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List of works by Graeme Black

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

scientific article

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

scientific article published in July 2009

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

scientific article published on February 1995

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

scientific article

A clinical molecular genetic service for United Kingdom families with choroideraemia

scientific article published on 25 June 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

scientific article

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

scientific article published on 20 March 2007

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

scientific article published on 27 January 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.

scientific article

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

scientific article published in November 1999

A novel mutation in IL36RN underpins childhood pustular dermatosis

scientific article published on 16 February 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 8 July 2008

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

scientific article published on 21 October 2003

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

scientific article published on 8 January 2015

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

scientific article published on 15 January 2015

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

scientific article

An MspI polymorphism at the D7S599E locus

scientific article published in September 1993

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

scientific article

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

scientific article published on 14 October 2011

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

scientific article

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

scientific article published on 26 October 2017

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

scientific article

Atypical presentation of CRB1 retinopathy

scientific article published on 23 February 2016

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis

scientific article published on 01 December 2004

Autozygosity mapping with exome sequence data

scientific article

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

scientific article

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

scientific article published on 01 October 2018

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

scientific article

Breast cancer susceptibility variants alter risks in familial disease.

scientific article

Brittle cornea syndrome: recognition, molecular diagnosis and management

scientific article published on 4 May 2013

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

scientific article

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

scientific article published in October 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.

scientific article published on 27 August 2014

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

scientific article published on 11 January 2012

Clinical utility gene card for: choroideremia.

scientific article published on 21 August 2013

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

scientific article

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 ⬇️

scientific article published on May 2, 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? ⬇️

scientific article published on March 2006

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

scientific article

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

scientific article published on August 2007

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

scientific article published in April 2010

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

scientific article

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

scientific article

Delivery of a clinical genomics service

scientific article

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

scientific article published on 18 February 2014

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

scientific article published on 17 June 2016

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

scientific article published in April 2003

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

scientific article

Dinucleotide repeat polymorphism at the MAOA locus

scientific article published on February 1991

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

scientific article

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

scientific article

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 ⬇️

scientific article published on 3 June 2014

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

scientific article

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

scientific article published in February 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

scientific article published on November 2006

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

scientific article published on December 22, 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

scientific article

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

scientific article published on 16 March 2017

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

scientific article published on September 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.

scientific article

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

scientific article published on 19 June 2012

Flecked retina associated with ring 17 chromosome

scientific article published on 06 February 2009

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

scientific article published on 16 August 2011

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

scientific article published on 01 May 2011

Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome

scientific article published on 11 August 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

scientific article published in December 2003

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

scientific article published on 7 July 2011

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

scientific article published on 21 August 2013

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

scientific article

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

scientific article published on 28 September 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 April 2019

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

scientific article published on 30 November 2011

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

scientific article published on 10 January 2018

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

scientific article published on 04 October 2011

Identification of genomic loci contributing to agenesis of the corpus callosum

article

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Identifying biological pathways that underlie primordial short stature using network analysis

scientific article

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

scientific article published on 15 April 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

scientific article published on 25 March 2021

Inherited eye disease: cause and late effect.

scientific article

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

scientific article published on 17 August 2006

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

scientific article

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)

scientific article

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

scientific article published on 21 March 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

scientific article

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

scientific article published on 9 May 2017

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

scientific article published on 8 June 2015

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

scientific article published on 01 January 2008

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

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

scientific article

Molecular findings from 537 individuals with inherited retinal disease.

scientific article published on 11 May 2016

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

scientific article

Molecular genetics of blindness

scientific article published on January 1994

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

scientific article

Mutations in HPSE2 Cause Urofacial Syndrome

scientific article published in August 2010

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

scientific article

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

scientific article

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

scientific article published in October 2004

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

scientific article

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

scientific article published on 9 May 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Ophthalmology in the post-genomic era

scientific article

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

scientific article published on 21 March 2017

Patient expectations and attitudes towards specialist genetic eye services

scientific article published on 3 October 2014

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

scientific article published on 28 March 2013

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

scientific article published on 20 April 2021

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

scientific article published on 19 August 2014

Personalized ophthalmology.

scientific article

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

scientific article

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

scientific article published in The Lancet

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

scientific article published in May 2010

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

scientific article published on April 2003

RPGR mutation analysis and disease: an update

scientific article published in April 2007

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

scientific article

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

scientific article

Severe neonatal manifestations of Costello syndrome

scientific article published on 26 November 2007

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

scientific article

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

scientific article published in The Lancet

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

scientific article

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

scientific article

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

scientific article (publication date: 15 June 2001)

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

scientific article

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 ⬇️

scientific article published on June 16, 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.

scientific article

The molecular biology of Norrie's disease

scientific article

The ophthalmic findings in Cohen syndrome

scientific article published on December 2002

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

scientific article published on 30 September 2014

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

scientific article published on 28 May 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.

scientific article

Understanding the expectations of patients with inherited retinal dystrophies.

scientific article published on 5 June 2013

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

scientific article published on 5 February 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

scientific article published on 5 April 2017

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

scientific article published on 06 June 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.

scientific article published on 9 January 2015

Visual Acuity after Retinal Gene Therapy for Choroideremia.

scientific article published on 27 April 2016

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

scientific article published on 01 February 2019

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

scientific article published on 9 February 2016

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

scientific article

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

scientific article

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.

scientific article published on 26 April 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

scientific article published on 06 March 2019

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