List of works - Sharon Schwartz

ABCA4 disease progression and a proposed strategy for gene therapy

scientific article published on 12 December 2008

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

scientific article published in December 2005

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

scientific article published on 28 December 2011

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

scientific article

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

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

scientific article

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

scientific article (publication date: May 2003)

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

scientific article

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

scientific article published on 30 December 2008

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

scientific article published on 3 October 2012

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

scientific 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

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

scientific article

Human cone photoreceptor dependence on RPE65 isomerase

scientific article

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

scholarly article

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

scientific article published on 5 January 2011

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

scientific article

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

scientific article published on 20 March 2014

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

scientific article

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

scientific article published on 16 February 2007

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

scientific article

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

scientific article published on March 2007

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

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

scientific article

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

scientific article

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

scientific article published in May 2017

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

scientific article published on 6 June 2008

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front

scientific article

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

scientific article published on 24 February 2015

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

scientific article

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

scientific article

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

scientific article published on May 2007

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

article

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

scientific article

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

scientific article

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

scientific article

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones

scientific article

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

scientific article published on January 2011

Weighing the evidence for harm from long-term treatment with antipsychotic medications: A systematic review.

scientific article

List of works by Sharon Schwartz

ABCA4 disease progression and a proposed strategy for gene therapy

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

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

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

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

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

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

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

Human cone photoreceptor dependence on RPE65 isomerase

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

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

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

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

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

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

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

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

Weighing the evidence for harm from long-term treatment with antipsychotic medications: A systematic review.