A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated With Non-syndromic Retinitis Pigmentosa
working-paper
Susanne Roosing
Publications
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance
Genes
journal-article
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance
Genes
journal-article
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis
Genes
journal-article
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms
Progress in Retinal and Eye Research
journal-article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Biomolecules
journal-article
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated With Non-syndromic Retinitis Pigmentosa
preprint
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa
Genes
journal-article
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa
Genes
journal-article
Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9
Current Issues in Molecular Biology
journal-article
Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9
Current Issues in Molecular Biology
journal-article
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
Genes
journal-article
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
Genes
journal-article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Human Genetics
journal-article
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
International Journal of Molecular Sciences
journal-article
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
International Journal of Molecular Sciences
journal-article
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner
Cells
journal-article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
NPJ genomic medicine
journal-article
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Human genetics
journal-article
Genetic risk estimates for offspring of patients with Stargardt disease
other
Benchmarking deep learning splice prediction tools using functional splice assays
Human Mutation
journal-article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
International Journal of Molecular Sciences
journal-article
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Journal of medical genetics
journal-article
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Orphanet journal of rare diseases
journal-article
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss
International Journal of Molecular Sciences
journal-article
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss
International Journal of Molecular Sciences
journal-article
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
American journal of human genetics
journal-article
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
JAMA ophthalmology
journal-article
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
Journal of medical genetics
journal-article
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
Journal of medical genetics
journal-article
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
Human Mutation
journal-article
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Orphanet journal of rare diseases
journal-article
The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy
Molecular Genetics & Genomic Medicine
journal-article
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Human genetics
journal-article
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
Journal of medical genetics
journal-article
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Investigative ophthalmology & visual science
journal-article
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
Genes
journal-article
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
Genes
journal-article
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
American Journal of Human Genetics
journal-article
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
American Journal of Human Genetics
journal-article
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
Human Genetics
journal-article
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Journal of Medical Genetics
journal-article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Nature Cell Biology
journal-article
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy
European Journal of Human Genetics
journal-article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Elife
journal-article
Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant
Human Mutation
journal-article
Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy
Ophthalmology
journal-article
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Nature Genetics
journal-article
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia (vol 47, pg 757, 2015)
Nature Genetics
journal-article
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
Human Molecular Genetics
journal-article
Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells
Investigative Ophthalmology & Visual Science
journal-article
Causes and consequences of inherited cone disorders
Progress in Retinal and Eye Research
journal-article
Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy
American Journal of Human Genetics
journal-article
Prenylation defects in inherited retinal diseases
Journal of Medical Genetics
journal-article
Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction
Ophthalmology
journal-article
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
American Journal of Human Genetics
journal-article
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
American Journal of Human Genetics
journal-article
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy
Ophthalmology
journal-article
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
Human Molecular Genetics
journal-article
Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy
Ophthalmology
journal-article
Homozygosity Mapping in Patients with Cone-Rod Dystrophy: Novel Mutations and Clinical Characterizations
Investigative Ophthalmology & Visual Science
journal-article
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
Molecular Vision
journal-article
Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography
Investigative Ophthalmology & Visual Science
journal-article
A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone-Rod Synaptic Disorder
Investigative Ophthalmology & Visual Science
journal-article
Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia
Ophthalmology
journal-article
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
American Journal of Human Genetics
journal-article
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
Human Mutation
journal-article
Salmonella induces prominent gene expression in the rat colon
Bmc Microbiology
journal-article