FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Richard Weleber

Research Profile

Procedures

Concepts & Ideas

Physiology

Disorders

Anatomy

Chemicals & Drugs

Living Beings

Infants

Co-author Network

Publications

TOP 3
J Jason McAnany; Alison Smith; Edwin M Stone; Elias I Traboulsi; Saloni Walia; Richard G Weleber; Arlene V Drack; Mohamed A Genead; Samuel G Jacobson; Robert K Koenekoop; Gerald A Fishman
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.
Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Edwin M Stone; Elias Traboulsi; Anthony J Aldave; Arlene V Drack; Mathew W MacCumber; Val C Sheffield; Richard G Weleber
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Richard Weleber (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: J Jason McAnany; Alison Smith; Edwin M Stone; Elias I Traboulsi; Saloni Walia; Richard G Weleber; Arlene V Drack; Mohamed A Genead; Samuel G Jacobson; Robert K Koenekoop; Gerald A Fishman
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.
JAMA ophthalmology 2013;131(2):178-82.
2012: Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Investigative ophthalmology & visual science 2012;53(13):8232-7.
2012: Edwin M Stone; Elias Traboulsi; Anthony J Aldave; Arlene V Drack; Mathew W MacCumber; Val C Sheffield; Richard G Weleber
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.
Ophthalmology 2012;119(11):2408-10.
2012: Pei-Wen Chiang; KuangHsiang Chuang; Peikuan Cong; Megan Day; Quan Fu; Luis Alexandre Rassi Gabriel; Haixue Gan; Elise Heon; Juliana Maria Ferraz Sallum; Yong Shi; Joanne Sutherland; Juan Wang; Richard G Weleber; Dianna Wheaton; Renhua Wu; Sheng Ye; Xin Yi; Jing Zhong; Christopher Barnett; Yang Chen; Yanhua Chen; Yanling Chen; Ming Qi
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Nature genetics 2012;44(9):972-4.
2012: Helen A L Tuppen; Richard G Weleber; Rolf Wibom; John W Yarham; Mazhor Al-Dosary; Emma L Blakely; Helene Bruhn; Nancy G Kennaway; Nicole Lesko; Karin Naess; Inger Nennesmo; Robert W Taylor; Robert McFarland
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
European journal of human genetics : EJHG 2012;20(8):897-904.
2012: Autumn L Fletcher; Cary O Harding; Mark E Pennesi; Richard G Weleber; Melanie B Gillingham
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Molecular genetics and metabolism 2012;106(1):18-24.
2012: Katarzyna Nowomiejska; Robert Rejdak; Richard G Weleber; Tomasz Zarnowski; Agnieszka Brzozowska; Ulrich Schiefer
Variability in isopter position and fatigue during semi-automated kinetic perimetry.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2012;227(3):166-72.
2011: Mark E Pennesi; Edwin M Stone; Niamh B Stover; Pei-Wen Chiang; Richard G Weleber
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
Investigative ophthalmology & visual science 2011;52(11):8166-73.
2011: Steven Yeh; Thomas S Hwang; Richard G Weleber; Robert C Watzke; Peter J Francis
Acute macular outer retinopathy (AMOR): a reappraisal of acute macular neuroretinopathy using multimodality diagnostic testing.
Archives of ophthalmology 2011;129(3):365-8.
2011: Paul A Kurz; Rachel E Reem; Daryl E Kurz; Richard G Weleber
A unique case of autoimmune retinopathy associated with anti-alpha-enolase antibodies.
Case reports in ophthalmological medicine 2011;2011():371324.
2011: Michel Michaelides; Niamh B Stover; Peter J Francis; Richard G Weleber
Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy.
Archives of ophthalmology 2011;129(1):30-9.
2011: Kirk Lalwani; Brian D Tompkins; Kevin Burnes; Melissa R Krahmer; Mark Pennesi; Richard G Weleber
The 'dark' side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark.
Paediatric anaesthesia 2011;21(1):65-71.
2011: Richard G Weleber; Michel Michaelides; Karmen M Trzupek; Niamh B Stover; Edwin M Stone
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
Investigative ophthalmology & visual science 2011;52(1):292-302.
2010: Anjali M Rajadhyaksha; Olivier Elemento; Erik G Puffenberger; Kathryn C Schierberl; Jenny Z Xiang; Maria L Putorti; José Berciano; Chantal Poulin; Bernard Brais; Michel Michaelides; Richard G Weleber; Joseph J Higgins
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
American journal of human genetics 2010;87(5):643-54.
2010: Graham E Holder; Gastone G Celesia; Yozo Miyake; Shozo Tobimatsu; Richard G Weleber
International Federation of Clinical Neurophysiology: recommendations for visual system testing.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2010;121(9):1393-409.
2010: William J Kimberling; Michael S Hildebrand; A Eliot Shearer; Maren L Jensen; Jennifer A Halder; Karmen Trzupek; Edward S Cohn; Richard G Weleber; Edwin M Stone; Richard J H Smith
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(8):512-6.
2010: Saloni Walia; Gerald A Fishman; Samuel G Jacobson; Tomas S Aleman; Robert K Koenekoop; Elias I Traboulsi; Richard G Weleber; Mark Pennesi; Elise Heon; Arlene Drack; Byron Lam; Rando Allikmets; Edwin M Stone
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Ophthalmology 2010;117(6):1190-8.
2010: Mark Pennesi; Richard G Weleber
High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy.
Retina (Philadelphia, Pa.) 2010;30(3):531-2.
