G. Black

发表

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

N. Bressler, M. Larsen, S. Tsang, 2017, American journal of ophthalmology.

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

D. Evans, D. McLeod, K. Damji, 2003, Human molecular genetics.

Ray Receptor Mutation Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid

D. Ray, P. Trebble, L. Matthews, 2010 .

Translational Highlight 'Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation'

D. Ray, P. Trebble, L. Matthews, 2010 .

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

D. Ray, P. Trebble, L. Matthews, 2010, The Journal of clinical endocrinology and metabolism.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

S. Mansour, D. Hanson, P. Clayton, 2012, Journal of molecular endocrinology.

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

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene—Lessons for corneal amyloidogenesis

H. Stewart, M. Dixon, G. Black, 1999, Human mutation.

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

D. Schorderet, F. Munier, G. Black, 2006, Human mutation.

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.

Emma M Wade, G. Black, J. Urquhart, 2011, Investigative ophthalmology & visual science.

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.

J. Clayton-Smith, A. de la Chapelle, M. Warburg, 2003, American journal of human genetics.

Association of Steroid 5&agr;-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Rachel L. Taylor, Katherine R. Smith, J. Clayton-Smith, 2017, JAMA ophthalmology.

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

A. Davidson, G. Black, H. Spencer, 2011, FEBS letters.

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

P. Scambler, S. Holder, D. Hanson, 2009, American journal of human genetics.

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

L. Biesecker, A. Nordgren, J. Johnston, 2007, Human Molecular Genetics.

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

Y. Crow, D. Pilz, W. Dobyns, 2010, American journal of human genetics.

Macular spatial distribution of preserved autofluorescence in patients with choroideremia

N. Bressler, M. Larsen, S. Tsang, 2018, British Journal of Ophthalmology.

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

Simon J. Clark, G. Black, V. Tilakaratna, 2018, Scientific Reports.

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

D. Hanson, P. Clayton, P. Murray, 2012, Clinical endocrinology.

The Genetics of 3-M Syndrome: Unravelling a Potential New Regulatory Growth Pathway

D. Hanson, P. Clayton, P. Murray, 2011, Hormone Research in Paediatrics.

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.

M. Lyon, R. Griffiths, P. Glenister, 2003, Human molecular genetics.

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

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

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

D. Ray, P. Trebble, L. Matthews, 2010, The Journal of clinical endocrinology and metabolism.

Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

Rachel L. Taylor, R. Baines, B. Corneo, 2020, Investigative ophthalmology & visual science.

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

D. Sillence, M. Baumgartner, A. Janecke, 2013, Molecular genetics and metabolism.

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

J. Clayton-Smith, G. Black, J. Urquhart, 2009, European journal of medical genetics.

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

N. Newman, P. Subramanian, A. Toosy, 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

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

P. Clayton, A. Procter, G. Black, 2009, Clinical dysmorphology.

BIGH3 mutation spectrum in corneal dystrophies.

B. Lorenz, Y. Arsenijévic, D. Schorderet, 2002, Investigative ophthalmology & visual science.

Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature

S. Saeed, G. Black, I. Bruce, 2020, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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

A. Jun, N. Ramanan, G. Black, 2012, Human molecular genetics.

Progressive external ophthalmoplegia

P. Yu-Wai-Man, G. Black, U. Kim, 2022, Clinical Ophthalmic Genetics and Genomics.

Small molecules restore the function of mutant CLC5 associated with Dent disease

R. Thakker, J. Lippiat, G. Black, 2020, Journal of cellular and molecular medicine.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes : Robust Phenotype Prediction from the Type and Position of GLI 3 Mutations

E. Zackai, L. Biesecker, J. Graham, 2005 .

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

L. Gaunt, G. Parkin, L. Willatt, 2010, European Journal of Human Genetics.

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

W. Newman, S. Kaye, E. McCann, 2005, American journal of medical genetics. Part A.

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

J. Clayton-Smith, E. McCann, S. Ramsden, 2010, British Journal of Ophthalmology.

Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.

W. Reardon, B. Kerr, G. Black, 2007, Clinical dysmorphology.

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

J. Clayton-Smith, W. Newman, P. Clayton, 2007, European journal of medical genetics.

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

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

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

L. Biesecker, C. Tifft, A. Wilkie, 2004, Nature Genetics.

Miikka Vikkula, Laurence M. Boon, Andrea Superti-Furga, 2001, Cell.

