Richard G. Weleber

Richard G. Weleber's AcademicInfluence.com Rankings

Richard G. Weleber

Philosophy

#8693

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#12119

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#7145

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philosophy Degrees

Richard G. Weleber

Biology

#11834

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#15261

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Physiology

#380

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#599

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Philosophy
Biology

Richard G. Weleber's Degrees

Doctorate Medicine University of California, San Francisco
PhD Physiology University of California, Davis

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Richard G. Weleber's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Long-term effect of gene therapy on Leber's congenital amaurosis. (2015) (582)
Evaluation of grid pattern photocoagulation for macular edema in central vein occlusion. The Central Vein Occlusion Study Group M report. (1995) (512)
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate (2000) (463)
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. (1998) (457)
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (2002) (354)
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness (2000) (332)
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. (1993) (317)
Molecular genetics of human blue cone monochromacy. (1989) (279)
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. (1998) (248)
Dose-response relationship between light irradiance and the suppression of plasma melatonin in human volunteers (1988) (242)
Mutations in the CRB1 gene cause Leber congenital amaurosis. (2001) (236)
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (2004) (235)
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia (2005) (222)
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (2005) (221)
The effect of age on human cone and rod ganzfeld electroretinograms. (1981) (219)
Age-related macular degeneration--a genome scan in extended families. (2003) (216)
Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy (2004) (212)
An analysis of allelic variation in the ABCA4 gene. (2001) (210)
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. (2003) (200)
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children (2010) (200)
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions (2017) (200)
Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. (1999) (192)
Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy. (2011) (179)
Dystrophin expression in the human retina is required for normal function as defined by electroretinography (1993) (179)
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. (2000) (176)
Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies. (2005) (170)
Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. (1990) (170)
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. (2016) (167)
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. (2000) (166)
Randomized trial of ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for retinitis pigmentosa. (2013) (165)
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy (2014) (164)
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease (2013) (160)
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (2000) (152)
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration (2018) (144)
Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia (2002) (140)
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. (2012) (139)
Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss (2008) (135)
Multifocal electroretinographic evaluation of long-term hydroxychloroquine users. (2004) (132)
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. (2000) (131)
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis (2012) (129)
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). (2003) (123)
Bietti's crystalline dystrophy. A clinicopathologic correlative study. (1989) (119)
Retinitis pigmentosa. A symposium on terminology and methods of examination. (1983) (114)
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. (2000) (113)
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. (2010) (111)
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database (2012) (108)
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants (2001) (103)
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. (2012) (101)
The dystrophic retina in multisystem disorders: The electroretinogram in neuronal ceroid lipofuscinoses (1998) (96)
Abnormal retinal function associated with isotretinoin therapy for acne. (1986) (92)
The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration (2007) (91)
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing (2016) (90)
Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families. (1990) (89)
Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. (1994) (87)
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). (2005) (85)
Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. (2015) (84)
Long-term Follow-up of Patients With Retinitis Pigmentosa Receiving Intraocular Ciliary Neurotrophic Factor Implants. (2016) (84)
Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. (2003) (84)
Nonsyndromic Retinitis Pigmentosa Overview (2017) (84)
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia (2016) (81)
Duplication-deficiency of the short arm of chromosome 8 following artificial insemination. (1976) (81)
Effect of Light Wavelength on the Suppression of Nocturnal Plasma Melatonin in Normal Volunteers a (1985) (81)
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. (2000) (80)
International Federation of Clinical Neurophysiology: Recommendations for visual system testing (2010) (79)
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. (2010) (79)
Genetic and phenotypic heterogeneity in pattern dystrophy (2005) (77)
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations (1999) (77)
A histopathologic study of a choroideremia carrier. (1990) (77)
Haplotypes in the Complement Factor H (CFH) Gene: Associations with Drusen and Advanced Age-Related Macular Degeneration (2007) (76)
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism (1995) (75)
Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina. (1998) (74)
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. (1986) (72)
mdx Cv3 Mouse Is a Model for Electroretinography of Duchenne/Becker Muscular Dystrophy (1995) (70)
Comparison of the new perimetric GATE strategy with conventional full-threshold and SITA standard strategies. (2009) (70)
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. (1992) (69)
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. (2011) (68)
Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants. (1999) (68)
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. (1992) (65)
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. (1986) (64)
OA1 mutations and deletions in X-linked ocular albinism. (1998) (64)
Digoxin retinal toxicity. Clinical and electrophysiological evaluation of a cone dysfunction syndrome. (1981) (64)
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. (1989) (64)
Retinal effects of 6 months of daily use of tadalafil or sildenafil. (2009) (61)
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. (2005) (61)
Optical Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris Loss With Overlying Degeneration. (2016) (59)
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. (2019) (59)
Discrete expression and distribution pattern of TIMP-3 in the human retina and choroid. (1997) (59)
Ring-G chromosome, a new G-deletion syndrome? (1968) (58)
A°land Island Eye Disease (Forsius-Eriksson Syndrome) Associated With Contiguous Deletion Syndrome at Xp21: Similarity to Incomplete Congenital Stationary Night Blindness (1989) (58)
Quantification of Ellipsoid Zone Changes in Retinitis Pigmentosa Using en Face Spectral Domain-Optical Coherence Tomography. (2016) (58)
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. (1999) (57)
Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations. (1983) (57)
Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. (1981) (54)
Retinal Function and Physiological Studies (1988) (53)
Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa. (1989) (53)
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1) (1997) (52)
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. (2012) (51)
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). (2004) (51)
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change (1999) (50)
Ophthalmologic and systemic manifestations of Alström's disease. (1986) (50)
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. (2008) (50)
Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa. (1994) (49)
Infantile and childhood retinal blindness: A molecular perspective (The Franceschetti Lecture) (2002) (48)
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA (2017) (48)
Tandem duplication of proximal 22q: a cause of cat-eye syndrome. (1985) (47)
Retinitis Pigmentosa Overview (2013) (47)
VFMA: Topographic Analysis of Sensitivity Data From Full-Field Static Perimetry. (2015) (47)
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. (1998) (47)
Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram (2007) (47)
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. (1980) (46)
Ophthalmic manifestations of infantile phytanic acid storage disease. (1984) (46)
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. (2013) (46)
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. (1976) (44)
