Citation Impact
Citing Papers
Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes
2017
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
2012
The Proteome of the Mouse Photoreceptor Sensory Cilium Complex
2007
Bone Morphogenetic Protein (BMP) signaling in development and human diseases
2014 Standout
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
2011
Human genetic disorders of sphingolipid biosynthesis
2014
Insulin Activation of Rheb, a Mediator of mTOR/S6K/4E-BP Signaling, Is Inhibited by TSC1 and 2
2003 Standout
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
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
2011
Discovery of a Neuroprotective Chemical, (S)-N-(3-(3,6-Dibromo-9H-carbazol-9-yl)-2-fluoropropyl)-6-methoxypyridin-2-amine [(−)-P7C3-S243], with Improved Druglike Properties
2014
Ultrastructure of cilia and flagella - back to the future!
2011
Genetik des Usher-Syndroms
2009
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
2008
Non-coding RNAs as drug targets
2016
Sphingolipids and their metabolism in physiology and disease
2017 Standout
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
Nanofabrication: Reversible Self‐Assembly of an Imbedded Hexameric Metallomacrocycle within a Macromolecular Superstructure
2005
Retinitis Pigmentosa: Genes and Disease Mechanisms
2011 Standout
Cellular signaling and factors involved in Müller cell gliosis: Neuroprotective and detrimental effects
2009 Standout
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis
2003
Biomedical applications of biodegradable polymers
2011 Standout
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
A Novel Mutation and Phenotypes in Phosphodiesterase 6 Deficiency
2008
Update on Usher syndrome
2009
Leber Congenital Amaurosis Caused by an RPGRIP1 Mutation Shows Treatment Potential
2007
Leber congenital amaurosis: Genes, proteins and disease mechanisms
2008 Standout
Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration
2006
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
Synthesis of a novel structural triblock copolymer of poly(γ -benzyl-l-glutamic acid)-b-poly(ethylene oxide)-b-poly(ε-caprolactone)
2003
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
Mutation in CEP290 Discovered for Cat Model of Human Retinal Degeneration
2007
Refining the Global Spatial Limits of Dengue Virus Transmission by Evidence-Based Consensus
2012 Standout
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
Trafficking in and to the primary cilium
2012
Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture
2007
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
2008
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
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
2008
Monofluorination of Organic Compounds: 10 Years of Innovation
2015 Standout
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
Long Noncoding RNA and Cancer: A New Paradigm
2017 Standout
Stereocontrol in the synthesis of acyclic systems: applications to natural product synthesis
1980 Standout
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
Molecular Epidemiology of Autochthonous Dengue Virus Strains Circulating in Mexico
2011
An Update on the Genetics of Usher Syndrome
2010
Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
2008
Genomic Rearrangements of thePRPF31Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa
2006
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
A phen–terpy conjugate whose chelate coordination axes are orthogonal to one another and its zinc complex
2005 StandoutNobel
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function
2014 StandoutNobel
Nanofabrication: Reversible Self‐Assembly of an Imbedded Hexameric Metallomacrocycle within a Macromolecular Superstructure
2005
A molecular meccano kit †
2000 StandoutNobel
Vinylamines—XV
1974
Dendrimer construction and macromolecular property modification via combinatorial methods
1999
Iron Binding Dendrimers: A Novel Approach for the Treatment of Haemochromatosis
2006
Dendrimers Designed for Functions: From Physical, Photophysical, and Supramolecular Properties to Applications in Sensing, Catalysis, Molecular Electronics, Photonics, and Nanomedicine
2010 Standout
A highly rigid ditopic conjugate with orthogonal coordination axes and its zinc(ii) and copper(ii) complexes
2008 StandoutNobel
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis
2003
Genes and mutations causing retinitis pigmentosa
2013 Standout
4,4″‐Disubstituted Terpyridines and Their Homoleptic FeII Complexes
2013 StandoutNobel
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 Irma López being referenced
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
2010
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
2008
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1Cgene provides the first genetic link with the Acadian population
2007
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
2007
Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
2009
Evolution of dengue virus in Mexico is characterized by frequent lineage replacement
2010
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
2006
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
2013
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
2005
Optimism and Psychosocial Functioning in Caring for Children with Battens and other Neurological Diseases
2002
Notes- Simple Preparation of a Very Active Raney Nickel Catalyst.
1961
CRB1Heterozygotes with Regional Retinal Dysfunction: Implications for Genetic Testing of Leber Congenital Amaurosis
2006
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
2007
Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations
2010
Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays
2007