2010: Brian T Chan-Kai; Steven Yeh; Richard G Weleber; Peter J Francis; Grazyna Adamus; S Robert Witherspoon; Andreas K Lauer
Electroretinographic findings in transplant chorioretinopathy.
Clinical ophthalmology (Auckland, N.Z.) 2010;4():777-83.
2009: Grazyna Adamus; Lori Brown; Richard G Weleber
Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodies.
Experimental and molecular pathology 2009;87(3):195-203.
2009: Alisdair R Philp; M Jin; S Li; E I Schindler; A Iannaccone; Byron Lam; Richard G Weleber; Gerald A Fishman; Samuel G Jacobson; robert Mullins; Gabriel H Travis; Edwin M Stone
Predicting the pathogenicity of RPE65 mutations.
Human mutation 2009;30(8):1183-8.
2009: Elliott H Sohn; Peter J Francis; Jacque L Duncan; Richard G Weleber; David A Saperstein; Donald F Farrell; Edwin M Stone
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
Archives of ophthalmology 2009;127(7):913-20.
2009: Peter J Francis; S C Hamon; Jurg Ott; Richard G Weleber; Michael L Klein
Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss.
Journal of medical genetics 2009;46(5):300-7.
2009: William H Cordell; raj maturi; Timothy M Costigan; Michael F Marmor; Richard G Weleber; Stuart G Coupland; Ronald P Danis; John W McGettigan; Andrew N Antoszyk; Suzanne Klise; Gregory D Sides
Retinal effects of 6 months of daily use of tadalafil or sildenafil.
Archives of ophthalmology 2009;127(4):367-73.
2009: Ulrich Schiefer; John P Pascual; Lorna (Beth) Edmunds; Elisabeth Feudner; Esther M Hoffmann; Chris A Johnson; Wolf A Lagrèze; Norbert Pfeiffer; Pamela A Sample; Flemming Staubach; Richard G Weleber; Reinhard Vonthein; Elke Krapp; Jens Paetzold
Comparison of the new perimetric GATE strategy with conventional full-threshold and SITA standard strategies.
Investigative ophthalmology & visual science 2009;50(1):488-94.
2008: Elizabeth A Grant; Karmen M Trzupek; Jacob A. Reiss; Kate Crow; Ludwine MESSIAEN; Richard G Weleber
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.
Ophthalmic genetics 2008;29(3):133-8.
2008: Vera L Bonilha; Karmen M Trzupek; Yong Li; Peter J Francis; Joe G Hollyfield; Mary E Rayborn; Nizar Smaoui; Richard G Weleber
Choroideremia: analysis of the retina from a female symptomatic carrier.
Ophthalmic genetics 2008;29(3):99-110.
2008: S M Sharma; R C Watzke; Richard G Weleber; Justine R Smith; Peter J Francis
Acute zonal occult outer retinopathy (AZOOR) and pars planitis: a new association?
The British journal of ophthalmology 2008;92(4):583-4.
2008: Saloni Walia; Gerald A Fishman; Anand Swaroop; Kari E H Branham; Martin Lindeman; Mohammad Othman; Richard G Weleber
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
Archives of ophthalmology 2008;126(3):379-84.
2007: William R Woodward; Dongseok Choi; Jared Grose; Bojan Malmin; Sawan Hurst; Jiaqing Pang; Richard G Weleber; De-Ann M Pillers
Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram.
Documenta ophthalmologica. Advances in ophthalmology 2007;115(3):187-201.
2007: Rodney K Beals; Richard G Weleber
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur.
American journal of medical genetics. Part A 2007;143A(20):2444-7.
2007: Sureka Thiagalingam; Terri L McGee; Richard G Weleber; Michael A Sandberg; Karmen M Trzupek; Eliot L Berson; Thaddeus P Dryja
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Ophthalmic genetics 2007;28(3):135-42.
2007: Karmen M Trzupek; Rena E Falk; Joseph L Demer; Richard G Weleber
Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.
American journal of medical genetics. Part A 2007;143A(11):1218-22.
2007: Katy Downs; David N Zacks; Rafael Caruso; Athanasios J Karoukis; Kari E H Branham; Beverly M Yashar; Mark H Haimann; Karmen M Trzupek; Meira Meltzer; Delphine Blain; Julia E Richards; Richard G Weleber; John R Heckenlively; Paul Sieving; Radha Ayyagari
Molecular testing for hereditary retinal disease as part of clinical care.
Archives of ophthalmology 2007;125(2):252-8.
2007: Steven A Gunzler; A Jon Stoessl; Robert A Egan; Richard G Weleber; Paul Wang; John G Nutt
Joubert syndrome surviving to adulthood associated with a progressive movement disorder.
Movement disorders : official journal of the Movement Disorder Society 2007;22(2):262-5.
2007: Peter J Francis; Dennis W Schultz; Sara Hamon; Jurg Ott; Richard G Weleber; Michael L Klein
Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.
PloS one 2007;2(11):e1197.
2007: Peter J Francis; Sarah George; Dennis W Schultz; Bernard Rosner; Sara Hamon; Jurg Ott; Richard G Weleber; Michael L Klein; Johanna M Seddon
The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration.
Human heredity 2007;63(3-4):212-8.
2006: Sandra Barral; Peter J Francis; Dennis W Schultz; Mitchell B Schain; Chad Haynes; Jacek Majewski; Jurg Ott; Ted S Acott; Richard G Weleber; Michael L Klein
Expanded genome scan in extended families with age-related macular degeneration.
Investigative ophthalmology & visual science 2006;47(12):5453-9.