Predicting the pathogenicity of RPE65 mutations (2009) (44)
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. (2011) (42)
Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier (2008) (42)
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD Locus in the Context of Complex Disease: Review and Perspective (2005) (42)
Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis. (1983) (42)
Computerized quantitative analysis of kinetic visual fields. (1986) (41)
mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. (1995) (41)
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy. (2018) (40)
OUTCOME MEASURES AND THEIR APPLICATION IN CLINICAL TRIALS FOR RETINAL DEGENERATIVE DISEASES: Outline, Review, and Perspective (2005) (40)
Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts. (1977) (40)
Molecular testing for hereditary retinal disease as part of clinical care. (2007) (40)
Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23. (2003) (38)
Stargardt's macular dystrophy. (2000) (38)
Chapter 40 – Retinitis Pigmentosa and Allied Disorders (2013) (38)
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. (2005) (38)
Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial (2016) (37)
A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa. (1995) (36)
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. (2009) (36)
Ocular clinicopathologic study of gyrate atrophy. (1991) (36)
ELECTRORETINOGRAPHIC FINDINGS IN PATIENTS WITH STARGARDT DISEASE AND FUNDUS FLAVIMACULATUS (2002) (36)
Retinal dystrophy in Jeune's syndrome. (1987) (36)
Structure-Function Modeling of Optical Coherence Tomography and Standard Automated Perimetry in the Retina of Patients with Autosomal Dominant Retinitis Pigmentosa (2016) (35)
Sperm abnormalities in retinitis pigmentosa. (1997) (35)
Congenital stationary night blindness presenting as Leber's congenital amaurosis. (1987) (33)
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. (1990) (33)
VITAMIN B6 IN MANAGEMENT OF GYRATE ATROPHY OF CHOROID AND RETINA (1978) (33)
Normal Values for the Full Visual Field, Corrected for Age- and Reaction Time, Using Semiautomated Kinetic Testing on the Octopus 900 Perimeter (2016) (33)
Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram (2007) (33)
High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. (2010) (32)
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. (2014) (32)
A new locus for autosomal dominant congenital cataracts maps to chromosome 3. (2000) (32)
The Effect of Multispot Laser Panretinal Photocoagulation on Retinal Sensitivity and Driving Eligibility in Patients With Diabetic Retinopathy. (2016) (32)
Cone Degeneration (Bull’s Eye Dystrophies) and Color Vision Defects (1988) (31)
Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodies. (2009) (31)
Expression defect of ornithine aminotransferase gene in gyrate atrophy. (1988) (31)
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1. (2011) (31)
Molecular and Clinical Findings in Patients With Knobloch Syndrome. (2016) (30)
Acute macular outer retinopathy (AMOR): a reappraisal of acute macular neuroretinopathy using multimodality diagnostic testing. (2011) (30)
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF CHOROIDAL NEOVASCULARIZATION IN FOUR INHERITED RETINAL DYSTROPHIES (2016) (30)
Ophthalmologic screening of deaf students in Oregon. (2001) (30)
Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6. (1989) (29)
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. (2019) (29)
CLINICAL PHENOTYPE AS A PROGNOSTIC FACTOR IN STARGARDT DISEASE (2004) (29)
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2) (1997) (29)
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial (2018) (29)
Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. (1998) (28)
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. (2001) (28)
Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. (1988) (27)
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. (1996) (27)
Projection-Resolved Optical Coherence Tomographic Angiography of Retinal Plexuses in Retinitis Pigmentosa. (2019) (27)
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. (1989) (27)
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy (2016) (27)
Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy. (2003) (27)
Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46, XX, 22r) G deletion syndrome II. (1972) (27)
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome. (1993) (26)
Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry–Derived Metrics in RPGR-Associated Retinopathy (2018) (26)
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. (2017) (25)
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. (1998) (25)
Molecular genetic heterogeneity in autosomal dominant drusen (2001) (25)
