S. Roosing

发表

Salmonella induces prominent gene expression in the rat colon

R. van der Meer, M. Katan, W. Rodenburg, 2007, BMC Microbiology.

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

C. Klaver, F. Cremers, C. Hoyng, 2010, Investigative ophthalmology & visual science.

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

F. Riemslag, A. D. den Hollander, S. Bolz, 2012, American journal of human genetics.

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

S. Beck, Marina Garcia Garrido, V. Sothilingam, 2015, Nature Genetics.

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

C. Klaver, F. Cremers, C. Hoyng, 2009, Ophthalmology.

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

C. Klaver, A. D. den Hollander, F. Cremers, 2010, Ophthalmology.

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

Jeroen B. Klevering, C. Hoyng, P. Sergouniotis, 2020, Journal of Medical Genetics.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

C. Klaver, F. Riemslag, A. D. den Hollander, 2013, Ophthalmology.

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

D. Sharon, F. Cremers, W. Zein, 2022, Investigative ophthalmology & visual science.

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

C. Klaver, H. Stöhr, F. Cremers, 2020, JAMA ophthalmology.

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

B. J. Klevering, C. Klaver, A. D. den Hollander, 2015, Human mutation.

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

F. Cremers, S. Roosing, C. Ayuso, 2019, Human mutation.

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

F. Riemslag, A. D. den Hollander, F. Cremers, 2017, Genes.

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

C. Cremers, A. Beynon, H. Kremer, 2020, Journal of Medical Genetics.

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

C. Cremers, A. Beynon, H. Kremer, 2019, Journal of Medical Genetics.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

T. Strom, A. D. den Hollander, F. Cremers, 2010, Molecular vision.

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

C. Klaver, A. D. den Hollander, F. Cremers, 2015, Ophthalmology.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

E. van Wijk, T. Peters, H. Kremer, 2022, NPJ genomic medicine.

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

B. J. Klevering, F. Cremers, C. Hoyng, 2019, Molecular genetics & genomic medicine.

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

F. Cremers, C. Hoyng, S. Roosing, 2022, Investigative ophthalmology & visual science.

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

E. Souied, G. Querques, S. Roosing, 2015, European Journal of Human Genetics.

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

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

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

F. Baas, J. Gleeson, T. Ben-Omran, 2017, American journal of human genetics.

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

F. Riemslag, A. D. den Hollander, F. Cremers, 2009, Investigative ophthalmology & visual science.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

L. Vissers, A. Hoischen, I. Fajardy, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The genetics and disease mechanisms of rhegmatogenous retinal detachment

B. J. Klevering, A. D. den Hollander, S. Roosing, 2023, Progress in Retinal and Eye Research.

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

S. Roosing, M. Wagenmakers, J. Langendonk, 2019, Orphanet Journal of Rare Diseases.

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

N. Shomron, A. D. den Hollander, D. Sharon, 2015, Human molecular genetics.

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.

O. Schueler‐Furman, D. Sharon, B. Rosin, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

A. Hoischen, H. Kremer, F. Cremers, 2021, Human genetics.

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

H. Kremer, F. Cremers, S. Roosing, 2021, International journal of molecular sciences.

Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

F. Cremers, S. Roosing, Mubeen Khan, 2019, Methods in molecular biology.

Causes and consequences of inherited cone disorders

C. Klaver, F. Cremers, C. Hoyng, 2014, Progress in Retinal and Eye Research.

Cone dystrophies: enlightening the genetic spectrum

S. Roosing, 2014 .

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

S. Letteboer, R. Roepman, M. Ueffing, 2011, Human molecular genetics.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

C. Klaver, T. Strom, S. Nabuurs, 2009, American journal of human genetics.

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

C. Klaver, A. D. den Hollander, S. Letteboer, 2014, American journal of human genetics.

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

H. Kremer, D. Keegan, M. Damme, 2022, Human Genetics.

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

F. Cremers, M. McKibbin, C. Inglehearn, 2023, Genes.

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

E. van Wijk, H. Kremer, F. Cremers, 2021, International journal of molecular sciences.

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

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

A. Hoischen, C. Rivolta, P. Farinelli, 2022, Frontiers in Cell and Developmental Biology.

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

A. Hoischen, M. Nelen, F. Cremers, 2021, HGG advances.

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

F. Cremers, C. Hoyng, M. McKibbin, 2018, Genes.

Benchmarking deep learning splice prediction tools using functional splice assays

Tabea Riepe, Mubeen Khan, Susanne Roosing, 2020, Human mutation.

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

C. Klaver, F. Cremers, C. Hoyng, 2018, Investigative ophthalmology & visual science.

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

T. M. Phan, C. Klaver, A. D. den Hollander, 2012, Ophthalmology.

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

A. V. Vulto-van Silfhout, F. Cremers, S. Roosing, 2022, American journal of human genetics.

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

B. Lorenz, D. Fischer, F. Parmeggiani, 2021, Orphanet Journal of Rare Diseases.

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

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

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

Carsten Bergmann, Peter Nürnberg, Klaus Zerres, 2008, Human mutation.

Genetic risk estimates for offspring of patients with Stargardt disease

A. V. Vulto-van Silfhout, F. Cremers, S. Roosing, 2021, medRxiv.

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

F. Cremers, C. Gilissen, C. Hoyng, 2021, npj Genomic Medicine.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

F. Cremers, C. Gilissen, C. Hoyng, 2021, Journal of Medical Genetics.

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

H. Kremer, F. Cremers, C. Hoyng, 2018, Journal of Medical Genetics.

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

F. Cremers, C. Gilissen, S. Roosing, 2022, Cells.

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

E. van Wijk, H. Kremer, F. Cremers, 2022, International journal of molecular sciences.

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

Colin A. Johnson, S. Gabriel, T. Ideker, 2015, eLife.

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

J. Gleeson, S. Roosing, J. Silhavy, 2016, Human Genetics.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

L. Vissers, I. Fajardy, D. Sharon, 2023, HGG advances.

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

J. Veltman, A. D. den Hollander, F. Cremers, 2010, Investigative ophthalmology & visual science.

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

Tommaso Mazza, Jessica Rosati, William B Dobyns, 2017, American journal of human genetics.

Prenylation defects in inherited retinal diseases

A. D. den Hollander, F. Cremers, S. Roosing, 2014, Journal of Medical Genetics.

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

Caroline C W Klaver, Klaus Rohrschneider, Susanne Roosing, 2013, American journal of human genetics.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

E. van Wijk, H. Kremer, F. Cremers, 2022, npj Genomic Medicine.

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

D. Sharon, F. Cremers, Y. Rotenstreich, 2023, Molecular vision.

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

C. Klaver, L. Hoefsloot, C. Gilissen, 2023, Ophthalmology science.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

A. Need, C. Rivolta, M. Bleda, 2022, npj Genomic Medicine.

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

A. Hoischen, F. Cremers, C. Gilissen, 2022, medRxiv.

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

F. Cremers, D. Keegan, S. Roosing, 2023, Scientific reports.

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

K. Frazer, P. Sieving, A. Telenti, 2018, Human Genetics.

Genetics of glaucoma

S. Roosing, S. Micheal, Bjorn Bakker, 2018 .

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

C. Gilissen, S. Roosing, J. Ruiz-Ederra, 2023, Frontiers in genetics.