2005: Darryl Y Nishimura; Ruth E Swiderski; Charles C Searby; Erik M Berg; Amanda L Ferguson; Raoul Hennekam; Saul Merin; Richard G Weleber; Leslie G Biesecker; Edwin M Stone; Val C Sheffield
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
American journal of human genetics 2005;77(6):1021-33.
2005: Richard G Weleber
A network of patients with orphan retinal diseases for clinical trials: goals, structure, challenges.
Retina (Philadelphia, Pa.) 2005;25(8 Suppl):S66-S67.
2005: Richard G Weleber
Inherited and orphan retinal diseases: phenotypes, genotypes, and probable treatment groups.
Retina (Philadelphia, Pa.) 2005;25(8 Suppl):S4-S7.
2005: Gerald A Fishman; Samuel G Jacobson; Kenneth R Alexander; Artur Vahe Cideciyan; David G Birch; Richard G Weleber; Donald C Hood
Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective.
Retina (Philadelphia, Pa.) 2005;25(6):772-7.
2005: Peter J Francis; Dennis W Schultz; A M Gregory; Mitchell Schain; R Barra; Jacek Majewski; Jurg Ott; Ted S Acott; Richard G Weleber; Michael L Klein
Genetic and phenotypic heterogeneity in pattern dystrophy.
The British journal of ophthalmology 2005;89(9):1115-9.
2005: Melanie B Gillingham; Richard G Weleber; Martha Neuringer; William E Connor; Monte Mills; Sandra C Van Calcar; James Ver Hoeve; Jon Wolff; Cary O Harding
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.
Molecular genetics and metabolism 2005;86(1-2):124-33.
2005: Peter J Francis; Gerald A Fishman; Karmen M Trzupek; Ian M MacDonald; Edwin M Stone; Richard G Weleber
Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
Archives of ophthalmology 2005;123(8):1146-9.
2005: Robert A Egan; Richard G Weleber; Penelope Hogarth; Allison Gregory; Jason Coryell; Shawn K Westaway; Jane Gitschier; Soma Das; Susan J Hayflick
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
American journal of ophthalmology 2005;140(2):267-74.
2005: Dennis W Schultz; Richard G Weleber; Gus Lawrence; Sandra Barral; Jacek Majewski; Ted S Acott; Michael L Klein
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective.
Ophthalmic genetics 2005;26(2):101-5.
2005: Richard G Weleber; Robert A Egan; John R Heckenlively; William T Shults; Karmen M Trzupek; Robert C Watzke; Grazyna Adamus
Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies.
American journal of ophthalmology 2005;139(5):780-94.
2005: Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Ágnes Farkas; sten andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Hélène Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
European journal of human genetics : EJHG 2005;13(3):302-8.
2005: Roberto P Anitori; Kara Manning; Franklin Quan; Richard G Weleber; Neil R M Buist; Eric A Shoubridge; Nancy G Kennaway
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.
Molecular genetics and metabolism 2005;84(2):176-88.
2004: Kean T Oh; Richard G Weleber; Edwin M Stone; Dawn M Oh; Justin Rosenow; Andrea M Billingslea
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
Retina (Philadelphia, Pa.) 2004;24(6):920-8.
2004: Kean T Oh; Dawn M Oh; Richard G Weleber; Edwin M Stone; A Parikh; J White; K A Deboer-Shields; Luan M Streb; C Vallar
Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
The British journal of ophthalmology 2004;88(12):1533-7.
2004: Rodney K Beals; Richard G Weleber
Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia.
American journal of medical genetics. Part A 2004;131(1):67-70.
2004: Richard G Weleber; Nisha Gupta; Karmen M Trzupek; Meredith S Wepner; Daryl E Kurz; Ann H Milam
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
Molecular genetics and metabolism 2004;83(1-2):128-37.
2004: raj maturi; Minzhong Yu; Richard G Weleber
Multifocal electroretinographic evaluation of long-term hydroxychloroquine users.
Archives of ophthalmology 2004;122(7):973-81.
2004: Anren Li; Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Wenliang Yao; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; Muh Shy Chen; Richard Alan Lewis; John R Heckenlively; Richard G Weleber; Elias Traboulsi; Qingjiong Zhang; Xueshan Xiao; Muriel I Kaiser-Kupfer; Yuri V Sergeev; J Fielding Hejtmancik
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
American journal of human genetics 2004;74(5):817-26.
2004: Kean T Oh; Richard G Weleber; Dawn M Oh; Andrea M Billingslea; Justin Rosenow; Edwin M Stone
Clinical phenotype as a prognostic factor in Stargardt disease.
Retina (Philadelphia, Pa.) 2004;24(2):254-62.
2004: Grazyna Adamus; Gaoying Ren; Richard G Weleber
Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy.
BMC ophthalmology 2004;4():5.
2003: Dennis W Schultz; Michael L Klein; Andrea J Humpert; Christina W Luzier; Vesna Persun; Mitchell Schain; Alison Mahan; Charles Runckel; Maria Cassera; Vasavi Vittal; Trudy M Doyle; Tammy M Martin; Richard G Weleber; Peter J Francis; Ted S Acott
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
Human molecular genetics 2003;12(24):3315-23.
2003: Richard G Weleber; Daryl E Kurz; Karmen M Trzupek
Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy.
Ophthalmology clinics of North America 2003;16(4):583-93, vii.
2003: Jacek Majewski; Dennis W Schultz; Richard G Weleber; Mitchell B Schain; Albert O Edwards; Tara C Matise; Ted S Acott; Jurg Ott; Michael L Klein
Age-related macular degeneration--a genome scan in extended families.
