Citation Impact
Citing Papers
Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes
2017
The Proteome of the Mouse Photoreceptor Sensory Cilium Complex
2007
Bone Morphogenetic Protein (BMP) signaling in development and human diseases
2014 Standout
Optical coherence tomography angiography
2017 Standout
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
2011
Towards understanding CRUMBS function in retinal dystrophies
2006
CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease
2008
Centrosomal-ciliary geneCEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis
2007
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
2012
Perspective on Genes and Mutations Causing Retinitis Pigmentosa
2007
Nephronophthisis
2009
Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa
2010
STED Microscopy with Optimized Labeling Density Reveals 9-Fold Arrangement of a Centriole Protein
2012 StandoutNobel
Pseudodrusen and Incidence of Late Age-Related Macular Degeneration in Fellow Eyes in the Comparison of Age-Related Macular Degeneration Treatments Trials
2016
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
2008
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
Retinitis Pigmentosa: Genes and Disease Mechanisms
2011 Standout
Cellular signaling and factors involved in Müller cell gliosis: Neuroprotective and detrimental effects
2009 Standout
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
2007
CRISPR-Mediated Ophthalmic Genome Surgery
2017
The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
2009
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
2007
STED super-resolution microscopy in Drosophila tissue and in mammalian cells
2011 StandoutNobel
Nephronophthisis-Associated Ciliopathies
2007
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations
2007
Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases
2009 Standout
Retinitis pigmentosa
2006 Standout
A Novel Mutation and Phenotypes in Phosphodiesterase 6 Deficiency
2008
Leber Congenital Amaurosis Caused by an RPGRIP1 Mutation Shows Treatment Potential
2007
Leber congenital amaurosis: Genes, proteins and disease mechanisms
2008 Standout
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Age-related macular degeneration
2018 Standout
Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration
2006
Investigating the choriocapillaris and choroidal vasculature with new optical coherence tomography technologies
2015
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10
2017
Crb1 is a determinant of retinal apical Müller glia cell features
2007
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
2008
A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
2010
Diversifying the structure of zinc finger nucleases for high-precision genome editing
2019
Soft lithography for micro- and nanoscale patterning
2010 Standout
Mutation in CEP290 Discovered for Cat Model of Human Retinal Degeneration
2007
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
2013
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
2009
Retinol Dehydrogenase (RDH12) Protects Photoreceptors from Light-induced Degeneration in Mice
2006
Trafficking in and to the primary cilium
2012
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
2013
Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture
2007
Photoreceptor IFT Complexes Containing Chaperones, Guanylyl Cyclase 1 and Rhodopsin
2009
Retinitis pigmentosa
2006
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
2008
Retinal angiomatous proliferation
2017
The primary cilium: a signalling centre during vertebrate development
2010 Standout
Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations
2011
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
2007
Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis
2017
Sequencing Arrays for Screening Multiple Genes Associated with Early-Onset Human Retinal Degenerations on a High-Throughput Platform
2005
Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients
2007
Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray
2007
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
2007
Array-Based DNA Diagnostics: Let the Revolution Begin
2007
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
2007
An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy
2007
Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
2008
Cep164, a novel centriole appendage protein required for primary cilium formation
2007
STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets
2018 Standout
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function
2014 StandoutNobel
Genes and mutations causing retinitis pigmentosa
2013 Standout
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
2007
Works of Suzanne Yzer being referenced
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa
2004
Phase-Resolved Doppler Optical Coherence Tomographic Features in Retinal Angiomatous Proliferation
2015
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
2006
CRB1Heterozygotes with Regional Retinal Dysfunction: Implications for Genetic Testing of Leber Congenital Amaurosis
2006
Reticular Pseudodrusen in Early Age-Related Macular Degeneration Are Associated With Choroidal Thinning
2013
Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis
2006
Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays
2007