Nicole Weisschuh

Otfried Müller Str. 25
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 86 publications

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.

Journal: BMC ophthalmology

Published: January 21, 2025

Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.

Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.

Journal: The Journal of pathology

Published: October 29, 2024

Safety and vision outcomes of subretinal gene supplementation therapy in PDE6A-associated retinitis pigmentosa: a non-randomised controlled trial.

Safety and vision outcomes of subretinal gene supplementation therapy in PDE6A-associated retinitis pigmentosa: a non-randomised controlled trial.

Journal: The British journal of ophthalmology

Published: September 11, 2024

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Journal: Frontiers in genetics

Published: July 24, 2024

Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.

Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.

Journal: American journal of ophthalmology

Published: November 19, 2023

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

Journal: Scientific reports

Published: September 27, 2023

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Journal: Journal of medical genetics

Published: June 20, 2023

Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.

Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.

Journal: European journal of ophthalmology

Published: May 23, 2023

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Journal: International journal of molecular sciences

Published: April 08, 2023

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.

Journal: International journal of molecular sciences

Published: January 04, 2023

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Journal: HGG advances

Published: October 11, 2022

Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.

Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.

Journal: Molecular genetics & genomic medicine

Published: September 02, 2022

Showing 1-12 of 86

Last Updated: 09/26/2026