PubRank

Frans P M Cremers

Author PubWeight™ 167.09‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008 5.90
2 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006 4.77
3 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 2007 3.22
4 CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 2005 2.37
5 Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 2012 2.30
6 Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 2010 2.26
7 Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci 2012 2.26
8 Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci 2005 2.20
9 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007 2.16
10 Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest 2010 2.13
11 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol 2004 2.12
12 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013 2.07
13 L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet 2007 2.04
14 Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat 2008 2.03
15 Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci 2010 1.98
16 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
17 AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet 2010 1.89
18 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 2004 1.88
19 Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet 2004 1.84
20 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet 2008 1.84
21 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009 1.83
22 CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat 2004 1.75
23 Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet 2009 1.72
24 Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 2009 1.65
25 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis 2010 1.64
26 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006 1.63
27 Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci 2010 1.61
28 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clin Experiment Ophthalmol 2007 1.58
29 Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci 2005 1.57
30 Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc Natl Acad Sci U S A 2005 1.55
31 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci 2007 1.54
32 IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci 2011 1.43
33 Composition and function of the Crumbs protein complex in the mammalian retina. Exp Eye Res 2008 1.42
34 Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology 2010 1.40
35 The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res 2008 1.37
36 A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet 2012 1.36
37 Towards understanding CRUMBS function in retinal dystrophies. Hum Mol Genet 2006 1.34
38 Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012 1.34
39 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat 2010 1.31
40 Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest 2011 1.31
41 A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. Invest Ophthalmol Vis Sci 2004 1.30
42 Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010 1.29
43 Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet 2008 1.27
44 Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet 2008 1.24
45 Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology 2012 1.22
46 Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain. Mech Dev 2002 1.20
47 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2009 1.20
48 Non-syndromic retinal ciliopathies: translating gene discovery into therapy. Hum Mol Genet 2012 1.19
49 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010 1.19
50 High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci 2011 1.18
51 Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. Arch Ophthalmol 2007 1.17
52 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
53 Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet 2011 1.16
54 Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci 2010 1.15
55 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology 2010 1.14
56 A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci 2008 1.14
57 USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat 2004 1.13
58 The spectrum of phenotypes caused by variants in the CFH gene. Mol Immunol 2009 1.13
59 Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci 2006 1.12
60 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
61 A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol 2003 1.12
62 Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat 2008 1.11
63 Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet 2010 1.11
64 Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci 2009 1.10
65 Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Mol Vis 2005 1.10
66 MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. Invest Ophthalmol Vis Sci 2005 1.09
67 ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A 2013 1.08
68 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet 2004 1.07
69 Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet 2003 1.07
70 Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology 2006 1.07
71 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol 2012 1.06
72 Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat 2011 1.06
73 Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene. Invest Ophthalmol Vis Sci 2002 1.06
74 Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 2008 1.05
75 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet 2002 1.05
76 A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. Invest Ophthalmol Vis Sci 2010 1.05
77 Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. Ophthalmology 2004 1.04
78 Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 2007 1.03
79 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet 2013 1.03
80 FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex. Exp Cell Res 2007 1.02
81 Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol 2007 1.01
82 Central areolar choroidal dystrophy. Ophthalmology 2009 1.00
83 CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology 2011 0.98
84 Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 2006 0.97
85 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
86 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
87 Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. Dev Biol 2004 0.96
88 Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet 2013 0.96
89 Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. Mol Vis 2012 0.95
90 MPP1 links the Usher protein network and the Crumbs protein complex in the retina. Hum Mol Genet 2007 0.95
91 Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol Neurotol 2005 0.94
92 Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 2013 0.92
93 Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Mol Vis 2013 0.92
94 CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. Hum Genet 2010 0.92
95 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Arch Ophthalmol 2007 0.92
96 Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina 2009 0.91
97 The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 2002 0.91
98 Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One 2013 0.91
99 Late onset retinitis pigmentosa. Ophthalmology 2011 0.90
100 The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. Invest Ophthalmol Vis Sci 2004 0.89
101 CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006 0.89
102 A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. Mol Vis 2009 0.87
103 A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis 2009 0.87
104 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol Vis 2011 0.86
105 Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Hum Mutat 2015 0.86
106 Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa. Mol Vis 2010 0.86
107 Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology 2013 0.86
108 A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. Ophthalmology 2012 0.86
109 Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One 2013 0.85
110 Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. Mol Vis 2007 0.85
111 Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. PLoS One 2012 0.84
112 Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. Mol Vis 2012 0.84
113 A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. Mol Vis 2012 0.83
114 Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. Mol Vis 2012 0.83
115 The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy. Adv Exp Med Biol 2012 0.83
116 Mutation- and tissue-specific alterations of RPGR transcripts. Invest Ophthalmol Vis Sci 2009 0.83
117 Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Invest Ophthalmol Vis Sci 2003 0.83
118 Identification and analysis of inherited retinal disease genes. Methods Mol Biol 2013 0.82
119 Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome. Graefes Arch Clin Exp Ophthalmol 2004 0.81
120 Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. Mol Vis 2003 0.81
121 Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis 2010 0.81
122 Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands. Mol Vis 2007 0.80
123 A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. Arch Otolaryngol Head Neck Surg 2004 0.80
124 Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. Mol Vis 2012 0.80
125 Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest Ophthalmol Vis Sci 2011 0.80
126 Focus on molecules: RPGRIP1. Exp Eye Res 2008 0.79
127 Prenylation defects in inherited retinal diseases. J Med Genet 2014 0.78
128 A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene. Arch Ophthalmol 2003 0.78
129 Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Arch Ophthalmol 2011 0.78
130 Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. BMC Ophthalmol 2014 0.78
131 Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases. Hum Mutat 2014 0.76
132 Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene. J Mol Diagn 2009 0.76
133 A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. Mol Vis 2012 0.75
134 Central areolar choroidal dystrophy associated with dominantly inherited drusen. Br J Ophthalmol 2002 0.75
135 Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. Clin Dysmorphol 2015 0.75
136 CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med 2017 0.75
137 Leber congenital amaurosis: ciliary proteins on the move. Ophthalmic Genet 2007 0.75
138 Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma. Hum Genet 2007 0.75
139 Positional cloning of deafness genes. Methods Mol Biol 2009 0.75
140 Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. Am J Med Genet A 2005 0.75