List of works - Forbes Manson

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

scientific article

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

scientific article published on 8 July 2008

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

scientific article

Brittle cornea syndrome: recognition, molecular diagnosis and management

scientific article published on 4 May 2013

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

scientific article published on 01 September 2010

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

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

scientific article published on August 2007

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

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

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

scientific article

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

scientific article published on 19 February 2014

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

scientific article published in February 2006

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

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 a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

scientific article

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

Mutation to glutamine of histidine 373, the catalytic base of flavocytochrome b2 (L-lactate dehydrogenase)

scientific article published on 01 January 1995

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

scientific article published in August 2011

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

scientific article

RPGR-associated retinal degeneration in human X-linked RP and a murine model

scientific article

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

scientific article (publication date: November 2016)

Substitution of a haem-iron axial ligand in flavocytochrome b2.

scientific article

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

scientific article

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

List of works by Forbes Manson

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

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

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

Brittle cornea syndrome: recognition, molecular diagnosis and management

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

Childhood-Onset Autosomal Recessive Bestrophinopathy

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

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

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

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

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

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

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

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

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

Inherited eye disease: cause and late effect.

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

Mutation to glutamine of histidine 373, the catalytic base of flavocytochrome b2 (L-lactate dehydrogenase)

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

RPGR-associated retinal degeneration in human X-linked RP and a murine model

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

Substitution of a haem-iron axial ligand in flavocytochrome b2.

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

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