X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. (1997) (23)
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. (1994) (23)
Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months (2018) (23)
Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2 (2008) (22)
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. (1999) (22)
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy (2019) (22)
Aicardi's syndrome. Case report, clinical features, and electrophysiologic studies. (1978) (21)
Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography. (2017) (21)
Clinical diagnoses that overlap with choroideremia. (2003) (21)
Ruvalcaba‐Myhre‐Smith Syndrome (1988) (21)
Age-related Macular Degeneration Clinical Features in a Large Family and Linkage to Chromosome 1 q (2000) (21)
Non-Hodgkin's lymphoma causing fundus picture simulating fundus flavimaculatus. (1987) (21)
Electronegative electroretinogram in mucolipidosis IV. (2002) (20)
Microcephaly with chorioretinal degeneration. (1998) (20)
INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING (2016) (19)
Conorenal dysplasia: A syndrome of cone‐shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur (2007) (19)
Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease (2018) (19)
Leber Congenital Amaurosis (2013) (19)
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy (2018) (19)
Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2 (2017) (19)
Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning (2018) (18)
Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia (2004) (18)
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. (2016) (18)
Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation. (2015) (17)
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. (2000) (17)
Inherited and orphan retinal diseases: phenotypes, genotypes, and probable treatment groups. (2005) (17)
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis (2018) (16)
Cytogenetic investigation of cat-eye syndrome. (1977) (15)
Bietti’s Crystalline Dystrophy (2012) (15)
Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa (2004) (15)
Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa (2020) (14)
Chromosome anomalies. (1967) (14)
Expanded genome scan in extended families with age-related macular degeneration. (2007) (14)
Long-Term Investigation of Retinal Function in Patients with Achromatopsia (2020) (14)
Unique epitopes for carbonic anhydrase II autoantibodies related to autoimmune retinopathy and cancer-associated retinopathy. (2016) (13)
The Cuban experience. False hope for a cure for retinitis pigmentosa. (1996) (13)
Chapter 17 – Retinitis Pigmentosa and Allied Disorders (2006) (13)
NON‐HODGKIN'S LYMPHOMA CAUSING FUNDUS PICTURE SIMULATING FUNDUS FLAVIMACULATUS (1988) (13)
Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype (2004) (13)
Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab (2014) (13)
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina. (1989) (13)
Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6. (1982) (12)
Familial optic atrophy with negative electroretinograms. (1992) (12)
Variability in Isopter Position and Fatigue during Semi-Automated Kinetic Perimetry (2011) (12)
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia (2016) (12)
Disease Expression of RP 1 Mutations Causing Autosomal Dominant Retinitis Pigmentosa (2000) (12)
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy (2020) (11)
Effect of Methazolamide on Chronic Macular Edema in Patients with Retinitis Pigmentosa (1995) (11)
Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. (2005) (11)
Novel variants in PNPLA6 causing syndromic retinal dystrophy. (2020) (10)
Allelic Variation in the VMD 2 Gene in Best Disease and Age-Related Macular Degeneration (2000) (10)
EFFECT OF GLUCAGON ON INCORPORATION OF GLYCINE-C14 INTO PROTEIN OF VOLUNTARY SKELETAL MUSCLE. (1963) (10)
An eye for an eye: New models of genetic ocular disease (1997) (10)
Gyrate atrophy of the choroid and retina (1981) (10)
Quantification of the Visual Field Loss in Retinitis Pigmentosa Using Semi-Automated Kinetic Perimetry (2016) (10)
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. (1999) (9)
GYRATE ATROPHY‐LIKE PHENOTYPE WITH NORMAL PLASMA ORNITHINE (1997) (9)
Abnormal night vision and altered dark adaptometry in patients treated with isotretinoin for acne. (1986) (9)
Acute zonal occult outer retinopathy (AZOOR) and pars planitis: a new association? (2008) (8)
Comparison of nonparametric methods for static visual field interpolation (2016) (8)
Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. (1998) (8)
Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (2012) (8)
A deletion in the ornithine aminotransferase gene in gyrate atrophy. (1992) (8)
Early findings in a Phase I/IIa clinical program for Stargardt disease (STGD1, MIM #248200) (2015) (8)
