Richard G. Weleber

Research.com Recognitions

• 2016 - The Llura Liggett Gund Award, Foundation Fighting Blindness for career achievement in the field of retinal-disease therapies.

Overview

Best Publications

• Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

  James W B Bainbridge;James W B Bainbridge;Manjit S Mehat;Venki Sundaram;Scott J Robbie

  789
  Citations

• Autosomal Dominant Congenital Cataract Associated with a Missense Mutation in the Human Alpha Crystallin Gene CRYAA

  Michael Litt;Patricia Kramer;Dante M. LaMorticella;William Murphey

  630
  Citations

• Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

  Neena B. Haider;Samuel G. Jacobson;Artur V. Cideciyan;Ruth Swiderski

  527
  Citations

• Evaluation of Grid Pattern Photocoagulation for Macular Edema in Central Vein Occlusion: The Central Vein Occlusion Study Group M Report

  John G. Clarkson;Elaine Chuang;Donald Gass;Maria Pedroso

  458
  Citations

• 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

  Richard G. Weleber;Ronald E. Carr;Ronald E. Carr;Ronald E. Carr;William H. Murphey;Val C. Sheffield

  435
  Citations

• Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

  Kirk Mykytyn;Darryl Y. Nishimura;Charles C. Searby;Mythreyi Shastri

  429
  Citations

• Molecular Genetics of Human Blue Cone Monochromacy

  Jeremy Nathans;Carol M. Davenport;Irene H. Maumenee;Richard Alan Lewis

  408
  Citations

• Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

  N.Torben Bech-Hansen;Margaret J. Naylor;Tracy A. Maybaum;Rebecca L. Sparkes

  400
  Citations

• Dose-response relationship between light irradiance and the suppression of plasma melatonin in human volunteers.

  George C. Brainard;Alfred J. Lewy;Michael Menaker;Richard H. Fredrickson

  348
  Citations

• Age-related macular degeneration: Clinical features in a large family and linkage to chromosome 1q

  Michael L. Klein;Dennis W. Schultz;Al Edwards;Tara C. Matise

  316
  Citations

• Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

  Darryl Y. Nishimura;Ruth E. Swiderski;Charles C. Searby;Erik M. Berg

  290
  Citations

• Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

  Neruban Kumaran;Anthony T Moore;Richard G Weleber;Michel Michaelides;Michel Michaelides;Michel Michaelides

  288
  Citations

• Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

  Anren Li;Xiaodong Jiao;Francis L. Munier;Daniel F. Schorderet

  279
  Citations

• Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis

  Andrew J. Lotery;Samuel G. Jacobson;Gerald A. Fishman;Richard G. Weleber

  276
  Citations

• CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

  Susanne Kohl;Balazs Varsanyi;Balazs Varsanyi;Gesine Abadin Antunes;Britta Baumann

  268
  Citations

• Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

  William J Kimberling;William J Kimberling;Michael S Hildebrand;A Eliot Shearer;Maren L Jensen

  264
  Citations

• Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy

  Grazyna Adamus;Gaoying Ren;Richard G Weleber

  259
  Citations

• Age-Related Macular Degeneration—a Genome Scan in Extended Families

  Jacek Majewski;Dennis W. Schultz;Richard G. Weleber;Mitchell B. Schain

  255
  Citations

• Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.

  Petra M. Jakobs;John F. Hess;Paul G. FitzGerald;Patricia Kramer

  237
  Citations

• Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family

  Dennis W. Schultz;Michael L. Klein;Andrea J. Humpert;Christina W. Luzier

  234
  Citations