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Meeting Abstract (9)
Journal Articles (3)

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Investigative Ophthalmology & Visual Science (12)

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ARVO Annual Meeting Abstract (9)
Retina (2)
Biochemistry and Molecular Biology (1)

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Genetics (3)
Retina (2)
Biochemistry and Molecular Biology (1)
Eye Anatomy and Disorders (1)
Visual Psychophysics and Physiological Optics (1)

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genes (3)
mutation (3)
phenotype (2)
achromatopsia (1)
cohort studies (1)
color vision (1)
cone dystrophy (1)
cousin (1)
electroretinography (1)
genetics, molecular (1)

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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.

ARVO Annual Meeting Abstract June 2020

Genetic Basis of Brazilian Achromatopsia Patients

Fernanda Belga Ottoni Porto; Shirley M Sampaio; Britta Baumann; Yumei Li; Renata Simoes; Stephen Tsang; Rui Chen; Susanne Kohl

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4467.

ARVO Annual Meeting Abstract June 2020

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

Kyle Kim; Eun-Jin Lee; Wei-Chieh Chiang; Heike Kroeger; Chloe Xiaoke Bi; Daniel L Chao; Rebecca Mastey; Stephen Tsang; Leon Chea; Britta Baumann; Isabelle S Audo; Susanne Kohl; Anthony Moore; Luke Wiseman; Joseph Carroll; Jonathan H Lin

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2393.

ARVO Annual Meeting Abstract July 2019

Digenic triallelic inheritance in cone photoreceptor cyclic nucleotide gated channel associated retinopathies

Susanne Kohl; Markus Burkard; Timm Kraetzig; Naoyuki Tanimoto; Britta Baumann; Martin Biel; Robert Lukowski; Mathias W Seeliger; Stylianos Michalakis; Bernd Wissinger; Peter Ruth

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):419.

ARVO Annual Meeting Abstract July 2018

Copy number variations in CNGB3 -linked autosomal recessive achromatopsia

Susanne Kohl; Anja K. Mayer; caroline Van Cauwenbergh; Christine Rother; Britta Baumann; Peggy Reuter; Elfride De Baere; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6044.

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

Uniparental isodisomy of chromosome 2 in CNGA3 -associated achromatopsia

Susanne Kohl; Britta Baumann; Anja-Kathrin Mayer; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2782.

ARVO Annual Meeting Abstract June 2015

OPN1LW/MW exon 3 haplotypes associated with Blue Cone Monochromacy disrupt exonic regulatory elements of splicing and can arise by gene conversion

Elena Buena-Atienza; Britta Baumann; Nicole Weisschuh; Klaus W Ruether; Susanne Kohl; Bernd Wissinger; BCM Study Group

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2886.

ARVO Annual Meeting Abstract June 2013

Exon 3 genotypes of OPN1LW/OPN1MW associated with X-linked congenital cone dysfunction

Susanne Kohl; Britta Baumann; Christian Hamel; Peter Gustavsson; Thomas Rosenberg; Astrid Plomp; Bart Leroy; Joke BGM Verheij; Bernd Wissinger; BCM Study Group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1320.

ARVO Annual Meeting Abstract April 2011

Disease Gene Prevalences And Mutation Spectra In Autosomal Recessive Achromatopsia

Susanne Kohl; Tanja Grau; Simone Schaich; Britta Baumann; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5382.

Retina February 2008

Cone Dystrophy with Supernormal Rod Response Is Strictly Associated with Mutations in KCNV2

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Bernd Wissinger; Susann Dangel; Herbert Jägle; Lars Hansen; Britta Baumann; Günther Rudolph; Christiane Wolf; Michael Bonin; Katja Koeppen; Thomas Ladewig; Susanne Kohl; Eberhart Zrenner; Thomas Rosenberg
TAGS: cone dystrophy, mutation, rod photoreceptors, genes, screening
Invest. Ophthalmol. Vis. Sci.. 2008; 49(2):751-757. https://doi.org/10.1167/iovs.07-0471

Biochemistry and Molecular Biology December 2004

Variant Phenotypes of Incomplete Achromatopsia in Two Cousins with GNAT2 Gene Mutations

PDF

Thomas Rosenberg; Britta Baumann; Susanne Kohl; Eberhart Zrenner; Arne Lund Jorgensen; Bernd Wissinger
TAGS: achromatopsia, cousin, mutation, phenotype, retinal cone, proband, genes, color vision, genetics, molecular
Invest. Ophthalmol. Vis. Sci.. 2004; 45(12):4256-4262. https://doi.org/10.1167/iovs.04-0317

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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