List of works - Graeme Black

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

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

scientific article

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

scientific article

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

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

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

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

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

scientific article

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

scientific article

Identification of mutations in CUL7 in 3-M syndrome

scientific article

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

scientific article

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

scientific article published in October 2004

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

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

scientific article

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

scientific article published on 28 March 2013

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

scientific article published in The Lancet

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

scientific article

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

scientific article

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

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

BIGH3 mutation spectrum in corneal dystrophies

scientific article published on 01 April 2002

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

Visual Acuity after Retinal Gene Therapy for Choroideremia.

scientific article published on 27 April 2016

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

scientific article published on 19 August 2014

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

scientific article (publication date: 15 June 2001)

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

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

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

scientific article published in December 2003

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

scientific article

Molecular findings from 537 individuals with inherited retinal disease.

scientific article published on 11 May 2016

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

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

scientific article published on 8 June 2015

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

scientific article published on December 22, 2011

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

scientific article published on 28 May 2009

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

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

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

scientific article

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

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

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

scientific article published in April 2003

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

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

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

scientific article published on 9 February 2016

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

scientific article

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

scientific article published on 8 July 2008

Identification of genomic loci contributing to agenesis of the corpus callosum

article

Autozygosity mapping with exome sequence data

scientific article

List of works by Graeme Black

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

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

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

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

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

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

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

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

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

Identification of mutations in CUL7 in 3-M syndrome

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

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

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

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

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

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

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

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

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

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

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

BIGH3 mutation spectrum in corneal dystrophies

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

Visual Acuity after Retinal Gene Therapy for Choroideremia.

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

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

RPGR mutation analysis and disease: an update

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

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

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

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

Molecular findings from 537 individuals with inherited retinal disease.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

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

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

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

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

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

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

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

Dinucleotide repeat polymorphism at the MAOA locus

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

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

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

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

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

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

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

Identification of genomic loci contributing to agenesis of the corpus callosum

Autozygosity mapping with exome sequence data