R. Collin

发表

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

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

Novel compound heterozygous NMNAT 1 variants associated with Leber congenital amaurosis

Frans, Susanne, B. J. Klevering, 2017 .

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

J. Schuurs-Hoeijmakers, B. D. de Vries, F. Riemslag, 2014, JAMA ophthalmology.

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

B. J. Klevering, A. D. den Hollander, T. Rosenberg, 2014, Molecular vision.

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

J. Lupski, G. Mardon, A. D. den Hollander, 2009, American journal of human genetics.

IQCB1 mutations in patients with leber congenital amaurosis.

S. Jacobson, A. D. den Hollander, E. Zrenner, 2011, Investigative ophthalmology & visual science.

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa

A. D. den Hollander, F. Cremers, H. Venselaar, 2012, Molecular vision.

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.

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

A. D. den Hollander, F. Cremers, N. Waheed, 2015, PloS one.

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.

Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1–2q23.3

H. Kremer, R. Pennings, R. Collin, 2013, Hearing Research.

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

A. J. Roman, Ian C. Han, A. Cideciyan, 2022, Nature Medicine.

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

A. D. den Hollander, F. Cremers, R. Collin, 2012, Molecular vision.

PNAS201903125 1..10

S. Letteboer, R. Roepman, U. Wolfrum, 2020 .

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

S. Letteboer, R. Roepman, U. Wolfrum, 2020, Proceedings of the National Academy of Sciences.

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

B. J. Klevering, L. I. van den Born, R. Collin, 2018, International journal of molecular sciences.

Non-syndromic retinitis pigmentosa

B. J. Klevering, Jeroen B. Klevering, C. Klaver, 2018, Progress in Retinal and Eye Research.

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.

C. Klaver, W. V. van Zelst-Stams, L. I. van den Born, 2019, Investigative ophthalmology & visual science.

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

C. Cremers, H. Kremer, R. Collin, 2008, Archives of otolaryngology--head & neck surgery.

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

F. Cremers, R. Allikmets, R. Collin, 2020, Progress in Retinal and Eye Research.

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

F. Cremers, C. Hoyng, E. De Baere, 2016, Ophthalmology.

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

F. Cremers, D. Lugtenberg, L. I. van den Born, 2018, Genome Research.

Intronic ABCA 4 Variant c . 4539 + 2001 G > A in Stargardt Disease

R. Collin, Lonneke Duijkers, A. Garanto, 2019 .

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

R. Collin, Lonneke Duijkers, A. Garanto, 2019, Genes.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

S. Levy, C. Dang, R. Lewis, 2010, Nature Genetics.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2013, Clinical genetics.

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

A. D. den Hollander, F. Cremers, N. Qureshi, 2010, Molecular vision.

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA

C. Cremers, H. Kremer, R. Collin, 2008, Audiology and Neurotology.

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease

A. Heerschap, J. Smeitink, J. Beyrath, 2017, Scientific Reports.

Defects in the cell signaling mediator (cid:452) -catenin cause the retinal vascular 1 condition FEVR 2

C. Inglehearn, B. Chung, J. Poulter, 2020 .

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

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

Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.

R. Collin, A. Garanto, 2018, Methods in molecular biology.

Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness

R. Collin, Lonneke Duijkers, A. Garanto, 2015, International journal of molecular sciences.

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

F. Riemslag, F. Cremers, L. I. van den Born, 2018, Genes.

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2010, American journal of human genetics.

Molecular Therapies for Inherited Retinal Diseases

R. Collin, A. Garanto, 2020 .

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

C. Klaver, B. Lorenz, C. Hoyng, 2018, Investigative ophthalmology & visual science.

The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy.