The ‘dark’ side of sedation: 12 years of office‐based pediatric deep sedation for electroretinography in the dark (2011) (8)
Three-year safety results of SAR422459 (EIAV-ABCA4) gene therapy in patients with ABCA4-associated Stargardt disease: An open-label dose-escalation phase I/IIa clinical trial, cohorts 1-5. (2022) (7)
Gyrate atrophy of the choroid and retina. Approaches to therapy. (1981) (7)
The Progression of Stargardt Disease using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15. (2021) (7)
Serum IgM in retinitis pigmentosa: A genetic study (1978) (7)
Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina (1985) (7)
Vitamin A megatherapy for retinal abnormalities (1995) (7)
Expanded Genome Scan in Extended Families with Age-Related Macular Degeneration (2006) (7)
Molecular genetics of ornithine aminotransferase defect in gyrate atrophy. (1989) (6)
Retinal Toxicity of Therapeutic Agents (1983) (6)
One Year Results of a Phase I/IIa Study of SAR422459 in Patients with Stargardt Macular Degeneration (SMD) (2017) (6)
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy (2017) (6)
UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 ) (2003) (6)
Prevalence of Mutations in the RPE65, CRX, AIPL1, TULP1, GUCY2D and CRB1 Genes in Leber Congenital Amaurosis (2003) (5)
Joubert syndrome surviving to adulthood associated with a progressive movement disorder (2007) (5)
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis (2021) (5)
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram (Opthalmic Genetics (2007) 28, (135-142)) (2007) (5)
Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy. (2016) (5)
Evidence that FIBL-6 is the ARMD1 Gene (2003) (5)
TIMP3 expression in the human retina and choroid (1996) (4)
New Technologies for Outcome Measures in Retinal Disease: Review from the European Vision Institute Special Interest Focus Group (2019) (4)
Recommendations of the American Academy of Ophthalmology Task Force on Genetic Testing (2012) (4)
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants (2019) (4)
Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy (2021) (4)
Early findings in a Phase I/IIa clinical program for Usher syndrome 1B (USH1B; MIM #276900) (2015) (4)
Incidence of Drusen-like Changes in a Rhesus Monkey Colony: Effects of Age, Gender and Dietary Carotenoids (2003) (4)
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy (1992) (4)
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia (2022) (3)
Molecular basis of ornithine aminotransferase defect in gyrate atrophy. (1991) (3)
Normal α-L-Fucosidase and Other Lysosomal Enzyme Activities in Progressive Cone Dystrophy (1988) (3)
Selected causes of blindness in infants and children (1981) (3)
Age-related Macular Degeneration: A Genome-wide Scan in Extended Families (2003) (3)
Modeling and Analysis of the Hill of Vision of Full-Field Static Perimetry (2009) (2)
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt disease using en face OCT and OCT Angiography (2019) (2)
Electrophysiologic Testing in Disorders of the Retina, Optic Nerve, and Visual Pathway (1991) (2)
A Unique Case of Autoimmune Retinopathy Associated with Anti-Alpha-Enolase Antibodies (2011) (2)
Prediction of Retinal Phenotype and Progression Based on Autoantibody Profile in Paraneoplastic and Autoimmune Retinopathy (2008) (2)
Comparison of the New German Adaptive Threshold Estimation (GATE) Strategy With Conventional Static Threshold Estimating Perimetry and With the SITA Procedure (2007) (2)
ect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein de W ciency (2005) (2)
TRISOMY 21 OR 22 IN DOWN'S SYNDROME ? (1967) (2)
A Histopafhologic Study of a Choroideremio Carrier (1990) (2)
Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (2012) (2)
Comparison of interpolation algorithms for static visual field data (2015) (2)
X-Linked Recessive Mutations in Simplex Males With Retinitis Pigmentosa (2010) (2)
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree (2021) (2)
Molecular advances in retinitis pigmentosa. (1991) (2)
Electrophysiological evaluation of children with visual impairment. (1991) (2)
Extracellular Matrix Dysfunction in Sorsby Patient-Derived Retinal Pigment Epithelium (2021) (1)
Lentiviral Vector Gene Replacement Therapy in Stargardt Disease and Usher Syndrome type Ib (2012) (1)
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue (2012) (1)
Mutation Analysis in a Cohort of CSNB Patients: Novel Mutations in TRPM1 Gene (2010) (1)
Age-Corrected Normative Data for the Entire (80 Degree) Visual Field, Assessed With a New Fast Thresholding Estimation (GATE) (2009) (1)
Primary Photoreceptor Degenerations: Retinitis Pigmentosa (2010) (1)
New Technologies for Outcome Measures in Glaucoma: Review by the European Vision Institute Special Interest Focus Group (2020) (1)
