List of works - Richard G Weleber

A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis

scientific article published on 01 July 2018

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

scientific article published on 28 December 2011

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

scientific article

Clinical diagnoses that overlap with choroideremia

scientific article

Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

scientific article

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis ⬇️

scientific article published on July 29, 2012

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

scientific article

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

scientific article published on 5 October 2018

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

scientific article

Long-Term Investigation of Retinal Function in Patients with Achromatopsia

scientific article published on 01 September 2020

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

scientific article

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

scientific article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

scientific article published on 19 July 2012

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

Quantification of the Visual Field Loss in Retinitis Pigmentosa Using Semi-Automated Kinetic Perimetry

scientific article published on 15 October 2015

The Effect of Multispot Laser Panretinal Photocoagulation on Retinal Sensitivity and Driving Eligibility in Patients With Diabetic Retinopathy

scientific article

Variability in isopter position and fatigue during semi-automated kinetic perimetry

scientific article published on 28 December 2011

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

scientific article published on February 2013

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

scientific article

List of works by Richard G Weleber

A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Clinical diagnoses that overlap with choroideremia

Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis ⬇️

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

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Long-Term Investigation of Retinal Function in Patients with Achromatopsia

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

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Quantification of the Visual Field Loss in Retinitis Pigmentosa Using Semi-Automated Kinetic Perimetry

The Effect of Multispot Laser Panretinal Photocoagulation on Retinal Sensitivity and Driving Eligibility in Patients With Diabetic Retinopathy

Variability in isopter position and fatigue during semi-automated kinetic perimetry

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa