List of works - Susanne Kohl

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

scientific article

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

scientific article published on 20 February 2008

Achromatopsia

scientific article published in June 2010

Achromatopsia mutations target sequential steps of ATF6 activation.

scientific article published on 27 December 2016

Achromatopsia: on the doorstep of a possible therapy

scientific article (publication date: 2015)

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

scientific article

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

scientific article published in January 2015

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

scientific article published on 27 July 2016

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations ⬇️

scientific article published on 12 December 2019

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

scientific article published on 16 August 2017

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

scientific article

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials

scientific article

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

scientific article

CDHR1 mutations in retinal dystrophies

scientific article published on August 2017

CNGA3 mutations in hereditary cone photoreceptor disorders

scientific article

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

scientific article

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

scientific article published on 10 August 2017

CNGB3 mutations cause severe rod dysfunction

scientific article

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

scientific article published on 12 July 2013

Clinical utility gene card for: blue cone monochromatism

scientific article

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

scientific article published in August 2008

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

scientific article

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

scientific article published on 24 June 2016

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

scientific article published on December 2010

Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia.

scientific article published in February 2017

Diagnostic fundus autofluorescence patterns in achromatopsia.

scientific article published on 20 August 2013

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel

scientific article

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

scientific article

Endoplasmic reticulum stress in human photoreceptor diseases.

scientific article published on 23 April 2016

Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy

scientific article published on 19 August 2012

GPR98 mutations cause Usher syndrome type 2 in males.

scientific article published in April 2009

GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE–ROD DYSTROPHY

scientific article published on 01 August 2014

Genes and Mutations in Autosomal Dominant Cone and Cone-Rod Dystrophy

article

Genetic causes of hereditary cone and cone-rod dystrophies

scientific article published in February 2009

Genetic diagnostic testing in inherited retinal dystrophies

scientific article

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

scientific article

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

scientific article published in 2022

Genotyping microarray for CSNB-associated genes.

scientific article

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

scientific article published on September 2017

High-resolution in vivo imaging in achromatopsia.

scientific article published on 6 January 2011

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation

scientific article published on 8 July 2015

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

scientific article

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

scientific article

IQCB1 mutations in patients with leber congenital amaurosis.

scientific article

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

scientific article (publication date: 2016)

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

article

Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygousp.G461RMutation ofKCNV2

Molecular basis of an inherited form of incomplete achromatopsia.

scientific article

Morphology and functional characteristics in adult vitelliform macular dystrophy.

scientific article published in December 2004

Multimodal assessment of choroideremia patients defines pre-treatment characteristics

scientific article

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

scientific article

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

scientific article published on 16 May 2008

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

scientific article

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

scientific article

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

scientific article published in October 2008

Mutations in IMPG1 cause vitelliform macular dystrophies.

scientific article published on 29 August 2013

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

scientific article published in August 2009

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

scientific article

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.

scientific article published on 8 May 2017

Oligocone trichromacy: clinical and molecular genetic investigations.

scientific article published on 24 September 2009

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene

scientific article published on 30 November 2017

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

scientific article published on September 2010

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

scientific article published on 17 April 2013

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene

scientific article

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

scientific article published on 26 November 2008

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

scientific article published on 9 June 2016

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

scientific article

Retinal Development in Infants and Young Children with Achromatopsia.

scientific article

Rod and cone function in patients with KCNV2 retinopathy

scientific article

Sleep and circadian phenotype in people without cone-mediated vision

scientific article

Sleep and circadian phenotype in people without cone-mediated vision: a case series of five <i>CNGB3</i> and two <i>CNGA3</i> patients

scientific article published on 16 July 2021

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

scientific article published on April 2014

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

scientific article

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

scientific article published in February 2017

The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway

scientific journal article

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

scientific journal article

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

scientific article

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

scientific article

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

scientific article published in July 2012

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

scientific article

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

scientific article

List of works by Susanne Kohl

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Achromatopsia

Achromatopsia mutations target sequential steps of ATF6 activation.

Achromatopsia: on the doorstep of a possible therapy

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations ⬇️

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

CDHR1 mutations in retinal dystrophies

CNGA3 mutations in hereditary cone photoreceptor disorders

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

CNGB3 mutations cause severe rod dysfunction

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

Clinical utility gene card for: blue cone monochromatism

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia.

Diagnostic fundus autofluorescence patterns in achromatopsia.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

Endoplasmic reticulum stress in human photoreceptor diseases.

Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy

GPR98 mutations cause Usher syndrome type 2 in males.

GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE–ROD DYSTROPHY

Genes and Mutations in Autosomal Dominant Cone and Cone-Rod Dystrophy

Genetic causes of hereditary cone and cone-rod dystrophies

Genetic diagnostic testing in inherited retinal dystrophies

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

Genotyping microarray for CSNB-associated genes.

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

High-resolution in vivo imaging in achromatopsia.

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

IQCB1 mutations in patients with leber congenital amaurosis.

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygousp.G461RMutation ofKCNV2

Molecular basis of an inherited form of incomplete achromatopsia.

Morphology and functional characteristics in adult vitelliform macular dystrophy.

Multimodal assessment of choroideremia patients defines pre-treatment characteristics

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.

Oligocone trichromacy: clinical and molecular genetic investigations.

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Retinal Development in Infants and Young Children with Achromatopsia.

Rod and cone function in patients with KCNV2 retinopathy

Sleep and circadian phenotype in people without cone-mediated vision

Sleep and circadian phenotype in people without cone-mediated vision: a case series of five <i>CNGB3</i> and two <i>CNGA3</i> patients

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel