R. Roepman

发表

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.

Silvio Alessandro Di Gioia, S. Letteboer, C. Kostic, 2012, Human molecular genetics.

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

Silvio Alessandro Di Gioia, S. Letteboer, D. Sharon, 2015, Human molecular genetics.

Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.

R. Roepman, U. Wolfrum, F. Kersten, 2010, Investigative ophthalmology & visual science.

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

R. Roepman, R. Kirschner, T. Rosenberg, 1999, Human molecular genetics.

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

C. Cremers, R. Roepman, U. Wolfrum, 2006, Human molecular genetics.

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

R. Roepman, U. Wolfrum, F. Kersten, 2008, Human molecular genetics.

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

R. Roepman, U. Wolfrum, E. van Wijk, 2005, Human molecular genetics.

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

R. Roepman, U. Wolfrum, E. van Wijk, 2006, Human molecular genetics.

Subunits of Mitochondrial Complex I Exist as Part of Matrix- and Membrane-associated Subcomplexes in Living Cells*

Rutger O. Vogel, R. Roepman, J. Fransen, 2008, Journal of Biological Chemistry.

CiliaCarta: An integrated and validated compendium of ciliary genes

Colin A. Johnson, T. Gibson, M. Huynen, 2019, PloS one.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

R. Pfundt, M. Reijnders, B. D. de Vries, 2017, American journal of human genetics.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Leber congenital amaurosis: Genes, proteins and disease mechanisms

R. Roepman, F. Cremers, A. I. Hollander, 2008, Progress in Retinal and Eye Research.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2010, American journal of human genetics.

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

T. Stokke, E. Molinari, S. Letteboer, 2019, Cell reports.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

H. Omran, S. Letteboer, R. Roepman, 2013, Nature Genetics.

The Cyclophilin-like Domain Mediates the Association of Ran-Binding Protein 2 with Subunits of the 19 S Regulatory Complex of the Proteasome*

R. Roepman, P. Ferreira, C. Yunfei, 1998, The Journal of Biological Chemistry.

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

A. Rosenthal, M. Platzer, R. Roepman, 1996, Human molecular genetics.

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.

Non-syndromic retinitis pigmentosa

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

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American journal of human genetics.

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia.

R. Roepman, M. Schmidts, F. Russel, 2019, Biochimica et biophysica acta. General subjects.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, N. de Leeuw, E. Bongers, 2011, Journal of Medical Genetics.

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

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

Fluid shear stress increases transepithelial transport of Ca2+ in ciliated distal convoluted and connecting tubule cells

R. Roepman, J. Hoenderop, R. Bindels, 2017, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

A. Hoischen, R. Pfundt, J. Hehir-Kwa, 2016, European Journal of Human Genetics.

Polycystic liver disease: ductal plate malformation and the primary cilium.

R. Roepman, J. Drenth, E. Wills, 2014, Trends in molecular medicine.

Regulation of E2F1 by the von Hippel–Lindau tumour suppressor protein predicts survival in renal cell cancer patients

P. V. van Diest, R. Roepman, J. van Reeuwijk, 2013, The Journal of pathology.

University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

R. Pfundt, M. Reijnders, J. Gécz, 2018 .

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

CiliaCarta: An integrated and validated compendium of ciliary genes

Colin A. Johnson, Robin van der Lee, T. Gibson, 2017, bioRxiv.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

L. Hetterschijt, R. Roepman, N. Sorusch, 2015, Genome Biology.

MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.

E. Krieger, A. D. den Hollander, S. Letteboer, 2005, Investigative ophthalmology & visual science.

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

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

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

R. Roepman, M. Ueffing, B. Durand, 2015, Cilia.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Richard D Emes, A. Hoischen, P. Scambler, 2013, Journal of Medical Genetics.

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

H. Mussaffi, H. Omran, S. Letteboer, 2020, Nature Communications.

C 14 ORF 179 encoding IFT 43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, E. Bongers, H. Brunner, 2019 .

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

R. Roepman, A. Ekici, E. Seemanová, 2015, Scientific Reports.

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.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

Explorer An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Teunis J. P. van Dam, T. Gibson, M. Huynen, 2016 .

Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene

S. Fauser, R. Roepman, P. Ferreira, 2001, Mammalian Genome.

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

R. Roepman, P. Beales, R. Giles, 2018, Front. Pediatr..

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.

Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling

R. Roepman, M. Ueffing, J. van Reeuwijk, 2017, Human molecular genetics.

Supplementary information Ptchd 1 deficiency induces exciatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017 .

