicado en 1991

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

artículo científico publicado en 2010

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

artículo científico publicado en 2015

Early Onset Retinal Dystrophy Due to Mutations inLRAT: Molecular Analysis and Detailed Phenotypic Study

article

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

artículo científico publicado en 2014

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

artículo científico publicado en 2006

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

artículo científico publicado en 2006

Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy

artículo científico publicado en 2006

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus ⬇️

artículo científico publicado el 22 de diciembre de 2011

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

artículo científico publicado en 2011

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

artículo científico publicado en 2017

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.

artículo científico publicado en 2012

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.

artículo científico publicado en 2010

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

artículo científico publicado en 2012

Flecked retina associated with ring 17 chromosome

scientific article published on 06 February 2009

Focus on Molecules: Lens intrinsic membrane protein (LIM2/MP20)

artículo científico publicado en 2011

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

artículo científico publicado en 2011

Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome

artículo científico publicado en 2016

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

scientific article published on 01 January 2019

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility

artículo científico publicado en 2003

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

artículo científico publicado en 2011

Genetic testing for inherited ocular disease: delivering on the promise at last?

artículo científico publicado en 2013

Genetic testing--swings and roundabouts: a view from the United Kingdom

artículo científico publicado en 2001

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma

artículo científico publicado en 2016

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

artículo científico publicado en 2016

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

artículo científico publicado en 2006

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

artículo científico publicado en 2008

Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies

artículo científico publicado en 2019

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

artículo científico publicado en 2011

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

artículo científico publicado en 2018

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

artículo científico publicado en 2011

Identification of genomic loci contributing to agenesis of the corpus callosum

article

Identification of mutations in CUL7 in 3-M syndrome

artículo científico publicado en 2005

Identifying biological pathways that underlie primordial short stature using network analysis

artículo científico publicado en 2014

Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom

artículo científico publicado en 2016

Improving diagnosis for congenital cataract by introducing NGS genetic testing.

scientific article published on 19 September 2016

Improving the clinical interpretation of missense variants in X linked genes using structural analysis

artículo científico publicado en 2021

Inherited eye disease: cause and late effect.

artículo científico publicado en 2005

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

artículo científico publicado en 2006

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family

artículo científico publicado en 2000

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)

artículo científico publicado en 1998

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

artículo científico publicado en 2019

Macular spatial distribution of preserved autofluorescence in patients with choroideremia

article

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

artículo científico publicado en 2007

Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

artículo científico publicado en 2017

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

artículo científico publicado en 2015

Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

artículo científico publicado en 2008

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

artículo científico publicado en 2010

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

artículo científico publicado en 2005

Molecular findings from 537 individuals with inherited retinal disease.

artículo científico publicado en 2016

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.

artículo científico publicado en 2002

Molecular genetics of blindness

artículo científico publicado en 1994

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

artículo científico publicado en 2012

Mutations in HPSE2 Cause Urofacial Syndrome

artículo científico publicado en 2010

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

artículo científico publicado en 2004

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

artículo científico publicado en 2016

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

artículo científico publicado en 2004

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

artículo científico publicado en 2012

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

artículo científico publicado en 2017

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

artículo científico publicado en 2016

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

artículo científico publicado en 2017

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.

artículo científico publicado en 2005

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

artículo científico publicado en 2004

Ophthalmology in the post-genomic era

artículo científico publicado en 1999

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

artículo científico

Patient expectations and attitudes towards specialist genetic eye services

artículo científico publicado en 2014

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

artículo científico publicado en 2013

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

artículo científico publicado en 2021

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

artículo científico publicado en 2014

Personalized ophthalmology.

artículo científico publicado en 2014

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

artículo científico publicado en 2017

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

artículo científico publicado en 2015

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

artículo científico publicado en 2010

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family

artículo científico publicado en 2003

RPGR mutation analysis and disease: an update

artículo científico publicado en 2007

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

artículo científico publicado en 2010

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

artículo científico publicado en 2014

Severe neonatal manifestations of Costello syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

artículo científico publicado en 2000

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

artículo científico publicado en 2004

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

artículo científico publicado en 2011

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2001

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

artículo científico publicado en 2011

The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

article

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members ⬇️

artículo científico publicado el 16 de junio de 2011

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

scientific article published in 2021

The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

artículo científico publicado en 2011

The molecular biology of Norrie's disease

artículo científico publicado en 1994

The ophthalmic findings in Cohen syndrome

artículo científico publicado en 2002

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype

artículo científico

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

artículo científico publicado en 2009

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies

scientific article published on 24 January 2019

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

artículo científico publicado en 2016

Understanding the expectations of patients with inherited retinal dystrophies.

artículo científico publicado en 2013

Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG).

artículo científico publicado en 2018

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype

scientific article published on 01 March 2010

Validation of copy number variation analysis for next-generation sequencing diagnostics

artículo científico publicado en 2017

Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method

artículo científico publicado en 2013

Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.

artículo científico publicado en 2015

Visual Acuity after Retinal Gene Therapy for Choroideremia.

artículo científico publicado en 2016

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

artículo científico publicado en 2019

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

artículo científico publicado en 2016

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

artículo científico publicado en 2011

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

artículo científico publicado en 2011

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

scientific article published on October 2009

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

artículo científico publicado en 2013

[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1]

scientific article published on 01 November 2011

polyadenylation signal variants cause syndromic microphthalmia

artículo científico publicado en 2019

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