Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 15 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
Retina Medicine & Life Sciences
Ornithine-Oxo-Acid Transaminase Medicine & Life Sciences
Electroretinography Medicine & Life Sciences

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Research Output 1963 2018

  • 9875 Citations
  • 53 h-Index
  • 235 Article
  • 2 Chapter
  • 1 Review article

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. G., Yang, P., Pennesi, M. E., Huang, D., Li, D. & Jia, Y. Jan 1 2018 (Accepted/In press) In : Journal of Biophotonics.

Research output: Contribution to journalArticle

Retinal Degeneration
machine learning

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2

Lockhart, C. M., Smith, T. B., Yang, P., Naidu, M., Rettie, A. E., Nath, A., Weleber, R. & Kelly, E. J. Feb 1 2018 In : The British journal of ophthalmology. 102, 2, p. 187-194 8 p.

Research output: Contribution to journalArticle

Point Mutation
Limbus Corneae
Retinal Pigment Epithelium
1 Citations

Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography

Gao, S. S., Patel, R. C., Jain, N., Zhang, M., Weleber, R. G., Huang, D., Pennesi, M. E. & Jia, Y. Jan 1 2017 In : Biomedical Optics Express. 8, 1, p. 48-56 9 p., #276323

Research output: Contribution to journalArticle

Optical Coherence Tomography
1 Citations

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Biswas, P., Duncan, J. L., Maranhao, B., Kozak, I., Branham, K., Gabriel, L., Lin, J. H., Barteselli, G., Navani, M., Suk, J., Parke, M., Schlechter, C., Weleber, R. G., Heckenlively, J. R., Dagnelie, G., Lee, P., Amerriazuddin, S. & Ayyagari, R. Apr 1 2017 In : Physiological Genomics. 49, 4, p. 216-229 14 p.

Research output: Contribution to journalArticle

Retinal Degeneration
Genetic Association Studies
3 Citations

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

Kumaran, N., Moore, A. T., Weleber, R. G. & Michaelides, M. Sep 1 2017 In : British Journal of Ophthalmology. 101, 9, p. 1147-1154 8 p.

Research output: Contribution to journalReview article

Leber Congenital Amaurosis
Genetic Engineering
Molecular Biology
Genetic Therapy
Animal Models