Citation Impact
Citing Papers
2017 Standout
Developmental refinement of hair cell synapses tightens the coupling of Ca 2 + influx to exocytosis
2014 StandoutNobel
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
2012
Improved bi-allelic modification of a transcriptionally silent locus in patient-derived iPSC by Cas9 nickase
2016 StandoutNobel
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
2011
Engineering precision nanoparticles for drug delivery
2020 Standout
A guide to genome engineering with programmable nucleases
2014 Standout
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
2011
Biological functions of fucose in mammals
2017
Myopia
2012 Standout
The Blood–Brain Barrier
2015 Standout
Differentiation of the brain vasculature: the answer came blowing by the Wnt
2010
Lipid nanoparticles for mRNA delivery
2021 Standout
Gabapentin Receptor α2δ-1 Is a Neuronal Thrombospondin Receptor Responsible for Excitatory CNS Synaptogenesis
2009
Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
2010
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
Norrin/Frizzled4 Signaling in Retinal Vascular Development and Blood Brain Barrier Plasticity
2012
Non-viral delivery of chemically modified mRNA to the retina: Subretinal versus intravitreal administration
2019
Targeting RNA splicing for disease therapy
2013
Macrophages in immunoregulation and therapeutics
2023 Standout
The genetic landscape of the epileptic encephalopathies of infancy and childhood
2015
Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells
2011 Nature
Retinitis Pigmentosa: Genes and Disease Mechanisms
2011 Standout
The Thrombospondins
2011 Standout
The Science of Stroke: Mechanisms in Search of Treatments
2010 Standout
ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering
2013 Standout
Extracellular matrix of the central nervous system: from neglect to challenge
2008
Seamless genome editing in human pluripotent stem cells using custom endonuclease–based gene targeting and the piggyBac transposon
2013
An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex
2014 Standout
Slc6a8-Mediated Creatine Uptake and Accumulation Reprogram Macrophage Polarization via Regulating Cytokine Responses
2019
The SLC16 gene family – Structure, role and regulation in health and disease
2013
Molecular basis of ancestral vertebrate electroreception
2017 StandoutNatureNobel
Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome
2015
Extracellular Matrix Degradation and Remodeling in Development and Disease
2011 Standout
Metazoan MicroRNAs
2018 Standout
Next generation tools for the annotation of human SNPs
2009
Extracellular matrix structure
2015 Standout
The Molecular Architecture of Ribbon Presynaptic Terminals
2009
Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients
2018
Wnt/β-Catenin Signaling and Disease
2012 Standout
Development, maintenance and disruption of the blood-brain barrier
2013 Standout
The Ca2+Channel Subunit β2 Regulates Ca2+Channel Abundance and Function in Inner Hair Cells and Is Required for Hearing
2009
Leber congenital amaurosis: Genes, proteins and disease mechanisms
2008 Standout
Genomic Analysis of Reactive Astrogliosis
2012 Standout
Cystic fibrosis genetics: from molecular understanding to clinical application
2014 Standout
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
A biodegradable nanocapsule delivers a Cas9 ribonucleoprotein complex for in vivo genome editing
2019
Macrophages as regulators of tumour immunity and immunotherapy
2019 Standout
Reactive Astrocytes: Production, Function, and Therapeutic Potential
2017 Standout
Norrin, Frizzled-4, and Lrp5 Signaling in Endothelial Cells Controls a Genetic Program for Retinal Vascularization
2009
Meet the Tenascins: Multifunctional and Mysterious
2005
Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases
2018
Probing the Functional Equivalence of Otoferlin and Synaptotagmin 1 in Exocytosis
2011 StandoutNobel
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
2010 Standout
Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations
2011
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
LRG1 promotes angiogenesis by modulating endothelial TGF-β signalling
2013 StandoutNature
Accommodative Lag before and after the Onset of Myopia
2006
Inactivation of the microRNA-183/96/182cluster results in syndromic retinal degeneration
2013
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach
2019
Modeling host interactions with hepatitis B virus using primary and induced pluripotent stem cell-derived hepatocellular systems
2014 StandoutNobel
Monocarboxylate Transporters: Therapeutic Targets and Prognostic Factors in Disease
2016
Mutations in the X-Linked Retinitis Pigmentosa GenesRPGRandRP2Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa
2013
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Scalable mRNA and siRNA Lipid Nanoparticle Production Using a Parallelized Microfluidic Device
2021 StandoutNobel
Inhibition of the oxygen sensor PHD2 in the liver improves survival in lactic acidosis by activating the Cori cycle
2015 StandoutNobel
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of John Neidhardt being referenced
Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy
2006
Identification and characterization of a novel RPGR isoform in human retina
2007
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation
2011
Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled‐4
2008
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA
2008
Tenascin-N: characterization of a novel member of the tenascin family that mediates neurite repulsion from hippocampal explants
2003
Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria
2008
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter
2013
Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells
2011
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
2013
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
2012
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking
2007
A Gene Therapeutic Approach to Correct Splice Defects with Modified U1 and U6 snRNPs
2012
Mutation- and Tissue-Specific Alterations ofRPGRTranscripts
2010
Structural and Functional Abnormalities of Retinal Ribbon Synapses due toCacna2d4Mutation
2006
Short DNA sequences inserted for gene targeting can accidentally interfere with off‐target gene expression
2010
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
2013
A Novel Method Combining Vitreous Aspiration and Intravitreal AAV2/8 Injection Results in Retina-Wide Transduction in Adult Mice
2016
Cone versus Rod Disease in a MutantRpgrMouse Caused by Different Genetic Backgrounds
2010
Mutations inGRM6Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram
2005