Richard Weleber

Professor

  • 10890 Citations
  • 56 h-Index
1963 …2019
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  • 21 Similar Profiles
Mutation Medicine & Life Sciences
Retinitis Pigmentosa Medicine & Life Sciences
Gyrate Atrophy Medicine & Life Sciences
Genes Medicine & Life Sciences
Macular Degeneration Medicine & Life Sciences
Leber Congenital Amaurosis Medicine & Life Sciences
Retina Medicine & Life Sciences
Ornithine-Oxo-Acid Transaminase Medicine & Life Sciences

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Research Output 1963 2019

  • 10890 Citations
  • 56 h-Index
  • 248 Article
  • 2 Chapter
  • 1 Review article

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

Chung, D. C., Bertelsen, M., Lorenz, B., Pennesi, M., Leroy, B. P., Hamel, C. P., Pierce, E., Sallum, J., Larsen, M., Stieger, K., Preising, M., Weleber, R., Yang, P., Place, E., Liu, E., Schaefer, G., DiStefano-Pappas, J., Elci, O. U., McCague, S., Wellman, J. A. & 2 othersHigh, K. A. & Reape, K. Z., Mar 1 2019, In : American Journal of Ophthalmology. 199, p. 58-70 13 p.

Research output: Contribution to journalArticle

Retinal Dystrophies
Visual Fields
Natural History
Mutation
Genes

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

Burkard, M., Kohl, S., Krätzig, T., Tanimoto, N., Brennenstuhl, C., Bausch, A. E., Junger, K., Reuter, P., Sothilingam, V., Beck, S. C., Huber, G., Ding, X. Q., Mayer, A. K., Baumann, B., Weisschuh, N., Zobor, D., Hahn, G. A., Kellner, U., Venturelli, S., Becirovic, E. & 14 othersIssa, P. C., Koenekoop, R. K., Rudolph, G., Heckenlively, J., Sieving, P., Weleber, R., Hamel, C., Zong, X., Biel, M., Lukowski, R., Seeliger, M. W., Michalakis, S., Wissinger, B. & Ruth, P., Dec 3 2018, In : Journal of Clinical Investigation. 128, 12, p. 5663-5675 13 p.

Research output: Contribution to journalArticle

Retinal Cone Photoreceptor Cells
Color Vision Defects
Mutation
Phenotype
Alleles

A cross-sectional and longitudinal study of retinal sensitivity in RPE65-associated leber congenital amaurosis

Kumaran, N., Rubin, G. S., Kalitzeos, A., Fujinami, K., Bainbridge, J. W. B., Weleber, R. & Michaelides, M., Jul 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 8, p. 3330-3339 10 p.

Research output: Contribution to journalArticle

Leber Congenital Amaurosis
Visual Fields
Longitudinal Studies
Cross-Sectional Studies
Contrast Sensitivity
3 Citations (Scopus)

Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning

Wang, Z., Camino, A., Hagag, A. M., Wang, J., Weleber, R., Yang, P., Pennesi, M., Huang, D., Li, D. & Yali, J., Jan 1 2018, (Accepted/In press) In : Journal of Biophotonics.

Research output: Contribution to journalArticle

Choroideremia
photoreceptors
Retinal Degeneration
machine learning
degeneration
1 Citations (Scopus)

Characterization of visual function, interocular variability and progression using static perimetry-derived metrics in RPGR-associated retinopathy

Tee, J. J. L., Yang, Y., Kalitzeos, A., Webster, A., Bainbridge, J., Weleber, R. & Michaelides, M., May 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 6, p. 2422-2436 15 p.

Research output: Contribution to journalArticle

Visual Field Tests
Retinitis Pigmentosa
GTP Phosphohydrolases
Octopodiformes
Regulator Genes