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

A. Stockman, C. Ripamonti, G. Holder, 2012, Investigative ophthalmology & visual science.

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

Jeffrey C Murray, Michael J Dixon, S. Bhaskar, 2011, American journal of human genetics.

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

F. Rieux-Laucat, J. Casanova, S. Lovell, 2010, Nature Genetics.

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

H. Stewart, G. Black, A. Ridgway, 2000, The British journal of ophthalmology.

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

A. Wright, V. Vitart, D. Armstrong, 2014, Human molecular genetics.

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

G. Pellegrini, W. McLean, C. Moore, 2014, Investigative ophthalmology & visual science.

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

V. Sheffield, M. Batterbury, E. Stone, 2001, Human molecular genetics.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

S. Ferdinandusse, H. Waterham, W. Newman, 2015, American journal of human genetics.

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

B. Kerr, E. Héon, F. Munier, 2002, Human molecular genetics.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

J. Clayton-Smith, L. Biesecker, Meredith Wilson, 2011, American journal of human genetics.

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

D. Schorderet, F. Munier, G. Black, 2007, British Journal of Ophthalmology.

Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

H. Stewart, M. Dixon, D. Schorderet, 2000, Investigative ophthalmology & visual science.

Mutations in HPSE2 cause urofacial syndrome.

W. Reardon, B. Gener, R. Kammerer, 2010, American journal of human genetics.

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

Elias I Traboulsi, Jill Clayton-Smith, Jean-Pierre Fryns, 2004, American journal of human genetics.

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

V. Sheffield, E. Stone, D. Nishimura, 2010, American journal of human genetics.

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

Dorothy A. Thompson, G. Holder, V. Plagnol, 2014, Investigative ophthalmology & visual science.

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

A. Stevens, D. Hanson, P. Clayton, 2013, Endocrine connections.

Mutations in HPSE 2 Identified in UFS Patients Family Ethnicity Nucleotide Change Exons

W. Reardon, B. Gener, W. Newman, 2010 .

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment

G. Black, F. Manson, Tal T. Sadeh, 2021, Frontiers in Genetics.

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.

S. Bhaskar, S. Sinha, J. Murray, 2012, American journal of human genetics.

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

J. Clayton-Smith, M. Tassabehji, L. Biesecker, 2011, American journal of human genetics.

Inherited eye disease: cause and late effect.

A. Read, G. Black, D. Trump, 2005, Trends in molecular medicine.

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

D. Baralle, S. Bhattacharya, A. Moore, 2004, Investigative ophthalmology & visual science.

Identifying biological pathways that underlie primordial short stature using network analysis

A. Stevens, D. Hanson, P. Clayton, 2014, Journal of molecular endocrinology.

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

Dian Donnai, Leslie G Biesecker, Dan Hanson, 2011, American journal of human genetics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

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

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

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

Julian R. E. Davis, T. Walsh, M. King, 2013, American journal of human genetics.

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Silke Rinkwitz, I. C. Lloyd, Marija Mihelec, 2015, Human molecular genetics.

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Julian N. Selley, G. G. Galli, H. Venselaar, 2015, Human molecular genetics.

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

Simon J. Clark, G. Black, V. Tilakaratna, 2018, Scientific Reports.

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Kang Zhang, David A Mackey, Carmel Toomes, 2004, Investigative ophthalmology & visual science.

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

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

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

I. C. Lloyd, P. Scambler, P. Tam, 2007, Human mutation.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Dian Donnai, Graeme C.M. Black, Nicolas Chassaing, 2007, Nature Genetics.

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

G. Holder, R. MacLaren, R. Burgess, 2008, Journal of Medical Genetics.

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

E. Zackai, J. Clayton-Smith, K. Millen, 2007, American journal of human genetics.

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

D. Evans, A. Freemont, C. Eng, 2003, Clinical endocrinology.

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.

M. Fichera, C. Romano, J. Clayton-Smith, 2009, American journal of human genetics.

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

Wendy S. Schackwitz, L. Pennacchio, Jiang Li, 2011, American journal of medical genetics. Part A.

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

S. Neuhauss, S. Banfi, M. Pizzo, 2015, Proceedings of the National Academy of Sciences.

Visual Acuity after Retinal Gene Therapy for Choroideremia.