A. D. den Hollander, F. Cremers, R. Collin, 2012, Advances in experimental medicine and biology.

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

R. Roepman, T. Peters, F. Cremers, 2013, PloS one.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

J. Dopazo, F. García-García, M. Cortón, 2015, Human molecular genetics.

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4

C. Cremers, H. Brunner, H. Kremer, 2007, Journal of Molecular Medicine.

Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature

E. van Wijk, T. Peters, R. Collin, 2020, Investigative ophthalmology & visual science.

PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion

T. Gibson, R. Roepman, R. Collin, 2022, Human molecular genetics.

C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish

E. van Wijk, T. Peters, L. M. Kamminga, 2018, Scientific Reports.

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

M. H. Kuehn, R. Collin, D. Ahram, 2015, PloS one.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

B. Jurklies, E. De Baere, B. Wissinger, 2014, Molecular genetics & genomic medicine.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

C. Cremers, T. Strom, A. D. den Hollander, 2007, Human mutation.

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

E. van Wijk, T. Peters, R. Collin, 2018, PloS one.

Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)

A. J. Roman, Ian C. Han, A. Cideciyan, 2020 .

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

F. Cremers, L. I. van den Born, R. Collin, 2011, Investigative ophthalmology & visual science.

Biosynthesis and differential processing of two pools of amyloid‐β precursor protein in a physiologically inducible neuroendocrine cell

G. Martens, R. Collin, G. Martens, 2005, Journal of neurochemistry.

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly

F. Cremers, R. Collin, C. E. van Nouhuys, 2018, European Journal of Human Genetics.

Exploring the role of Alzheimer's amyloid-β precursor protein APP and its relative APLP2 in Xenopus intermediate pituitary

R. Collin, 2006 .

The amyloid-β precursor-like protein APLP2 and its relative APP are differentially regulated during neuroendocrine cell activation

R. Collin, G. Martens, 2005, Molecular and Cellular Neuroscience.

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

C. Cremers, H. Kremer, R. Collin, 2010, Audiology and Neurotology.

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.

Promises and challenges of genetic therapy for blindness

F. Cremers, R. Collin, 2009, The Lancet.

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.

F. Cremers, R. Collin, A. Garanto, 2018, Advances in experimental medicine and biology.

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

C. Cremers, G. Vriend, H. Kremer, 2008, Human mutation.

Phenotype Description of a Novel DFNA9/COCH Mutation, I109T

J. Cruysberg, H. Kremer, L. Hoefsloot, 2007, The Annals of otology, rhinology, and laryngology.

Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W

C. Cremers, H. Kremer, L. Hoefsloot, 2006, Audiology and Neurotology.

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

C. Cremers, H. Kremer, L. Hoefsloot, 2006, American Journal of Medical Genetics. Part A.

Delivery of oligonucleotide‐based therapeutics: challenges and opportunities

Annemieke Aartsma-Rus, V. Arechavala-Gomeza, A. Goyenvalle, 2021, EMBO molecular medicine.

Approaches for corneal endothelium regenerative medicine

J. Mehta, S. Ferrari, H. Skottman, 2021, Progress in Retinal and Eye Research.

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

B. Lorenz, T. Rosenberg, F. Cremers, 2015, European Journal of Human Genetics.

The Molecular Basis of Retinal Dystrophies in Pakistan

A. D. den Hollander, F. Cremers, R. Collin, 2014, Genes.

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

C. Inglehearn, B. Chung, C. Toomes, 2017, American journal of human genetics.

Next Generation Genetic Testing for Retinitis Pigmentosa

B. J. Klevering, A. Hoischen, J. Veltman, 2013 .

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

B. J. Klevering, E. Zrenner, T. de Ravel, 2012, Archives of ophthalmology.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

B. J. Klevering, J. Corbo, R. Bose, 2011, American journal of human genetics.

Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges

R. Collin, A. Garanto, Irene Vázquez-Domínguez, 2019, Genes.

A look into retinal organoids: methods, analytical techniques, and applications

R. Roepman, M. Cheetham, R. Collin, 2021, Cellular and Molecular Life Sciences.

Identification and analysis of inherited retinal disease genes.

A. D. den Hollander, F. Cremers, K. Neveling, 2013, Methods in molecular biology.

P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines

R. Collin, Arjen Henkes, J. Mol, 2019, Oncotarget.

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Nicola Meola, S. Banfi, M. Pizzo, 2013, Orphanet Journal of Rare Diseases.