American journal of human genetics 2003;73(3):540-50.
2003: Thomas K M Lee; Kerry E McTaggart; Paul Sieving; John R Heckenlively; Alex V Levin; Jacquie Greenberg; Richard G Weleber; Patrick Y Tong; Edward F Anhalt; Berkley R Powell; Ian M MacDonald
Clinical diagnoses that overlap with choroideremia.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2003;38(5):364-72; quiz 372.
2003: Kean T Oh; Reid Longmuir; Dawn M Oh; Edwin M Stone; Kelly Kopp; Jeremiah Brown; Gerald A Fishman; Peter Sonkin; karen gehrs; Richard G Weleber
Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.
American journal of ophthalmology 2003;136(2):306-13.
2003: Dennis W Schultz; Michael L Klein; Andrea Humpert; Jacek Majewski; Mitchell Schain; Richard G Weleber; Jurg Ott; Ted S Acott
Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration.
Archives of ophthalmology 2003;121(5):679-83.
2003: Kirk Mykytyn; Darryl Y Nishimura; Charles C Searby; Gretel Beck; Kevin Bugge; Heidi L Haines; Alberto S Cornier; Gerald F Cox; Anne B Fulton; Rivka Carmi; Alessandro Iannaccone; Samuel G Jacobson; Richard G Weleber; Alan F Wright; Ruth Riise; Raoul Hennekam; Güven Lüleci; Sibel Berker-Karauzum; Leslie G Biesecker; Edwin M Stone; Val C Sheffield
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
American journal of human genetics 2003;72(2):429-37.
2002: Kirk Mykytyn; Darryl Y Nishimura; Charles C Searby; Mythreyi Shastri; Hsan-jan Yen; John S Beck; Terry Braun; Luan M Streb; Alberto S Cornier; Gerald F Cox; Anne B Fulton; Rivka Carmi; Güven Lüleci; Settara C Chandrasekharappa; Francis S Collins; Samuel G Jacobson; John R Heckenlively; Richard G Weleber; Edwin M Stone; Val C Sheffield
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nature genetics 2002;31(4):435-8.
2002: Richard G Weleber
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).
Ophthalmic genetics 2002;23(2):71-97.
2002: M Flynn Roberts; Gerald A Fishman; Daniel Kent Roberts; John R Heckenlively; Richard G Weleber; Robert J Anderson; Sandeep Grover
Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia.
The British journal of ophthalmology 2002;86(6):658-62.
2002: Shan M Pradhan; La-ongsri Atchaneeyasakul; Binoy Appukuttan; Robert N Mixon; Trevor J McFarland; Andrea M Billingslea; David J Wilson; J Timothy Stout; Richard G Weleber
Electronegative electroretinogram in mucolipidosis IV.
Archives of ophthalmology 2002;120(1):45-50.
2001: Emma E Tarttelin; Cheryl Y Gregory-Evans; Alan C Bird; Richard G Weleber; Michael L Klein; J Blackburn; Kevin Gregory-Evans
Molecular genetic heterogeneity in autosomal dominant drusen.
Journal of medical genetics 2001;38(6):381-4.
2001: AR Webster; Elise Héon; Andrew J Lotery; K Vandenburgh; Thomas L Casavant; Kean T Oh; G Beck; Gerald A Fishman; Byron Lam; A Levin; John R Heckenlively; Samuel G Jacobson; Richard G Weleber; Val C Sheffield; Edwin M Stone
An analysis of allelic variation in the ABCA4 gene.
Investigative ophthalmology & visual science 2001;42(6):1179-89.
2001: Larry A Donoso; Arcilee T Frost; E M Stone; Richard G Weleber; Ian M MacDonald; Gregory Hageman; GW Cibis; Robert Ritter; Albert O Edwards
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity.
Archives of ophthalmology 2001;119(4):564-70.
2001: Andrew J Lotery; Samuel G Jacobson; Gerald A Fishman; Richard G Weleber; Anne B Fulton; P Namperumalsamy; Elise Héon; A V Levin; Sandeep Grover; Justin Rosenow; K K Kopp; Val C Sheffield; Edwin M Stone
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Archives of ophthalmology 2001;119(3):415-20.
2001: Kym M Boycott; TA Maybaum; MJ Naylor; Richard G Weleber; J Robitaille; Y Miyake; A A Bergen; M E Pierpont; WG Pearce; N Torben Bech-Hansen
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
Human genetics 2001;108(2):91-7.
2001: M V Brinks; WH Murphey; W Cardwell; M Otos; Richard G Weleber
Ophthalmologic screening of deaf students in Oregon.
Journal of pediatric ophthalmology and strabismus 2001;38(1):11-5.
2000: Ann H Milam; Christine A Curcio; Artur Vahe Cideciyan; S Saxena; Sinoj K John; Howard S Kruth; Goldis Malek; John R Heckenlively; Richard G Weleber; Samuel G Jacobson
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.
Ophthalmology 2000;107(12):2256-66.
2000: N Torben Bech-Hansen; MJ Naylor; TA Maybaum; Rebecca Sparkes; B Koop; David G Birch; A A Bergen; Clemens F M Prinsen; R C Polomeno; A Gal; A V Drack; Maria A Musarella; Samuel G Jacobson; R S Young; Richard G Weleber
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
Nature genetics 2000;26(3):319-23.
2000: Akira Kobayashi; Tomomi Higashide; Duco Hamasaki; Shinya Kubota; H Sakuma; W An; T Fujimaki; Margaret J McLaren; Richard G Weleber; George Inana
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.
