Citation Impact
Citing Papers
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
2009 Standout
Crystal Structure of Rhodopsin: A G Protein-Coupled Receptor
2000 StandoutScience
Complement Factor H Polymorphism and Age-Related Macular Degeneration
2005 StandoutScience
Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
2005 StandoutScience
Complement Factor H Polymorphism in Age-Related Macular Degeneration
2005 StandoutScience
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
2000
Deep Brain Stimulation for Treatment-Resistant Depression
2005 Standout
Multidrug resistance in cancer: role of ATP–dependent transporters
2002 Standout
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
An inventory of the human ABC proteins
1999
Retinopathy in Mice Induced by Disrupted All-trans-retinal Clearance
2008
Chapter 26 Re-examination of the glucocorticoid hypothesis of stress and aging
1992
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa
2004
DNA Is a Target of the Photodynamic Effects Elicited in A2E-Laden RPE by Blue-Light Illumination
2003
Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease
1999
The Retinal Pigment Epithelium in Visual Function
2005 Standout
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
1999
Voltage-Gated Sodium Channels: Mutations, Channelopathies and Targets
2011
HPA function in adolescence: Role of sex hormones in its regulation and the enduring consequences of exposure to stressors
2006
Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor
1997
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
1998
(Patho)physiological Significance of the Serum- and Glucocorticoid-Inducible Kinase Isoforms
2006
Classical and new roles of β-arrestins in the regulation of G-PROTEIN-COUPLED receptors
2001 StandoutNobel
A HapMap harvest of insights into the genetics of common disease
2008
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
2000
Age-Related Macular Degeneration
2008 Standout
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
2006
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
Confronting Complexity: the Interlink of Phototransduction and Retinoid Metabolism in the Vertebrate Retina
2001
Age-Related Macular Degeneration—a Genome Scan in Extended Families
2003
Involvement of All-trans-retinal in Acute Light-induced Retinopathy of Mice
2009
Molecular characterisation of soft tissue tumours: a gene expression study
2002 Standout
Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: a possible mechanism for RPE aging and age-related macular degeneration
2003
Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration
2000
Clinical Course and Visual Function in a Family With Mutations in the RPE65 Gene
2002
Guillain-Barré syndrome
2016 Standout
Insights into the Function of Rim Protein in Photoreceptors and Etiology of Stargardt's Disease from the Phenotype in abcr Knockout Mice
1999
A Neanderthal Sodium Channel Increases Pain Sensitivity in Present-Day Humans
2020 StandoutNobel
Identification of the gene responsible for Best macular dystrophy
1998
The NaV1.7 sodium channel: from molecule to man
2012
Identification and Characterization of All-trans-retinol Dehydrogenase from Photoreceptor Outer Segments, the Visual Cycle Enzyme That Reduces All-trans-retinal to All-trans-retinol
2000
A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions
2003
Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy
2014
Balancing Acts
2004 Standout
Evaluation of the Clinical Age-Related Maculopathy Staging System
2006
Effects of stress throughout the lifespan on the brain, behaviour and cognition
2009 Standout
Genetic factors of age-related macular degeneration
2004
Mechanistic Studies of ABCR, the ABC Transporter in Photoreceptor Outer Segments Responsible for Autosomal Recessive Stargardt Disease
2001
The Biosynthesis of A2E, a Fluorophore of Aging Retina, Involves the Formation of the Precursor, A2-PE, in the Photoreceptor Outer Segment Membrane
2000
Do age-related macular degeneration and cardiovascular disease share common antecedents?
