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ARVO Annual Meeting Abstract June 2023

CNIH4 variants are associated with pigment dispersion syndrome in humans and pigment abnormalities in zebrafish

Shi Song Rong; Anna Larson; John Simmons Borchert; Mark Simcoe; Nicole Weisschuh; Christopher J Hammond; Pirro G Hysi; Robert Ritch; Emmanuelle Souzeau; Jamie E Craig; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4358.

ARVO Annual Meeting Abstract June 2022

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with inherited optic atrophy

Ting XIAO; Sinja Kieninger; Nicole Weisschuh; Susanne Kohl; Klaus Rüther; Peter Kroisel; Tobias Brockmann; Steffi Knappe; Ulrich Kellner; Wolf Lagrèze; Pascale Mazzola; Tobias Haack; Bernd Wissinger; Felix Tonagel

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1211 – A0211.

ARVO Annual Meeting Abstract June 2022

Central Visual Function and Genotype-Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa in Preparation for a Gene Supplemental Trial

Ditta Zobor; Torsten Strasser; Gunnar Blumenstock; Katarina Stingl; M. Dominik Fischer; Barbara Wilhelm; Eberhart Zrenner; Bernd Wissinger; Susanne Kohl; Nicole Weisschuh; Laura Kuehlewein

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4499 – F0286.

Genetics May 2022

Central Visual Function and Genotype–Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa

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Laura Kuehlewein; Torsten Straßer; Gunnar Blumenstock; Katarina Stingl; M. Dominik Fischer; Barbara Wilhelm; Eberhart Zrenner; Bernd Wissinger; Susanne Kohl; Nicole Weisschuh; Ditta Zobor; for the RD-CURE Consortium
TAGS: genotype, genotype-phenotype associations, pde6a gene, phenotype, retinitis pigmentosa, vision, color vision, genetics, eye
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):9. https://doi.org/10.1167/iovs.63.5.9

ARVO Annual Meeting Abstract June 2021

A Deep Intronic Substitution in CNGB3 is One of the Major Causes of Achromatopsia among Jewish Patients

Hamzah Aweidah; Manar Salameh; Claudia Yahalom; Anat Blumenfeld; Michal Macarov; Nicole Weisschuh; Susanne Kohl; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):4.

ARVO Annual Meeting Abstract June 2021

Genetic analyses identify the first two genetic loci associated with sporadic pigment dispersion syndrome and indicate myopia is a causal factor for disease onset

Mark James Simcoe; Baojian Fan; naushin waseem; Nicole Weisschuh; Omar Abdul Rahman Mahroo; Helene Choquet; Janey L Wiggs; David F Garway-Heath; Pirro G Hysi; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1591.

ARVO Annual Meeting Abstract June 2021

Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel missense variant

Ulrich Kellner; Nicole Weisschuh; Silke Weinitz; Ghazaleh Farmand; Sebastian Deutsch; Friederike Kortüm; Pascale Mazzola; Karin Schäferhoff; Valerio Marino; Daniele Dell`Orco

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3220.

ARVO Annual Meeting Abstract June 2020

Deep-intronic variants in CNGB3 are an important cause of CNGB3 -related autosomal recessive achromatopsia

Susanne Kohl; Marc Sturm; Britta Baumann; Bernd Wissinger; Nicole Weisschuh

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2392.

Articles December 2019

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

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Krunoslav T. Stingl; Laura Kuehlewein; Nicole Weisschuh; Saskia Biskup; Frans P. M. Cremers; M. Imran Khan; Carina Kelbsch; Tobias Peters; Marius Ueffing; Barbara Wilhelm; Eberhart Zrenner; Katarina Stingl
TAGS: eye, illness length, mutation, pupil reaction, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2019; 8(6):45. https://doi.org/10.1167/tvst.8.6.45

ARVO Annual Meeting Abstract July 2019

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Miriam Bauwens; Alex Garanto; Riccardo Sangermano; Sarah Naessens; Nicole Weisschuh; Julie De Zaeytijd; Mubeen Khan; Françoise Sadler; Susanne Kohl; Bernd Wissinger; timothy cherry; Rob W J Collin; Frans P Cremers; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):377.

ARVO Annual Meeting Abstract July 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811.