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family

A. D. den Hollander, F. Cremers, N. Qureshi, 2009, Molecular vision.

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.

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

F. Cremers, C. Hoyng, R. Allikmets, 2018, American journal of human genetics.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

A. D. den Hollander, F. Cremers, C. Hoyng, 2021, Human mutation.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

Kalyan Dulla, Anthony A. Vugler, Michael E. Cheetham, 2018, Molecular therapy. Nucleic acids.

In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.

J. Bennett, Ru Xiao, L. Vandenberghe, 2016, Human molecular genetics.

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.

L. Hetterschijt, E. van Wijk, T. Peters, 2016, Molecular therapy. Nucleic acids.

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

A. D. den Hollander, F. Cremers, A. Janecke, 2012, PloS one.

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

A. D. den Hollander, F. Cremers, J. Bennett, 2012, Molecular therapy. Nucleic acids.

PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia

S. Letteboer, R. Roepman, M. Ueffing, 2023, Cells.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Marni J. Falk, J. Sahel, A. D. den Hollander, 2015, Human molecular genetics.

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families

A. D. den Hollander, F. Cremers, K. Neveling, 2012, Molecular vision.

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

E. van Wijk, T. Peters, H. Kremer, 2021, International journal of molecular sciences.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

F. Cremers, R. Allikmets, R. Collin, 2020, Progress in Retinal and Eye Research.

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies

M. Huynen, K. Stieger, R. Collin, 2015, Progress in Retinal and Eye Research.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Christian Gilissen, Alexander Hoischen, Tomoko Tahira, 2013, Proceedings of the National Academy of Sciences.

Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopy

R. Roepman, M. Ueffing, K. Boldt, 2023, bioRxiv.

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

F. Cremers, R. Collin, A. Garanto, 2021, International journal of molecular sciences.

Phenotype of RDH12-related Early-Onset Retinal Dystrophy

E. Baere, S. Walraedt, F. Coppieters, 2011 .

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

A. Hoischen, T. Strom, J. Veltman, 2010, American journal of human genetics.

An FEVR‐associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature

Evelyn N. Kouwenhoven, Huiqing Zhou, R. Collin, 2018, Human molecular genetics.

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

A. D. den Hollander, F. Cremers, R. Collin, 2014, Cold Spring Harbor perspectives in medicine.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

T. Strom, A. D. den Hollander, F. Cremers, 2011, Molecular vision.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

B. J. Klevering, J. Hehir-Kwa, T. Strom, 2011, Investigative ophthalmology & visual science.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

F. Cremers, F. Raymond, H. Venselaar, 2016, Investigative ophthalmology & visual science.

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

R. Collin, J. Rozet, X. Gérard, 2016, Advances in experimental medicine and biology.

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

F. Cremers, D. Piccolo, E. Bloch, 2020, Molecular therapy. Nucleic acids.

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

F. Cremers, D. Lugtenberg, L. I. van den Born, 2018, Genome research.

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease

F. Cremers, R. Collin, A. Garanto, 2022, Cells.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

B. J. Klevering, Silvio Alessandro Di Gioia, C. Rivolta, 2014, Ophthalmology.

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

B. J. Klevering, A. D. den Hollander, C. Hoyng, 2013, Investigative ophthalmology & visual science.

Retina Clinical Characteristics of Rod and Cone Photoreceptor Dystrophies in Patients With Mutations in the C 8 orf 37 Gene

B. J. Klevering, C. Hoyng, Y. Rotenstreich, 2013 .

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

B. J. Klevering, F. Riemslag, C. Hoyng, 2015, Acta ophthalmologica.

Exome sequencing identifies a novel and a recurrent BBS 1 mutation in Pakistani families with Bardet-Biedl syndrome

F. Cremers, C. Gilissen, K. Neveling, 2017 .

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

F. Cremers, Ahmed Sadeque, C. Gilissen, 2013, Molecular vision.

BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

B. J. Klevering, E. Zrenner, D. Sharon, 2012 .

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

D. Piccolo, A. Webster, M. Cheetham, 2023, Molecular therapy. Nucleic acids.

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.