1999
Update on the molecular genetics of retinitis pigmentosa
2001
Localization of the Functional Domains of Human Tissue Inhibitor of Metalloproteinases-3 and the Effects of a Sorsby's Fundus Dystrophy Mutation
1998
Age-Related Macular Degeneration: Etiology, Pathogenesis, and Therapeutic Strategies
2003
Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)
1999
Heat Shock Protein A12B Protects Vascular Endothelial Cells Against Sepsis-Induced Acute Lung Injury in Mice
2017 Standout
Fluorescent pigments of the retinal pigment epithelium and age-related macular degeneration
2001
Assessment of mutations in the best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy
2001
ESDN, a Novel Neuropilin-like Membrane Protein Cloned from Vascular Cells with the Longest Secretory Signal Sequence among Eukaryotes, Is Up-regulated after Vascular Injury
2001 StandoutNobel
Molecular Determinants of Glucocorticoid Receptor Function and Tissue Sensitivity to Glucocorticoids
1996
The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology
2007 Standout
Coiled Coils Direct Assembly of a Cold-Activated TRP Channel
2006 StandoutNobel
Age-related macular degeneration
2012 Standout
Renewal of photoreceptor outer segments and their phagocytosis by theretinal pigment epithelium
2000
The effects of neonatal handling on the development of the adrenocortical response to stress: Implications for neuropathology and cognitive deficits in later life
1991
Clan Genomics and the Complex Architecture of Human Disease
2011
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy
1998 Nature
Glucocorticoids, hippocampal corticosteroid receptor gene expression and antidepressant treatment: relationship with spatial learning in young and aged rats
1995
Genetic influence on early age-related maculopathy
2002
Genetic links between brain development and brain evolution
2005
Retinitis pigmentosa
2006 Standout
Independent evolution of bitter-taste sensitivity in humans and chimpanzees
2006 Nature
Impaired type II glucocorticoid-receptor function in mice bearing antisense RNA transgene
1992 Nature
Protective and Damaging Effects of Stress Mediators
1998 Standout
Estrogen Receptors in Human Nontarget Tissues: Biological and Clinical Implications*
1995
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
1999
Age-related macular degeneration
2018 Standout
The receptors and cells for mammalian taste
2006 StandoutNature
The Human ATP-Binding Cassette (ABC) Transporter Superfamily
2001
Age-Related Macular Degeneration
2006
Sickle-cell disease
2010 Standout
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
2005
Molecular pathology of age-related macular degeneration
2008
Neural Science: A Century of Progress and the Mysteries that Remain
2000 StandoutNobel
RPE lipofuscin and its role in retinal pathobiology
2005
A constitutively open potassium channel formed by KCNQ1 and KCNE3
2000 StandoutNature
Autoimmune antigenic targets at the node of Ranvier in demyelinating disorders
2015
Molecular basis of agonism and antagonism in the oestrogen receptor
1997 StandoutNature
Current Concepts in the Pathogenesis of Age-Related Macular Degeneration
2004
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial
1999
High-throughput random mutagenesis screen reveals TRPM8 residues specifically required for activation by menthol
2006 StandoutNobel
Age-related Macular Degeneration
2000
CED-1 Is a Transmembrane Receptor that Mediates Cell Corpse Engulfment in C. elegans
2001 StandoutNobel
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Depression – emerging insights from neurobiology
2001
Simple and Complex ABCR: Genetic Predisposition to Retinal Disease
2000
Understanding the etiology of Stargardt's disease
2002
Risk factors and biomarkers of age-related macular degeneration
2016
ABC transporters in lipid transport
2000
Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases
2003
Genetic Risk of Age-related Maculopathy
1998
The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration
1999
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
1999
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness
1999
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly
2000
Rictor/TORC2 regulates fat metabolism, feeding, growth, and life span in Caenorhabditis elegans
2009 StandoutNobel
Molecular Neurobiology and Genetics: Investigation of Neural Function and Dysfunction
1998
Sodium channelSCN1Aand epilepsy: Mutations and mechanisms
2010
Age-related Macular Degeneration
1998
Developmental potential in the first 5 years for children in developing countries
2007 Standout
Biosynthetic Studies of A2E, a Major Fluorophore of Retinal Pigment Epithelial Lipofuscin
2002
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
1998
Evolution of primate gene expression
2006 StandoutNobel
Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration
2004
Retinitis Pigmentosa
1999
Molecular genetics of macular degeneration
2001
Uropathic Observations in Mice Expressing a Constitutively Active Point Mutation in the 5-HT3AReceptor Subunit
2004 StandoutNobel
Matrix Metalloproteinases
1999 Standout
Associations of cardiovascular disease and its risk factors with age-related macular degeneration: the POLA study
2001
Future Research Directions in Acute Lung Injury
2003
A carboxy‐terminal domain determines the subunit specificity of KCNQ K + channel assembly
2003
Macular pigment and risk for age-related macular degeneration in subjects from a Northern European population.