Disease-Causing Mutations in the RPE65 Gene Abolish Retinoid Isomerase Activity (2007) (1)
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium. (2021) (1)
Electroretinographic findings in transplant chorioretinopathy (2010) (1)
Optical Coherence Tomography Angiography in Choroideremia Correlating Choriocapillaris LossWith Overlying Degeneration (2016) (1)
Electroretinographic genotype-phenotype correlations for mouse and man at the dmd/DMD locus (1994) (1)
Test-Retest Variability of Functional and Structural Parameters in patients with ABCA4-related retinopathy (2016) (1)
Mild mental retardation with unusual features including cataracts, hyperostosis frontalis interna, oligomenorrhea, and dislocating patellae (MR/CHOP) (1976) (1)
Exon screening of the genes encoding the β- and γ-subunits of cone transducin in patients with inherited retinal disease (1998) (1)
Area Measurement of the Ellipsoid Zone (EZ) by SD-OCT and its Correlation with Visual Field Identifies a Potential Anatomical Endpoint for Clinical Trials in Retinitis Pigmentosa (RP) (2014) (1)
Treatment of Patients with Leber Congenital Amaurosis Type 2 with an AAV Vector Expressing RPE65 (2013) (1)
Clinical and Electrophysiologic Evaluation of a Cone Dysfunction Syndrome (2017) (1)
Hereditary dystrophies of the choroid and retina (1979) (1)
Functional evaluation in inherited retinal disease (2021) (1)
INFANTILE PHYTANIC ACID STORAGE DISEASE: A DEFECT IN PHYTANIC ACID OXIDATION (1984) (1)
Comparison Between Age-Corrected Normative Threshold Values for the Static Stimulus Sizes Goldmann III and V, Assessed With a New Fast Thresholding Estimation (GATE) (2009) (1)
Early Treatment with Mycophenolate Mofetil Reduces Retinal Degeneration and cGMP Dysregulation in rd10 and rd1 mice (2018) (1)
Table 1. [Summary of Molecular Genetic Testing Used in Leber Congenital Amaurosis]. (2013) (0)
Neuroprotective Mechanisms of Dark Rearing on cGMP in rd10 mice (2020) (0)
Muscular dystrophy dy/dy mice: Abnormal ERG suggests contribution of dystrophin-associated proteins in normal retinal electrophysiology (1996) (0)
Projection-Resolved Optical Coherence Tomography Angiography of Retinal Plexusess in Retinitis Pigmentosa and Usher Syndrome Type 1 (2018) (0)
Table 2. [Genes Associated with Autosomal Dominant Retinitis Pigmentosa (adRP)]. (2013) (0)
DGGE and SSCPE screening of the gene for the gamma subunit of cone transducin in patients with cone disease (1996) (0)
Mycophenolate mofetil is neuroprotective in a mouse model of retinitis pigmentosa (RP) (2015) (0)
Lack of an Association Between the SOD2 Ala/Val Polymorphism and Age-related Macular Degeneration (AMD) (2002) (0)
Software for digitization and three-dimensional volumetric measurement of Kinetic Perimetry (2018) (0)
Book Review (2004) (0)
A prospective pilot study of the effects of panretinal photocoagulation delivered with a multi-spot laser on retinal sensitivity and driving eligibility in patients with diabetic retinopathy (2014) (0)
Table 7. [CRX Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
A Simulation based Approach for Detection of Retinitis Pigmentosa using Protein Synthesis (2020) (0)
Retina Residual Foveal Cone Structure in CNGB 3-Associated Achromatopsia (2016) (0)
Table 4. [Genes Associated with X-Linked RP (xlRP)]. (2013) (0)
Ocular manifestations of De Lang syndrome (1975) (0)
A network of patients with orphan retinal diseases for clinical trials: goals, structure, challenges. (2005) (0)
Test-Retest Variability of Functional and Structural Parameters in patients with Usher Syndrome Type-1B (USH1B) (2018) (0)
Detailed Electrophysiological and Phenotypic Analysis of Knobloch Syndrome (2007) (0)
Assessing color vision in congenital achromatopsia (2016) (0)
B.L. Lam Electrophysiology of Vision, Clinical Testing and Applications Taylor & Francis. London, 2005, $149.95, ISBN 0:8247-4068-8 (2006) (0)
Normal alpha-L-fucosidase and other lysosomal enzyme activities in progressive cone dystrophy. (1988) (0)
A Strategy for Efficient Molecular Diagnosis of Genetically Heterogeneous Autosomal Recessive Diseases (2007) (0)
[Table, Table 5. LCA5 Pathogenic Variants Discussed in This GeneReview] (2013) (0)
Table 8. [CRB1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Segregation analysis of ocular refraction and myopia: by G.C. Ashton, Hum Hered 35:232–239, 1985 (1987) (0)
Strategies for Treating Inherited Retinal Degeneration With Large Genes That Are Not Amenable to Adeno-Associated Virus-Based Gene Replacement Therapy. (2021) (0)
Table 3. [Genes Associated with Autosomal Recessive Retinitis Pigmentosa (arRP)]. (2013) (0)
Description of the Natural History of Autosomal Dominant Retinitis Pigmentosa Caused by an Arg135Leu Mutation in Rhodopsin in a Nine Generation Family (2003) (0)