Investigative ophthalmology & visual science 2000;41(11):3268-77.
2000: Kean T Oh; Richard G Weleber; Andrew J Lotery; Dawn M Oh; Andrea M Billingslea; Edwin M Stone
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.
Archives of ophthalmology 2000;118(9):1269-76.
2000: Samuel G Jacobson; Artur Vahe Cideciyan; Alessandro Iannaccone; Richard G Weleber; Gerald A Fishman; Albert M Maguire; Louisa M Affatigato; Jean Bennett; Eric A Pierce; Michael Danciger; Debora B Farber; Edwin M Stone
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2000;41(7):1898-908.
2000: Andrew J Lotery; Francis L Munier; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Louisa M Affatigato; BE Nichols; Daniel F Schorderet; Val C Sheffield; Edwin M Stone
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Investigative ophthalmology & visual science 2000;41(6):1291-6.
2000: Andrew J Lotery; P Namperumalsamy; Samuel G Jacobson; Richard G Weleber; Gerald A Fishman; Maria A Musarella; C S Hoyt; Elise Héon; A Levin; J Jan; Byron Lam; R E Carr; A Franklin; S Radha; Jean Andorf; Val C Sheffield; Edwin M Stone
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Archives of ophthalmology 2000;118(4):538-43.
2000: Petra Jakobs; John F Hess; Paul G FitzGerald; Patricia L Kramer; Richard G Weleber; Michael Litt
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
American journal of human genetics 2000;66(4):1432-6.
2000: Neena B Haider; Samuel G Jacobson; Artur Vahe Cideciyan; Ruth E Swiderski; Luan M Streb; Charles C Searby; Gretel Beck; RR Hockey; D B Hanna; S Gorman; David Duhl; Rivka Carmi; J Bennett; Richard G Weleber; Gerald A Fishman; Alan F Wright; Edwin M Stone; Val C Sheffield
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Nature genetics 2000;24(2):127-31.
2000: Patricia L Kramer; DM LaMorticella; Karla Schilling; Andrea M Billingslea; Richard G Weleber; M Litt
A new locus for autosomal dominant congenital cataracts maps to chromosome 3.
Investigative ophthalmology & visual science 2000;41(1):36-9.
1999: Y G Mashima; Richard G Weleber; Nancy G Kennaway; George Inana
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
Ophthalmic genetics 1999;20(4):219-24.
1999: Sandeep Grover; Gerald A Fishman; Robert J Anderson; M S Tozatti; John R Heckenlively; Richard G Weleber; Albert O Edwards; J Brown
Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older.
Ophthalmology 1999;106(9):1780-5.
1999: De-Ann M Pillers; Kathleen Gustafson; Nancy M Duncan; SM Rash; RA White; Shannon J Dwinnell; Berkley R Powell; RE Schnur; Peter N Ray; GW Cibis; Richard G Weleber
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.
Human genetics 1999;105(1-2):2-9.
1999: Yong-Qing Gao; Michael Danciger; R Longmuir; Natik I Piriev; D Y Zhao; John R Heckenlively; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Edwin M Stone; Debora B Farber
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.
Investigative ophthalmology & visual science 1999;40(8):1818-22.
1999: Albert O Edwards; AI Miedziak; Tamara R Vrabec; J Verhoeven; Ted S Acott; Richard G Weleber; Larry A Donoso
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.
American journal of ophthalmology 1999;127(4):426-35.
1999: De-Ann M Pillers; Richard G Weleber; Daniel G Green; SM Rash; Ghassan Y Dally; PL Howard; Michael R Powers; D C Hood; Verne M Chapman; Peter N Ray; William R Woodward
Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants.
Molecular genetics and metabolism 1999;66(2):100-10.
1999: Kelaginamane T Hiriyanna; Eve L Bingham; Beverly M Yashar; Radha Ayyagari; Gerald A Fishman; Kent W Small; David V Weinberg; Richard G Weleber; R A Lewis; sten andreasson; Julia E Richards; Paul Sieving
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
Human mutation 1999;14(5):423-7.
1998: La-ongsri Atchaneeyasakul; Leesa M Linck; William E Connor; Richard G Weleber; Robert D Steiner
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1998;80(5):501-5.
1998: Yong-Qing Gao; Michael Danciger; Novrouz B Akhmedov; D Y Zhao; John R Heckenlively; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Debora B Farber
Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.
Molecular vision 1998;4():16.
1998: Albert O Edwards; Michael L Klein; C B Berselli; J Fielding Hejtmancik; Kristal Rust; Mary K Wirtz; Richard G Weleber; Ted S Acott
Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
American journal of ophthalmology 1998;126(3):417-24.
1998: PL Howard; Ghassan Y Dally; M H Wong; A Ho; Richard G Weleber; De-Ann M Pillers; Peter N Ray
Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina.
Human molecular genetics 1998;7(9):1385-91.
1998: Michael L Klein; Dennis W Schultz; A Edwards; Tara C Matise; Kristal Rust; C B Berselli; Karmen M Trzupek; Richard G Weleber; Jurg Ott; Mary K Wirtz; Ted S Acott
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.
Archives of ophthalmology 1998;116(8):1082-8.
1998: Kym M Boycott; WG Pearce; Maria A Musarella; Richard G Weleber; TA Maybaum; David G Birch; Y Miyake; R S Young; N Torben Bech-Hansen
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.
American journal of human genetics 1998;62(4):865-75.