2001
Gain of Function Mutants: Ion Channels and G Protein-Coupled Receptors
2000
Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease
2002
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
2002
ABCR unites what ophthalmologists divide(s)
1998
Immunochemical recognition of A2E, a pigment in the lipofuscin of retinal pigment epithelial cells
2007
Inactivation of a Serotonin-Gated Ion Channel by a Polypeptide Toxin from Marine Snails
1998 StandoutScienceNobel
Coordinated Transcriptional Regulation of theunc-25Glutamic Acid Decarboxylase and theunc-47GABA Vesicular Transporter by theCaenorhabditis elegansUNC-30 Homeodomain Protein
1999 StandoutNobel
Fluorescence Lifetime Measurements and Biological Imaging
2010 Standout
DAF-16 Target Genes That Control C. elegans Life-Span and Metabolism
2003 StandoutScienceNobel
Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration
2004
Functional redundancy of cryptochromes and classical photoreceptors for nonvisual ocular photoreception in mice
2000 StandoutNobel
Maternal Care, Hippocampal Glucocorticoid Receptors, and Hypothalamic-Pituitary-Adrenal Responses to Stress
1997 StandoutScience
Neural Science
2000 StandoutNobel
Limited Roles of Rdh8, Rdh12, and Abca4 in all-trans-Retinal Clearance in Mouse Retina
2009
How Do Glucocorticoids Influence Stress Responses? Integrating Permissive, Suppressive, Stimulatory, and Preparative Actions*
2000 Standout
Molecular Genetics of Human Retinal Disease
1999
Regulation and Physiological Roles of Serum- and Glucocorticoid-Induced Protein Kinase Isoforms
2001
Pharmacology of the Na v 1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
2017 StandoutNobel
Nav1.1 Modulation by a Novel Triazole Compound Attenuates Epileptic Seizures in Rodents
2014
Lipopolysaccharide Endotoxins
2002 Standout
Photodamage to human RPE cells by A2-E, a retinoid component of lipofuscin.
2000
Age-related differences in glucocorticoid receptor mRNA levels in the human brain
2006
Cyclic Nucleotide-Gated Ion Channels
2002
Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration
2003
The US Twin Study of Age-Related Macular Degeneration
2005
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
2007
Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR -mediated retinal and macular degeneration
2000
Hypermorphic mutation of the voltage-gated sodium channel encoding gene Scn10a causes a dramatic stimulus-dependent neurobehavioral phenotype
2011 StandoutNobel
Stress, glucocorticoids, and aging
1992
The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells.
2000
Works of Andy Peiffer being referenced
Quantitative-Trait Loci on Chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 Control Variation in Levels of T and B Lymphocyte Subpopulations
2002
Estrogen-Induced Decrease of Glucocorticoid Receptor Messenger Ribonucleic Acid Concentration in Rat Anterior Pituitary Gland
1987
Microcephaly with simplified gyral pattern in six related children
1999
A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome
2009
Antidepressant and other centrally acting drugs regulate glucocorticoid receptor messenger RNA levels in rat brain
1991
Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p
2003
Community Engagement and Informed Consent in the International HapMap Project
2007
Age-related changes in glucocorticoid receptor binding and mRNA levels in the rat brain and pituitary
1991
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
1998
Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
1997 Science
Mutation of the Stargardt Disease Gene (ABCR) in Age-related Macular Degeneration
1998