Primary Photoreceptor Degenerations: Terminology (2010) (0)
Table 6. [RPGRIP1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Safety Profile of the Surgical Procedure for the Administration of Ocular Gene Therapies (2017) (0)
Erratum (1976) (0)
Assessing Cone Structure in Achromatopsia With AOSLO and SDOCT (2016) (0)
Comparison of Scotopic and Photopic Mouse ERGs (Electroretinogram) Under Isoflurane and Ketamine Anesthesia (2006) (0)
Specific reading disability: Identification of an inherited form through linkage analysis (1983) (0)
Quantification of Vision Loss in Stargardt disease using Visual Field Modeling and Analysis (2012) (0)
Symmetry of inherited eye disease (2017) (0)
A Screen for Mutations of the Aipl1 Gene in Patients With Supernormal Scotopic Erg B–Wave (2005) (0)
NEW CHROMOSOMAL AND MALFORMATION SYNDROMES (1975) (0)
Table 9. [NMNAT1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Foveal detachment in patients undergoing gene therapy for Stargardt disease (STGD1, MIM #248200) (2015) (0)
Erratum: Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (European Journal of Human Genetics (2012) 20 (897-904) DOI:10.1038/ejhg.2012.44) (2012) (0)
Table 2. [Selected CYP4V2 Pathogenic Allelic Variants]. (2012) (0)
Panel-based Next Generation Sequencing improves mutation detection in Cone Rod Dystrophy patients (2015) (0)
Analysis of small recessive RP families for mutations in candidate genes (1996) (0)
Pattern dystrophy: evidence of digenic inheritance and studies of visual outcome (2004) (0)
Table 4. [AIPL1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Intravitreal Anti-VEGF Therapy for Choroidal Neovascularization-Associated with Best Vitelliform Macular Dystrophy (2018) (0)
Modeling and Analysis of the Hill of Vision (HOV) in Pigmented Paravenous Retinochoroidal Atrophy (PPRCA) Using Full-Field Static Perimetry (2010) (0)
Hand-Held Spectral-Domain Optical Coherence Tomography In The Evaluation Of Pediatric Patients With Congenital Nystagmus (2011) (0)
Table 11. [RD3 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Table 1. [Causes of Nonsyndromic Retinitis Pigmentosa by Mode of Inheritance]. (2013) (0)
OCT angiography provides insights into choroideremia pathology (2015) (0)
A Molecular Screening Test for Usher Syndrome (2009) (0)
Volumetric assessment of scotopic visual field sensitivity in retinitis pigmentosa (2017) (0)
Mouse ERG (Electroretinogram) Is Not Affected by Use of Isoflurane versus Ketamine Anesthetic (2006) (0)
Table 3. [SPATA7 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Identification of choriocapillaris in choroideremia using optical coherence tomography angiography (2016) (0)
Autoimmune Retinopathies From Antibodies Against Arrestin, Calbindin, Rhodopsin Kinase, And Carbonic Anhydrase (2006) (0)
Dark-rearing reduces degeneration and alters the characteristics of cGMP dysregulation in rd10 mice (2018) (0)
Effects of Isoflurane and Ketamine Anesthesia on Murine Photopic and Scotopic Electroretinograms (ERGs) (2004) (0)
Phenotype - Genotype Correlation in Patients With Retinal Degenerations (2009) (0)
Test-Retest Variability for Semi-Automated Kinetic Perimetry and GATE Static Perimetry in Retinitis Pigmentosa (2013) (0)
Outer Retinal Tubulations in Boucher-Neuhauser Syndrome (2018) (0)
Retinal Analysis of a Female Symptomatic Carrier of Choroideremia (2007) (0)
Author reply: To PMID 22944025. (2013) (0)
Next Generation Sequencing in Pigmented Paravenous Retinochoroidal Atrophy (2018) (0)
Chronic Severe Periorbital Edema (1976) (0)
Table 10. [CEP290 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Genotype-phenotype correlation in retinopathy associated with mitochondrial trifunctional protein disorders: Long-term follow-up of 21 cases (2015) (0)
Contents Vol. 63, 2007 (2007) (0)
A Method for Deducing the Pathogenic Contribution of Individual Recessive Disease Alleles (2009) (0)
The Importance of Chromosomal Studies in Ophthalmology (1984) (0)
Characteristic electroretinographic findings in quinine retinal toxicity (1996) (0)
Recommendations for Genetic Testing of Inherited Eye Diseases-aao-recommendaiton-on-genetic-testing-12-11-09(1) (2014) (0)
Table 2. [GUCY2D Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
A Novel Mutation in the Complement Factor H Gene in a Family With Age-Related Macular Degeneration (2007) (0)
Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl (2023) (0)
Comparison of nonparametric methods for static visual field interpolation (2016) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Bietti Crystalline Dystrophy]. (2012) (0)
Slow Insensitive Scotopic Responses in Three Children With Leber Congenital Amaurosis (LCA): A New Electroretinogram (ERG) Phenotype? (2009) (0)
Subject Index Vol. 63, 2007 (2007) (0)

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