1998: RE Schnur; M Gao; P A Wick; M Keller; P J Benke; M J Edwards; A W Grix; A Hockey; J H Jung; K K Kidd; M Kistenmacher; A V Levin; R A Lewis; Maria A Musarella; R W Nowakowski; S J Orlow; R S Pagon; De-Ann M Pillers; H H Punnett; G E Quinn; K Tezcan; J Wagstaff; Richard G Weleber
OA1 mutations and deletions in X-linked ocular albinism.
American journal of human genetics 1998;62(4):800-9.
1998: La-ongsri Atchaneeyasakul; Leesa M Linck; Richard G Weleber
Microcephaly with chorioretinal degeneration.
Ophthalmic genetics 1998;19(1):39-48.
1998: M Litt; Patricia L Kramer; DM LaMorticella; WH Murphey; E W Lovrien; Richard G Weleber
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
Human molecular genetics 1998;7(3):471-4.
1998: Richard G Weleber
The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses.
Eye (London, England) 1998;12 ( Pt 3b)():580-90.
1997: William E Connor; Richard G Weleber; C DeFrancesco; Don S Lin; Don P Wolf
Sperm abnormalities in retinitis pigmentosa.
Investigative ophthalmology & visual science 1997;38(12):2619-28.
1997: Richard G Weleber; N S Butler; WH Murphey; V C Sheffield; E M Stone
X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.
Archives of ophthalmology 1997;115(11):1429-35.
1997: Kevin Gregory-Evans; Richard G Weleber
An eye for an eye: new models of genetic ocular disease.
Nature biotechnology 1997;15(10):947-8.
1997: Janice A Vranka; Elaine C Johnson; X Zhu; A Shepardson; J Preston Alexander; john bradley; Mary K Wirtz; Richard G Weleber; Michael L Klein; Ted S Acott
Discrete expression and distribution pattern of TIMP-3 in the human retina and choroid.
Current eye research 1997;16(2):102-10.
1997: Ulrich Kellner; Richard G Weleber; Nancy G Kennaway; Gerald A Fishman; Michael H Foerster
Gyrate atrophy-like phenotype with normal plasma ornithine.
Retina (Philadelphia, Pa.) 1997;17(5):403-13.
1997: Richard A Spritz; ST Lee; K Fukai; karen brondum-nielsen; D Chitayat; M H Lipson; Maria A Musarella; A Rosenmann; Richard G Weleber
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Human mutation 1997;10(2):175-7.
1997: Richard A Spritz; J Oh; K Fukai; S A Holmes; L Ho; D Chitayat; T D France; Maria A Musarella; S J Orlow; RE Schnur; Richard G Weleber; A V Levin
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
Human mutation 1997;10(2):171-4.
1996: ROQUE CARRERO-VALENZUELA; Michael L Klein; Richard G Weleber; W H Murphey; M Litt
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.
Archives of ophthalmology 1996;114(6):737-8.
1996: Richard G Weleber
The Cuban experience. False hope for a cure for retinitis pigmentosa.
Archives of ophthalmology 1996;114(5):606-7.
1995: Ted S Acott; Richard G Weleber
Vitamin A megatherapy for retinal abnormalities.
Nature medicine 1995;1(9):884-5.
1995: H Sakuma; George Inana; A Murakami; T Yajima; Richard G Weleber; W H Murphey; J D Gass; Y Hotta; M Hayakawa; K Fujiki
A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.
Genomics 1995;27(2):384-6.
1995: De-Ann M Pillers; Richard G Weleber; William R Woodward; Daniel G Green; Verne M Chapman; Peter N Ray
mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy.
Investigative ophthalmology & visual science 1995;36(2):462-6.
1995: K Fukai; S A Holmes; N J Lucchese; V M Siu; Richard G Weleber; Rhonda E Schnur; Richard A Spritz
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
Nature genetics 1995;9(1):92-5.
1994: Rhonda E Schnur; P A Wick; C Bailey; Timothy R Rebbeck; Richard G Weleber; J Wagstaff; A W Grix; R A Pagon; A Hockey; M J Edwards
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.
American journal of human genetics 1994;55(3):484-96.
1994: Richard G Weleber
Stargardt's macular dystrophy.
Archives of ophthalmology 1994;112(6):752-4.
1994: D A Sigesmund; Richard G Weleber; De-Ann M Pillers; Carol A Westall; Carole M Panton; B R Powell; E Héon; W H Murphey; Maria A Musarella; Peter N Ray
Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy.
Ophthalmology 1994;101(5):856-65.
1994: Gerald A Fishman; L D Gilbert; Robert J Anderson; M F Marmor; Richard G Weleber; Marlos Viana
Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa.
Ophthalmology 1994;101(4):687-93.
1993: De-Ann M Pillers; W K Seltzer; B R Powell; Peter N Ray; F Tremblay; G R La Roche; R A Lewis; Edward RB McCabe; A W Eriksson; Richard G Weleber
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Archives of ophthalmology 1993;111(11):1558-63.
1993: Richard G Weleber; R E Carr; W H Murphey; V C Sheffield; E M Stone
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.
Archives of ophthalmology 1993;111(11):1531-42.
1993: De-Ann M Pillers; D E Bulman; Richard G Weleber; D A Sigesmund; Maria A Musarella; B R Powell; W H Murphey; Carol A Westall; Carole M Panton; L E Becker
Dystrophin expression in the human retina is required for normal function as defined by electroretinography.
Nature genetics 1993;4(1):82-6.
1992: Y Mashima; Richard G Weleber; N G Kennaway; George Inana
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
Human genetics 1992;90(3):305-7.
