List of works - Edwin M. Stone

Identification of a gene that causes primary open angle glaucoma.

scientific article

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

scientific article

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

scholarly article

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

scientific article

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

article

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

scientific article

Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle.

scientific article published in March 1983

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

scientific article

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

scientific article

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

scientific article published on 13 July 2017

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

scientific article published on June 1, 1998

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

Scientific journal article

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

scientific article published on 01 May 1993

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

scientific article

Missense variations in the fibulin 5 gene and age-related macular degeneration

scientific article

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

scientific article

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

scientific journal article

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

scientific article

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

scientific article

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

scientific article

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man

scientific article published on June 9, 1998

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

scientific article published in June 2001

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

scientific article

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

scientific article published in December 1997

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

scientific article

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

scientific article published on July 2000

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

scientific article

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

scientific article published on 6 January 2004

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

article

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

scientific article

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

scientific journal article

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

scientific article

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

scientific article

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

scientific article

Myocilin glaucoma

scientific article

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

scientific article

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

scientific article (publication date: August 1994)

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

scientific article (publication date: May 2003)

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans

scientific article published on 30 August 2006

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

scientific article

Photoreceptor structure and function in patients with congenital achromatopsia.

scientific article

Human cone photoreceptor dependence on RPE65 isomerase

scientific article

Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer photoreceptor-mediated pupil light reflex.

scientific article

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

scientific article

Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab.

scientific article published on 22 May 2013

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

scientific article published on 01 December 1998

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

scientific article

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

scientific article

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

scientific article published on May 2007

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

scientific article published on 27 August 2013

List of works by Edwin M. Stone

Identification of a gene that causes primary open angle glaucoma.

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle.

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

Missense variations in the fibulin 5 gene and age-related macular degeneration

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

Myocilin glaucoma

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

Photoreceptor structure and function in patients with congenital achromatopsia.

Human cone photoreceptor dependence on RPE65 isomerase

Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer photoreceptor-mediated pupil light reflex.

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab.

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa