Susanne Roosing

About

Publications

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated With Non-syndromic Retinitis Pigmentosa

Summary

working-paper

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance

Jan 2025

Published by

Genes

Summary

journal-article

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance

Jan 2025

Published by

Genes

Summary

journal-article

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis

Jan 2025

Published by

Genes

Summary

journal-article

Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms

Jan 2025

Published by

Progress in Retinal and Eye Research

Summary

journal-article

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Jan 2024

Published by

Biomolecules

Summary

journal-article

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated With Non-syndromic Retinitis Pigmentosa

Jan 2024

Summary

preprint

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa

Jan 2024

Published by

Genes

Summary

journal-article

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa

Jan 2024

Published by

Genes

Summary

journal-article

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9

Jan 2024

Published by

Current Issues in Molecular Biology

Summary

journal-article

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9

Jan 2024

Published by

Current Issues in Molecular Biology

Summary

journal-article

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Jan 2023

Published by

Genes

Summary

journal-article

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Jan 2023

Published by

Genes

Summary

journal-article

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Jan 2022

Published by

Human Genetics

Summary

journal-article

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Jan 2022

Published by

International Journal of Molecular Sciences

Summary

journal-article

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Jan 2022

Published by

International Journal of Molecular Sciences

Summary

journal-article

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Jan 2022

Published by

Cells

Summary

journal-article

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Jan 2021

Published by

NPJ genomic medicine

Summary

journal-article

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Jan 2021

Published by

Human genetics

Summary

journal-article

Genetic risk estimates for offspring of patients with Stargardt disease

Jan 2021

Summary

other

Benchmarking deep learning splice prediction tools using functional splice assays

Jan 2021

Published by

Human Mutation

Summary

journal-article

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

Jan 2021

Published by

International Journal of Molecular Sciences

Summary

journal-article

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Jan 2021

Published by

Journal of medical genetics

Summary

journal-article

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

Jan 2021

Published by

Orphanet journal of rare diseases

Summary

journal-article

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

Jan 2021

Published by

International Journal of Molecular Sciences

Summary

journal-article

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

Jan 2021

Published by

International Journal of Molecular Sciences

Summary

journal-article

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

Jan 2020

Published by

American journal of human genetics

Summary

journal-article

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Jan 2020

Published by

JAMA ophthalmology

Summary

journal-article

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Jan 2020

Published by

Journal of medical genetics

Summary

journal-article

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

Jan 2020

Published by

Journal of medical genetics

Summary

journal-article

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Jan 2019

Published by

Human Mutation

Summary

journal-article

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

Jan 2019

Published by

Orphanet journal of rare diseases

Summary

journal-article

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

Jan 2019

Published by

Molecular Genetics & Genomic Medicine

Summary

journal-article

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Jan 2018

Published by

Human genetics

Summary

journal-article

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

Jan 2018

Published by

Journal of medical genetics

Summary

journal-article

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

Jan 2018

Published by

Investigative ophthalmology & visual science

Summary

journal-article

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

Jan 2018

Published by

Genes

Summary

journal-article

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

Jan 2017

Published by

Genes

Summary

journal-article

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Jan 2017

Published by

American Journal of Human Genetics

Summary

journal-article

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Jan 2017

Published by

American Journal of Human Genetics

Summary

journal-article

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

Jan 2016

Published by

Human Genetics

Summary

journal-article

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Jan 2016

Published by

Journal of Medical Genetics

Summary

journal-article

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Jan 2015

Published by

Nature Cell Biology

Summary

journal-article

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy

Jan 2015

Published by

European Journal of Human Genetics

Summary

journal-article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Jan 2015

Published by

Elife

Summary

journal-article

Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

Jan 2015

Published by

Human Mutation

Summary

journal-article

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Jan 2015

Published by

Ophthalmology

Summary

journal-article

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

Jan 2015

Published by

Nature Genetics

Summary

journal-article

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia (vol 47, pg 757, 2015)

Jan 2015

Published by

Nature Genetics

Summary

journal-article

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Jan 2015

Published by

Human Molecular Genetics

Summary

journal-article

Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Jan 2015

Published by

Investigative Ophthalmology & Visual Science

Summary

journal-article

Causes and consequences of inherited cone disorders

Jan 2014

Published by

Progress in Retinal and Eye Research

Summary

journal-article

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Jan 2014

Published by

American Journal of Human Genetics

Summary

journal-article

Prenylation defects in inherited retinal diseases

Jan 2014

Published by

Journal of Medical Genetics

Summary

journal-article

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

Jan 2013

Published by

Ophthalmology

Summary

journal-article

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

Jan 2013

Published by

American Journal of Human Genetics

Summary

journal-article

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Jan 2012

Published by

American Journal of Human Genetics

Summary

journal-article

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy

Jan 2012

Published by

Ophthalmology

Summary

journal-article

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase

Jan 2011

Published by

Human Molecular Genetics

Summary

journal-article

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

Jan 2010

Published by

Ophthalmology

Summary

journal-article

Homozygosity Mapping in Patients with Cone-Rod Dystrophy: Novel Mutations and Clinical Characterizations

Jan 2010

Published by

Investigative Ophthalmology & Visual Science

Summary

journal-article

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

Jan 2010

Published by

Molecular Vision

Summary

journal-article

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

Jan 2010

Published by

Investigative Ophthalmology & Visual Science

Summary

journal-article

A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone-Rod Synaptic Disorder

Jan 2009

Published by

Investigative Ophthalmology & Visual Science

Summary

journal-article

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

Jan 2009

Published by

Ophthalmology

Summary

journal-article

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Jan 2009

Published by

American Journal of Human Genetics

Summary

journal-article

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Jan 2008

Published by

Human Mutation

Summary

journal-article

Salmonella induces prominent gene expression in the rat colon

Jan 2007

Published by

Bmc Microbiology

Summary

journal-article

Susanne Roosing

About

Publications

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated With Non-syndromic Retinitis Pigmentosa

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance

Minigene Splice Assays Allow Pathogenicity Reclassification of <i>RPE65</i> Variants of Uncertain Significance

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis

Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated With Non-syndromic Retinitis Pigmentosa

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa

A Leaky Deep Intronic Splice Variant in <i>CLRN1</i> Is Associated with Non-Syndromic Retinitis Pigmentosa

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i>

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i>

The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Genetic risk estimates for offspring of patients with Stargardt disease

Benchmarking deep learning splice prediction tools using functional splice assays

Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

<i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Pathogenic variants in <i>IMPG1</i> cause autosomal dominant and autosomal recessive retinitis pigmentosa.

A <i>RIPOR2</i> in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

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

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia (vol 47, pg 757, 2015)

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Causes and consequences of inherited cone disorders

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Prenylation defects in inherited retinal diseases

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

Homozygosity Mapping in Patients with Cone-Rod Dystrophy: Novel Mutations and Clinical Characterizations

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone-Rod Synaptic Disorder

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Salmonella induces prominent gene expression in the rat colon