ARVO Annual Meeting Abstract July 2018

Phenotypic heterogeneity of retinal degenerations caused by mutations in CRX examined by multimodal clinical imaging including adaptive optics retinal camera

Katarina Stingl; Laura Kuehlewein; Melanie Kempf; Francoise Sadler; Fadi Nasser; Bernd Wissinger; Susanne Kohl; Nicole Weisschuh; Marius Ueffing; Eberhart Zrenner

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1516.

ARVO Annual Meeting Abstract July 2018

First Gene Supplementation Therapy for CNGA3-linked Achromatopsia

M Dominik Fischer; Stylianos Michalakis; Barbara Wilhelm; Nadine Kahle; Tobias Peters; Karl Ulrich Bartz-Schmidt; Susanne Kohl; Mathias W Seeliger; Nicole Weisschuh; Ditta Zobor; Eberhart Zrenner; Marius Ueffing; Martin Biel; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2982.

ARVO Annual Meeting Abstract July 2018

CEP290 mutation spectrum in Germany and delineation of the associated phenotype

Ditta Zobor; Britta Feldhaus; Nicole Weisschuh; Fadi Nasser; Eberhart Zrenner; Susanne Kohl

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):23.

ARVO Annual Meeting Abstract July 2018

Leber congenital amaurosis (LCA): Prevalence of mutations in a large German cohort and clinical characterization of the associated phenotype

Britta Feldhaus; Susanne Kohl; Nicole Weisschuh; Fadi Nasser; Eberhart Zrenner; Ditta Zobor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1832.

Retina June 2018

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

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Ditta Zobor; Gergely Zobor; Stephanie Hipp; Britta Baumann; Nicole Weisschuh; Saskia Biskup; Ieva Sliesoraityte; Eberhart Zrenner; Susanne Kohl
TAGS: cohort studies, genes, german, mutation, phenotype, spectral domain-optical coherence tomography, heterozygote, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2018; 59(7):3041-3052. https://doi.org/10.1167/iovs.18-24033

ARVO Annual Meeting Abstract June 2017

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Miriam Bauwens; Riccardo Sangermano; Timothy Cherry; Van Cauwenbergh Caroline; José Luis Gómez-Skarmeta; Nicole Weisschuh; Susanne Kohl; Bart Peter Leroy; Frans P Cremers; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):580.

ARVO Annual Meeting Abstract June 2017

Genetic heritability and associations of Pigmentary Glaucoma

Mark James Simcoe; Abhishek Nag; Ekaterina Yonova; Katie M Williams; Bernd Wissinger; Christopher J Hammond; Nicole Weisschuh; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):186.

ARVO Annual Meeting Abstract September 2016

Clinical characterization and genotype-phenotype correlations in PDE6A -related retinitis pigmentosa

Ditta Zobor; Laura Kühlewein; Nicole Weisschuh; Christian P Hamel; Bart Peter Leroy; Sten Andreasson; Ayuso Carmen; Günther Rudolph; Bernd Wissinger; Susanne Kohl; Eberhart Zrenner

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):152.

ARVO Annual Meeting Abstract September 2016

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam Bauwens; Nicole Weisschuh; Chantal Ceuterick-de Groote; Riet De Rycke; Susanne Kohl; Frauke Coppieters; Arnaud Vanlander; Rudy Van Coster; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):667.

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CNIH4 variants are associated with pigment dispersion syndrome in humans and pigment abnormalities in zebrafish

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with inherited optic atrophy

Central Visual Function and Genotype-Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa in Preparation for a Gene Supplemental Trial

Central Visual Function and Genotype–Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa

A Deep Intronic Substitution in CNGB3 is One of the Major Causes of Achromatopsia among Jewish Patients

Genetic analyses identify the first two genetic loci associated with sporadic pigment dispersion syndrome and indicate myopia is a causal factor for disease onset

Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel missense variant

Deep-intronic variants in CNGB3 are an important cause of CNGB3 -related autosomal recessive achromatopsia

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

CPH1, a new gene for Dominant Optic Atrophy

Phenotypic heterogeneity of retinal degenerations caused by mutations in CRX examined by multimodal clinical imaging including adaptive optics retinal camera

First Gene Supplementation Therapy for CNGA3-linked Achromatopsia

CEP290 mutation spectrum in Germany and delineation of the associated phenotype

Leber congenital amaurosis (LCA): Prevalence of mutations in a large German cohort and clinical characterization of the associated phenotype

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Genetic heritability and associations of Pigmentary Glaucoma

Clinical characterization and genotype-phenotype correlations in PDE6A -related retinitis pigmentosa

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

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