PubRank

Ronald Roepman

Author PubWeight™ 73.74‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008 5.90
2 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010 3.99
3 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010 3.47
4 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 2007 3.22
5 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 2008 2.68
6 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 2.54
7 Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 2006 2.30
8 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007 2.16
9 A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet 2007 2.11
10 Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 2011 1.98
11 The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet 2006 1.94
12 A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes. Proteomics 2007 1.91
13 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009 1.83
14 CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat 2004 1.75
15 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006 1.63
16 C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet 2011 1.58
17 Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet 2005 1.54
18 DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013 1.44
19 Composition and function of the Crumbs protein complex in the mammalian retina. Exp Eye Res 2008 1.42
20 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet 2013 1.39
21 Towards understanding CRUMBS function in retinal dystrophies. Hum Mol Genet 2006 1.34
22 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet 2013 1.32
23 Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest 2011 1.31
24 Scrutinizing ciliopathies by unraveling ciliary interaction networks. Hum Mol Genet 2011 1.23
25 Non-syndromic retinal ciliopathies: translating gene discovery into therapy. Hum Mol Genet 2012 1.19
26 Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. Mol Vis 2005 1.16
27 FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Hum Mol Genet 2012 1.15
28 Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet 2011 1.12
29 Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. J Biol Chem 2008 1.09
30 MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. Invest Ophthalmol Vis Sci 2005 1.09
31 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet 2013 1.03
32 FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex. Exp Cell Res 2007 1.02
33 Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network. Invest Ophthalmol Vis Sci 2009 1.01
34 Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet 2013 1.00
35 The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Hum Mol Genet 2011 0.97
36 Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. Hum Mol Genet 2008 0.97
37 MPP1 links the Usher protein network and the Crumbs protein complex in the retina. Hum Mol Genet 2007 0.95
38 A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A 2007 0.92
39 Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One 2013 0.91
40 Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex. J Biol Chem 2010 0.87
41 Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry. Mol Cell Proteomics 2014 0.82
42 Tandem affinity purification of ciliopathy-associated protein complexes. Methods Cell Biol 2009 0.82
43 Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet 2011 0.81
44 Versatile screening for binary protein-protein interactions by yeast two-hybrid mating. Methods Mol Biol 2008 0.80
45 Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients. J Pathol 2013 0.79
46 The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically. Cilia 2012 0.79
47 Focus on molecules: RPGRIP1. Exp Eye Res 2008 0.79
48 Early presentation of cystic kidneys in a family with a homozygous INVS mutation. Am J Med Genet A 2014 0.76
49 Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun 2016 0.75