1992: R K Tripathi; K M Strunk; L B Giebel; Richard G Weleber; Richard A Spritz
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
American journal of medical genetics 1992;43(5):865-71.
1992: Y Mashima; A Murakami; Richard G Weleber; N G Kennaway; L Clarke; T Shiono; George Inana
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.
American journal of human genetics 1992;51(1):81-91.
1992: Y Akaki; Y Hotta; Y Mashima; A Murakami; N G Kennaway; Richard G Weleber; George Inana
A deletion in the ornithine aminotransferase gene in gyrate atrophy.
The Journal of biological chemistry 1992;267(18):12950-4.
1992: Richard G Weleber; Y Miyake
Familial optic atrophy with negative electroretinograms.
Archives of ophthalmology 1992;110(5):640-5.
1991: Richard G Weleber; Earl A Palmer
Electrophysiological evaluation of children with visual impairment.
Seminars in ophthalmology 1991;6(4):161-8.
1991: Richard G Weleber; W H Murphey
Molecular advances in retinitis pigmentosa.
The Western journal of medicine 1991;155(4):423-4.
1991: David J Wilson; Richard G Weleber; W Richard Green
Ocular clinicopathologic study of gyrate atrophy.
American journal of ophthalmology 1991;111(1):24-33.
1991: George Inana; Y Hotta; C Zintz; C Chambers; N G Kennaway; Richard G Weleber; A Nakajima; T Shiono
Molecular basis of ornithine aminotransferase defect in gyrate atrophy.
Progress in clinical and biological research 1991;362():191-219.
1990: Michael F Marmor; S G Jacobson; M H Foerster; U Kellner; Richard G Weleber
Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.
American journal of ophthalmology 1990;110(2):124-34.
1990: De-Ann M Pillers; Richard G Weleber; B R Powell; Cheryl E Hanna; R Ellen Magenis; N R Buist
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.
American journal of medical genetics 1990;36(1):23-8.
1990: M Godfrey; Victor Menashe; Richard G Weleber; R D Koler; R H Bigley; E Lovrien; Jonathan (Jon) Zonana; D W Hollister
Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families.
American journal of human genetics 1990;46(4):652-60.
1990: J G Flannery; Alan C Bird; Debora B Farber; Richard G Weleber; Dean Bok
A histopathologic study of a choroideremia carrier.
Investigative ophthalmology & visual science 1990;31(2):229-36.
1989: Maria A Musarella; Richard G Weleber; W H Murphey; R S Young; L Anson-Cartwright; M Mets; Stephen P Kraft; R Polemeno; M Litt; R G Worton
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.
Genomics 1989;5(4):727-37.
1989: Jeremy Nathans; C M Davenport; Irene H Maumenee; R A Lewis; J F Hejtmancik; M Litt; E Lovrien; Richard G Weleber; B Bachynski; Fred Zwas
Molecular genetics of human blue cone monochromacy.
Science (New York, N.Y.) 1989;245(4920):831-8.
1989: Richard G Weleber; De-Ann M Pillers; B R Powell; Cheryl E Hanna; R Ellen Magenis; N R Buist
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
Archives of ophthalmology 1989;107(8):1170-9.
1989: Richard G Weleber
Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa.
Archives of ophthalmology 1989;107(4):530-7.
1989: Y Hotta; N G Kennaway; Richard G Weleber; George Inana
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.
American journal of human genetics 1989;44(3):353-7.
1989: N G Kennaway; L Stankova; Mary K Wirtz; Richard G Weleber
Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.
American journal of human genetics 1989;44(3):344-52.
1989: David J Wilson; Richard G Weleber; Michael L Klein; ROBERT WELCH; W Richard Green
Bietti's crystalline dystrophy. A clinicopathologic correlative study.
Archives of ophthalmology 1989;107(2):213-21.
1989: George Inana; Y Hotta; C Zintz; A Nakajima; T Shiono; N G Kennaway; Richard G Weleber
Molecular genetics of ornithine aminotransferase defect in gyrate atrophy.
Progress in clinical and biological research 1989;314():99-111.
1988: V D Stoumbos; Richard G Weleber; N G Kennaway
Normal alpha-L-fucosidase and other lysosomal enzyme activities in progressive cone dystrophy.
American journal of ophthalmology 1988;106(1):11-6.
1988: George Inana; Y Hotta; C Zintz; K Takki; Richard G Weleber; N G Kennaway; K Nakayasu; A Nakajima; T Shiono
Expression defect of ornithine aminotransferase gene in gyrate atrophy.
Investigative ophthalmology & visual science 1988;29(7):1001-5.
1988: George C Brainard; Alfred J Lewy; M Menaker; R H Fredrickson; L S Miller; Richard G Weleber; V Cassone; D Hudson
Dose-response relationship between light irradiance and the suppression of plasma melatonin in human volunteers.
Brain research 1988;454(1-2):212-8.
1988: J C Gretzula; O Hevia; L S Schachner; J H DiLiberti; R H Ruvalcaba; J R Schimschock; Richard G Weleber; F Halal; M H Lipson; B Blumberg
Ruvalcaba-Myhre-Smith syndrome.
Pediatric dermatology 1988;5(1):28-32.
1988: R Ellen Magenis; R R Sheehy; M G Brown; H E McDermid; Bradley N White; Jonathan (Jon) Zonana; Richard G Weleber
Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
American journal of medical genetics 1988;29(1):9-19.
1987: David J Wilson; Richard G Weleber; R K Beals
Retinal dystrophy in Jeune's syndrome.