Human CRB2 Inhibits γ-Secretase Cleavage of Amyloid Precursor Protein by Binding to the Presenilin Complex*

R. Roepman, M. Takeda, Toshiharu Suzuki, 2010, The Journal of Biological Chemistry.

A defective structural zipper in photoreceptors causes inherited blindness

R. Roepman, Siebren Faber, 2022, PLoS biology.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Colin A. Johnson, P. Scambler, R. Roepman, 2017, Human molecular genetics.

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Caitlin V. Miller, D. Nickerson, M. Bamshad, 2020, The Journal of clinical investigation.

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

E. Bongers, S. Letteboer, R. Roepman, 2018, Cilia.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

J. Cruysberg, T. de Ravel, A. D. den Hollander, 2006, Investigative ophthalmology & visual science.

FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.

A. D. den Hollander, S. Letteboer, R. Roepman, 2007, Experimental cell research.

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

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

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.

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

S. Letteboer, L. Hetterschijt, R. Roepman, 2017, Journal of Medical Genetics.

Composition and function of the Crumbs protein complex in the mammalian retina.

A. D. den Hollander, R. Roepman, F. Cremers, 2008, Experimental eye research.

Towards understanding CRUMBS function in retinal dystrophies.

A. D. den Hollander, R. Roepman, J. Wijnholds, 2006, Human molecular genetics.

CRB1 mutation spectrum in inherited retinal dystrophies

Jason J. Davis, A. D. den Hollander, R. Roepman, 2004, Human mutation.

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.

In vivo phage display screening for tumor vascular targets in glioblastoma identifies a llama nanobody against dynactin-1-p150Glued

S. Letteboer, R. Roepman, E. van Wijk, 2016, Oncotarget.

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

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

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Bethan E. Hoskins, R. Roepman, E. van Wijk, 2016, Scientific Reports.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

C. Cremers, S. Letteboer, R. Roepman, 2009, Human molecular genetics.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

A. Hoischen, R. Pfundt, J. Veltman, 2011, American journal of human genetics.

A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes

R. Roepman, M. Ueffing, K. Boldt, 2007, Proteomics.

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

A. D. den Hollander, R. Roepman, P. Rashbass, 2005, Molecular vision.

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.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis

R. Roepman, M. Ueffing, E. Becirovic, 2018, Journal of Cell Science.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

R. Pfundt, R. Roepman, V. Haucke, 2018, bioRxiv.

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.

T. Aleman, G. Ying, A. D. den Hollander, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.

Early presentation of cystic kidneys in a family with a homozygous INVS mutation

B. V. van Bon, A. Hoischen, N. de Leeuw, 2014, American journal of medical genetics. Part A.

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017, Molecular Psychiatry.

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Silvio Alessandro Di Gioia, Y. Arsenijévic, R. Roepman, 2016, American journal of human genetics.

The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically

L. Hetterschijt, R. Roepman, U. Wolfrum, 2012, Cilia.

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

R. Reinhardt, A. Beck, R. Roepman, 1996, Human molecular genetics.

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

A. D. den Hollander, R. Roepman, F. Cremers, 2012, Human molecular genetics.

A non‐ancestral RPGR missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa

D. Sharon, R. Roepman, T. Rosenberg, 2007, American journal of medical genetics. Part A.

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

L. Vissers, E. Bongers, R. Roepman, 2021, European Journal of Human Genetics.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

G. Mardon, J. Qin, R. Roepman, 2018, The Journal of cell biology.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

G. Mardon, S. Wu, S. Letteboer, 2015, Human molecular genetics.

Spata 7 is a retinal ciliopathy gene critical for correct RPGRIP 1 localization and protein traf fi cking in the retina

G. Mardon, S. Wu, S. Letteboer, 2015 .

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

J. Veltman, S. Letteboer, R. Roepman, 2009, American journal of human genetics.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

I. Glass, H. Brunner, S. Letteboer, 2007, Nature Genetics.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

D. Nickerson, M. Bamshad, R. Roepman, 2017, American journal of human genetics.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American Journal of Human Genetics.

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

H. Omran, S. Letteboer, R. Roepman, 2018, PLoS genetics.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

I. V. van Rooij, E. Bongers, R. Roepman, 2018, Pediatric Nephrology.

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

E. van Binsbergen, R. Roepman, I. Nijman, 2016, American journal of medical genetics. Part A.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

R. Roepman, N. Sebire, M. Ueffing, 2013, Nature Genetics.

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

S. Cevik, S. Letteboer, L. Hetterschijt, 2013, PLoS genetics.

Novel GANAB variants associated with polycystic liver disease

A. Hoischen, R. Roepman, H. Venselaar, 2020, Orphanet Journal of Rare Diseases.

Proceedings of the Second International Cilia in Development and Disease Scientific Conference

R. Roepman, N. Sorusch, U. Wolfrum, 2015 .

OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin

J. Veltman, S. Letteboer, R. Roepman, 2009 .

Artificial intelligence: A powerful paradigm for scientific research

Jialiang Yang, S. Dietmann, J. Tiedje, 2021, Innovation.