Development and Use of Cellular Systems to Assess and Correct Splicing Defects.

R. Collin, A. Garanto, Nuria Suárez-Herrera, 2022, Methods in molecular biology.

Antisense Oligonucleotide-based Splice Correction for USH 2 A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

L. Hetterschijt, E. van Wijk, T. Peters, 2016 .

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

C. Cremers, T. Strom, H. Kremer, 2008, European Journal of Human Genetics.

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.

C. Klaver, A. D. den Hollander, F. Cremers, 2010, Investigative ophthalmology & visual science.

Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family with a Novel Mutation in ACTG1

H. Kremer, R. Collin, P. Huygen, 2009, The Annals of otology, rhinology, and laryngology.

Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family with a Novel Mutation in POU4F3

H. Kremer, R. Collin, Hannie Kremer, 2009, The Annals of otology, rhinology, and laryngology.

The coding sequence of amyloid-β precursor protein APP contains a neural-specific promoter element

R. Collin, G. Martens, 2006, Brain Research.

Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3

C. Cremers, H. Kremer, R. Collin, 2009, Audiology and Neurotology.

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa

F. Cremers, R. Collin, M. Khan, 2018, Human mutation.

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

A. D. den Hollander, F. Cremers, Ahmed Sadeque, 2009, Molecular vision.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

B. J. Klevering, S. Riazuddin, M. Cortón, 2015, British Journal of Ophthalmology.

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

B. J. Klevering, C. Klaver, L. Hoefsloot, 2015, Molecular Vision.

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

B. J. Klevering, C. Klaver, A. D. den Hollander, 2014, Investigative ophthalmology & visual science.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

I. Chowers, T. Strom, A. D. den Hollander, 2010, Investigative ophthalmology & visual science.

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

C. Klaver, T. Strom, A. D. den Hollander, 2010, American journal of human genetics.

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.

Applications of antisense oligonucleotides for the treatment of inherited retinal diseases

R. Collin, A. Garanto, 2017, Current opinion in ophthalmology.

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly

F. Cremers, R. Collin, C. E. van Nouhuys, 2018, European Journal of Human Genetics.

Prenylation defects in inherited retinal diseases

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

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

A. D. den Hollander, F. Cremers, C. Hoyng, 2012, Molecular vision.

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2013, Ophthalmology.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

B. J. Klevering, T. Strom, A. D. den Hollander, 2008, American journal of human genetics.

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

B. J. Klevering, J. Veltman, A. D. den Hollander, 2012, American journal of human genetics.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

A. D. den Hollander, F. Kersten, J. Keunen, 2011, Ophthalmology.

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

F. Cremers, N. Waheed, K. Neveling, 2014, Journal of Medical Genetics.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

R. Roepman, M. Ueffing, K. Boldt, 2023, JCI insight.

Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA4

D. Piccolo, A. Webster, M. Cheetham, 2022, bioRxiv.

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2010, Ophthalmology.

Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.

T. Strom, A. D. den Hollander, F. Cremers, 2011, Archives of ophthalmology.

Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics and Progression.

F. Cremers, C. Hoyng, R. Collin, 2023, Ophthalmology.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease

A. Heerschap, J. Smeitink, J. Beyrath, 2017, Scientific Reports.

Identification and expression of the first nonmammalian amyloid-beta precursor-like protein APLP2 in the amphibian Xenopus laevis.

J. Leunissen, R. Collin, G. Martens, 2004, European journal of biochemistry.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family

A. D. den Hollander, F. Cremers, N. Qureshi, 2009, Molecular vision.

Table. Linkage and Mutation Analysis Results of Known Retinal Dystrophy Genes in Pakistani Families

T. Strom, F. Cremers, Ahmed Sadeque, 2017 .

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

F. Cremers, Ahmed Sadeque, C. Gilissen, 2013, Molecular vision.

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

F. Cremers, R. Collin, J. Swildens, 2023, Human molecular genetics.