Archives of ophthalmology 1987;105(5):651-7.
1987: Richard G Weleber; A C Tongue
Congenital stationary night blindness presenting as Leber's congenital amaurosis.
Archives of ophthalmology 1987;105(3):360-5.
1987: J D Gass; Richard G Weleber; D R Johnson
Non-Hodgkin's lymphoma causing fundus picture simulating fundus flavimaculatus.
Retina (Philadelphia, Pa.) 1987;7(4):209-14.
1986: R H Millay; Richard G Weleber; John R Heckenlively
Ophthalmologic and systemic manifestations of Alström's disease.
American journal of ophthalmology 1986;102(4):482-90.
1986: John R Heckenlively; Richard G Weleber
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon.
Archives of ophthalmology 1986;104(9):1322-8.
1986: Richard G Weleber; S T Denman; Jon M Hanifin; W J Cunningham
Abnormal retinal function associated with isotretinoin therapy for acne.
Archives of ophthalmology 1986;104(6):831-7.
1986: Richard G Weleber; W R Tobler
Computerized quantitative analysis of kinetic visual fields.
American journal of ophthalmology 1986;101(4):461-8.
1986: S Denman; Richard G Weleber; Jon M Hanifin; W Cunningham; R Phipps
Abnormal night vision and altered dark adaptometry in patients treated with isotretinoin for acne.
Journal of the American Academy of Dermatology 1986;14(4):692-3.
1986: Sarojini S Budden; N G Kennaway; N R Buist; A Poulos; Richard G Weleber
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
The Journal of pediatrics 1986;108(1):33-9.
1985: Jacob A. Reiss; Richard G Weleber; M G Brown; C D Bangs; E W Lovrien; R Ellen Magenis
Tandem duplication of proximal 22q: a cause of cat-eye syndrome.
American journal of medical genetics 1985;20(1):165-71.
1985: Mary K Wirtz; N G Kennaway; Richard G Weleber
Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.
Journal of inherited metabolic disease 1985;8(2):71-4.
1984: Richard G Weleber; A C Tongue; N G Kennaway; Sarojini S Budden; N R Buist
Ophthalmic manifestations of infantile phytanic acid storage disease.
Archives of ophthalmology 1984;102(9):1317-21.
1984: Richard G Weleber; R Ellen Magenis
The importance of chromosomal studies in ophthalmology.
International ophthalmology clinics 1984;24(1):15-38.
1983: Richard G Weleber; Jonathan (Jon) Zonana
Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis.
American journal of ophthalmology 1983;96(6):740-3.
1983: J H DiLiberti; Richard G Weleber; Sarojini S Budden
Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations.
American journal of medical genetics 1983;15(3):491-5.
1982: Richard G Weleber; Mary K Wirtz; N G Kennaway
Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6.
Birth defects original article series 1982;18(6):219-30.
1981: Richard G Weleber; W T Shults
Digoxin retinal toxicity. Clinical and electrophysiological evaluation of a cone dysfunction syndrome.
Archives of ophthalmology 1981;99(9):1568-72.
1981: Richard G Weleber; N G Kennaway; N R Buist
Gyrate atrophy of the choroid and retina. Approaches to therapy.
International ophthalmology 1981;4(1-2):23-32.
1981: Richard G Weleber; N G Kennaway
Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina.
Ophthalmology 1981;88(4):316-24.
1981: Richard G Weleber
The effect of age on human cone and rod ganzfeld electroretinograms.
Investigative ophthalmology & visual science 1981;20(3):392-9.
1980: N G Kennaway; Richard G Weleber; N R Buist
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
American journal of human genetics 1980;32(4):529-41.
1978: Richard G Weleber; N G Kennaway; N R Buist
Vitamin B6 in management of gyrate atrophy of choroid and retina.
Lancet 1978;2(8101):1213.
1978: R Spiro; Richard G Weleber; W Kimberling
Serum IgM in retinitis pigmentosa: a genetic study.
Clinical genetics 1978;13(3):295-304.
1978: Richard G Weleber; E W Lovrien; J B Isom
Aicardi's syndrome. Case report, clinical features, and electrophysiologic studies.
Archives of ophthalmology 1978;96(2):285-90.
1977: N G Kennaway; Richard G Weleber; N R Buist
Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts.
The New England journal of medicine 1977;297(21):1180.
1977: J Walknowska; D Peakman; Richard G Weleber
Cytogenetic investigation of cat-eye syndrome.
American journal of ophthalmology 1977;84(4):477-86.
1976: Richard G Weleber; R S Verma; W J Kimberling; H G Fieger; H A lubs
Duplication-deficiency of the short arm of chromosome 8 following artificial insemination.
Annales de génétique 1976;19(4):241-7.
1976: Richard G Weleber
Chronic severe periobital edema.
JAMA : the journal of the American Medical Association 1976;236(9):1013.
1976: Richard G Weleber; R K Beals
The Hajdu-Cheney syndrome. Report of two cases and review of the literature.
The Journal of pediatrics 1976;88(2):243-9.
1972: R Ellen Magenis; S Armendares; F Hecht; Richard G Weleber; K Overton
Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46, XX, 22r) G deletion syndrome II.
Annales de génétique 1972;15(4):265.
1968: Richard G Weleber; F Hecht; E R Giblett
Ring-G chromosome, a new G-deletion syndrome?
American journal of diseases of children (1960) 1968;115(4):489-93.
1967: F Hecht; Richard G Weleber; E R Giblett
Chromosome anomalies.
Lancet 1967;1(7494):848.