Versatile screening for binary protein-protein interactions by yeast two-hybrid mating.

S. Letteboer, R. Roepman, 2008, Methods in molecular biology.

ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability

Caitlin V. Miller, D. Nickerson, M. Bamshad, 2019, bioRxiv.

The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function

R. Roepman, M. Ueffing, A. Wittinghofer, 2015, Structure.

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

E. Krieger, S. Letteboer, R. Roepman, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Scrutinizing ciliopathies by unraveling ciliary interaction networks.

R. Roepman, J. van Reeuwijk, H. Arts, 2011, Human molecular genetics.

The Zinc Finger Cluster Domain of RanBP2 Is a Specific Docking Site for the Nuclear Export Factor, Exportin-1*

R. Roepman, Brij B. Singh, P. Ferreira, 1999, The Journal of Biological Chemistry.

University of Dundee DNAAF 1 links heart laterality with the AAA + ATPase RUVBL 1 and ciliary intraflagellar transport

Colin A. Johnson, P. Scambler, R. Roepman, 2017 .

The DFNB 31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH 2 A and VLGR 1

C. Cremers, R. Roepman, U. Wolfrum, 2006 .

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

R. Roepman, M. Ueffing, J. van Reeuwijk, 2011, Cilia.

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

R. Roepman, F. Cremers, H. Ropers, 2000, Human molecular genetics.

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

R. Roepman, U. Wolfrum, Tina Märker, 2014, Human molecular genetics.

ANKS 6 is a central component of a nephronophthisis module linking NEK 8 to INVS and NPHP 3

Sophie, R. Roepman, N. Sebire, 2013 .

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

A. D. den Hollander, S. Letteboer, R. Roepman, 2015, Nature Genetics.

Moonlighting of mitotic regulators in cilium disassembly

R. Roepman, Cenna Doornbos, C. Doornbos, 2021, Cellular and Molecular Life Sciences.

A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome

R. Roepman, M. Ueffing, K. Boldt, 2023, Frontiers in Cell and Developmental Biology.

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.

Tandem affinity purification of ciliopathy-associated protein complexes.

Marius Ueffing, Karsten Boldt, R. Roepman, 2009, Methods in cell biology.

MPP1 links the Usher protein network and the Crumbs protein complex in the retina.

E. Krieger, S. Letteboer, R. Roepman, 2007, Human molecular genetics.

MPP 5 Recruits MPP 4 to the CRB 1 Complex in Photoreceptors

E. Krieger, S. Letteboer, R. Roepman, 2005 .

Primary cilia sense glutamine availability and respond via asparagine synthetase

R. Roepman, C. Podrini, A. Boletta, 2023, Nature Metabolism.

Identification of C12orf4 as a gene for autosomal recessive intellectual disability

T Varilo, R. Roepman, C. Gilissen, 2017, Clinical genetics.

Focus on molecules: RPGRIP1.

R. Roepman, F. Cremers, N. Knoers, 2009, Experimental eye research.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

L. Hetterschijt, R. Roepman, M. Ueffing, 2015, PLoS genetics.

Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease

R. Roepman, Siebren Faber, 2019, Genes.

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function.

R. V. Wezel, S. Letteboer, R. Roepman, 2016, Cell reports.

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.

Protein networks and complexes in photoreceptor cilia.

R. Roepman, U. Wolfrum, 2007, Sub-cellular biochemistry.

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

R. Roepman, N. Sorusch, U. Wolfrum, 2015, Cilia.

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

T. Gibson, L. Hetterschijt, R. Roepman, 2015, PLoS genetics.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

S. Letteboer, R. Roepman, C. Mardin, 2011, European Journal of Human Genetics.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry*

T. Gibson, R. Roepman, M. Ueffing, 2014, Molecular & Cellular Proteomics.

Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast.

R. Roepman, P. Ferreira, D. Schick, 2000, Methods in enzymology.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

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.

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal Recessive Cone-Rod Dystrophy and Retinitis Pigmentosa with Early Macular Involvement

B. J. Klevering, D. Sharon, R. Roepman, 2012 .

Whirlin associates with the Ca v 1.3 ( 1D ) channels in photoreceptors, defining a novel member of the Usher protein network

R. Roepman, U. Wolfrum, Tina Märker, 2009 .

Molecular insights into PCARE-associated retinal disease

R. Roepman, A. D. Hollander, A. Garanto, 2018 .

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport dystrophy with impaired retrograde intraflagellar transport

Colin A. Johnson, P. Scambler, S. Letteboer, 2021 .

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

S. Nelson, B. Venkatesh, R. Hegele, 2016, Cilia.