G. Holder, K. Xue, R. MacLaren, 2016, The New England journal of medicine.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

G. Holder, R. Burgess, A. Webster, 2008, American journal of human genetics.

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

P. Brown, I. Millar, A. Davidson, 2011, Investigative ophthalmology & visual science.

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

S. Jacobson, M. McKibbin, A. Lotery, 2009, American journal of human genetics.

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

A. Webster, A. Moore, S. Ramsden, 2012, European Journal of Human Genetics.

Childhood-onset autosomal recessive bestrophinopathy.

Dorothy A. Thompson, G. Holder, A. Webster, 2011, Archives of ophthalmology.

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

G. Holder, M. Michaelides, G. Black, 2006, American journal of ophthalmology.

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

H. Brunner, F. Cremers, C. Hoyng, 2006, Investigative ophthalmology & visual science.

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

J. Clayton-Smith, G. Black, S. Biswas, 2019, Clinical dysmorphology.

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

Michael J Parker, Li Jiang, Richard Trembath, 2004, American journal of human genetics.

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

J. Clayton-Smith, S. Banka, G. Black, 2010, Clinical Dysmorphology.

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

G. Holder, V. Plagnol, F. Raymond, 2016, Investigative ophthalmology & visual science.

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

R. Horvath, P. Sergouniotis, G. Black, 2017, JAMA ophthalmology.

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

R. Gallego-Pinazo, N. Zoppi, M. Colombi, 2015, Orphanet Journal of Rare Diseases.

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

S. Mundlos, K. Siminovitch, J. Clayton-Smith, 2008, American journal of medical genetics. Part A.

Cav1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation

R. Baines, G. Black, F. Manson, 2023, Frontiers in Cell and Developmental Biology.

Vitreous phenotype: genotype correlation in Stickler syndrome

D. McLeod, P. Bishop, G. Black, 2001, Graefe's Archive for Clinical and Experimental Ophthalmology.

Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy

N. Parry, G. Black, A. Jalil, 2022, Eye.

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

J. Clayton-Smith, S. Ramsden, G. Black, 2000, The Lancet.

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

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

J. Clayton-Smith, D. Taylor, R. Winter, 2000, Investigative ophthalmology & visual science.

The ophthalmic findings in Cohen syndrome

I. C. Lloyd, K E Chandler, J. Clayton-Smith, 2002, The British journal of ophthalmology.

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

D. Hanson, P. Clayton, A. Whatmore, 2008, European journal of endocrinology.

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

J. Clayton-Smith, M. Cahill, D. McLeod, 1999, Human molecular genetics.

Dinucleotide repeat polymorphism at the MAOA locus.

I. Craig, J. Powell, G. Black, 1991, Nucleic acids research.

A mutation in the RIEG1 gene associated with Peters’ anomaly

G. Black, L. Wilson, I. C. Lloyd, 1999, Journal of medical genetics.

Leber's hereditary optic neuropathy: Implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation

T. Rosenberg, I. Craig, S. Norby, 1995, Eye.

The integration of genomics into clinical ophthalmic services in the UK

A. Lotery, G. Black, G. Black, 2019, Eye.

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

J. Pulido, O. Mahroo, G. Arno, 2020, Ophthalmology.

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

D. Ray, J. Favor, G. Black, 2007, Human molecular genetics.

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

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

S. Mansour, D. Hanson, S. Nampoothiri, 2012, Journal of Molecular Endocrinology.

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

H. Stewart, M. Dixon, G. Black, 1999, Ophthalmology.

Congenital hypertrophy of retinal pigment epithelium (CHRPE)

F. Lalloo, G. Black, 2022, Clinical Ophthalmic Genetics and Genomics.

A mutation in the RIEG1 gene associated with Peters’ anomaly

G. Black, L. Wilson, I. C. Lloyd, 1999, Journal of medical genetics.

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

G. Holder, R. MacLaren, R. Burgess, 2008, Journal of Medical Genetics.

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

S. Bhaskar, J. Murray, M. Barron, 2011, American Journal of Human Genetics.

Focus on molecules: lens intrinsic membrane protein (LIM2/MP20).

G. Black, F. Manson, G. Maher, 2012, Experimental eye research.

Mutations in COL8A2, the Gene Encoding the α2 Chain of Type VIII Collagen, Cause Two Forms of Corneal Endothelial Dystrophy

E. Stone, D. McLeod, F. Munier, 2002 .