Citation Impact
Citing Papers
Clinical Practice Guidelines for the Management of Cryptococcal Disease: 2010 Update by the Infectious Diseases Society of America
2010 Standout
A missense mutation in GUCY2D acts as a genetic modifier in RPE65 -related Leber Congenital Amaurosis
2004
Extracellular Matrix Reorganization During Wound Healing and Its Impact on Abnormal Scarring
2013 Standout
Chronic Glutathione Depletion Confers Protection against Alcohol-induced Steatosis: Implication for Redox Activation of AMP-activated Protein Kinase Pathway
2016
Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice
2005
Evolving Concepts in G Protein-Coupled Receptor Endocytosis: The Role in Receptor Desensitization and Signaling
2001 Standout
Use of simulation-based learning in undergraduate nurse education: An umbrella systematic review
2016 Standout
Family and genetic studies of indices of insulin sensitivity and insulin secretion in Pima Indians†‡
2001
The anti-invasive activity of synthetic alkaloid ethoxyfagaronine on L1210 leukemia cells is mediated by down-regulation of plasminogen activators and MT1-MMP expression and activity
2010 StandoutNobel
The Retinal Pigment Epithelium in Visual Function
2005 Standout
Ultraviolet Radiation: Cellular Antioxidant Response and the Role of Ocular Aldehyde Dehydrogenase Enzymes
2011
Classical and new roles of β-arrestins in the regulation of G-PROTEIN-COUPLED receptors
2001 StandoutNobel
Identification of genes causing photoreceptor degenerations leading to blindness
1997
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis
2003
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
2002
Neurobiology of Periventricular Leukomalacia in the Premature Infant
2001 Standout
Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis
2004
Simulation in the Internet age: The place of Web-based simulation in nursing education. An integrative review
2014
Leber Congenital Amaurosis
1999
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene
2001
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36
2003
Hypervirulent (hypermucoviscous)Klebsiella pneumoniae
2013 Standout
Constitutive Excitation by Gly90Asp Rhodopsin Rescues Rods from Degeneration Caused by Elevated Production of cGMP in the Dark
2007
Endogenous bacterial endophthalmitis An East Asian experience and a reappraisal of a severe ocular affliction
2000
A linkage map of mouse Chromosome 1 using an interspecific cross segregating for the gld autoimmunity mutation
1992
Gene–environment interactions—the BioBank UK study
2002
Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis
2004
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
2000
Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia
1997 Standout
Isolation and characterization of a candidate gene for Norrie disease
1992
Structure and functions of arrestins
1994
Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis
1996
Environmental light and endogenous antioxidants as the main determinants of non-cancer ocular diseases
2013
Retinitis pigmentosa
2006 Standout
‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?*
2003 Standout
Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders
2001
Cancer as an overhealing wound: an old hypothesis revisited
2008 Standout
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
1989
NRF2 plays a critical role in mitigating lipid peroxidation and ferroptosis
2019 Standout
Transcription Factor NRF2 as a Therapeutic Target for Chronic Diseases: A Systems Medicine Approach
2018 Standout
Leber congenital amaurosis: Genes, proteins and disease mechanisms
2008 Standout
Spectrum of retGC1 mutations in Leber's congenital amaurosis
2000
Characterization of the G Protein-coupled Receptor Kinase GRK4
1996 StandoutNobel
A Randomized, Double‐Blind, Placebo‐Controlled Trial of Acetazolamide for the Treatment of Elevated Intracranial Pressure in Cryptococcal Meningitis
2002
The Role of the Reactive Oxygen Species and Oxidative Stress in the Pathomechanism of the Age‐Related Ocular Diseases and Other Pathologies of the Anterior and Posterior Eye Segments in Adults
2016 Standout
Oxidative Stress in Cancer
2020 Standout
Retinopathy and attenuated circadian entrainment in Crx-deficient mice
1999
The Fas Death Factor
1995 StandoutScience
Hyperopia in Complicated Leber's Congenital Amaurosis
1990
ERG and VEP follow-up study in children with Leber's congenital amaurosis
1999
The epidemiology of retinitis pigmentosa in Denmark
2002
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
1997 StandoutNobel
Molecular Dissection of Norrie Disease
1998
Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease
2000
Cancer invasion and tissue remodeling‐cooperation of protease systems and cell types
1999
Functional overlap between two classes of matrix-degrading proteases in wound healing
1999
Retinitis Pigmentosa
1999
Prevalence and treatment patterns of psoriatic arthritis in the UK
2012
The ocular pathology in Leber's congenital amaurosis
1994
Gene therapy restores vision in a canine model of childhood blindness
2001 Standout
Mutations in the RPGR gene cause X-linked cone dystrophy
2002
Retinitis pigmentosa
1988
Hypoxia-Inducible Factor-Dependent Expression of Angiopoietin-Like 4 by Conjunctival Epithelial Cells Promotes the Angiogenic Phenotype of Pterygia.
2017 StandoutNobel
Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray
2007
Differences in Susceptibility to Inactivation of Human Aldehyde Dehydrogenases by Lipid Peroxidation Byproducts
2012
Type 2 diabetes: principles of pathogenesis and therapy
2005 Standout
Integrative analysis of proteomic and transcriptomic data for identification of pathways related to simvastatin‐induced hepatotoxicity
2013
Psoriasis Pathogenesis and Treatment
2019 Standout
Guanylyl Cyclases and Signaling by Cyclic GMP
2000 Standout
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
2003
Congenital Stationary Night Blindness Presenting as Leber's Congenital Amaurosis
1987
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
2000
Role of Aldehyde Dehydrogenases in Physiopathological Processes
2019
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
2001
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies
2004
How Matrix Metalloproteinases Regulate Cell Behavior
2001 Standout
Immunoregulatory effects of Fas-mediated signalling
1996 StandoutNobel
Biochemistry and Physiology of Cyclic Nucleotide Phosphodiesterases: Essential Components in Cyclic Nucleotide Signaling
2007 Standout
Molecular characterization of murine and human OX40/OX40 ligand systems: identification of a human OX40 ligand as the HTLV-1-regulated protein gp34.
1994 StandoutNobel
Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland.
1990
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of James Bateman being referenced
Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy
2001
Multiple and Additive Functions of ALDH3A1 and ALDH1A1
2007
Assignment of the S-antigen gene (SAG) to human chromosome 2q24–q37
1990
New spielmeyer‐vogt variant with granular inclusions and early brain atrophy
1995
Favorable Visual Outcome in Cryptococcal Meningitis
1997
Recombinational event between Norrie disease and DXS7 loci
1988
Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp
1992
Ligneous Conjunctivitis: An Autosomal Recessive Disorder
1986
Classification of Congenital and Early Onset Retinitis Pigmentosa
1985
Regional review of patients with psoriatic arthritis in secondary care in the West Midlands: prevalence, disease activity and eligibility for anti-tumour necrosis factor therapy.
2010
Virtual patient design: exploring what works and why. A grounded theory study
2013
Ocular Features of the Hagberg-Santavuori Syndrome
1986
Endogenous Endophthalmitis Caused by Streptococcus mitis
1997