Fishman, Gerald A.

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

Haider, N. B., Jacobson, S. G., Cideciyan, A. V., Swiderski, R., Streb, L. M., Searby, C., Beck, G., Hockey, R., Hanna, D. B., Gorman, S., et al. (2000) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 507

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Morimura, H., Fishman, G. A., Grover, S. A., Fulton, A. B., Berson, E. L., & Dryja, T. P. (1998) · Proceedings of the National Academy of Sciences

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 481

Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older

Grover, S., Fishman, G. A., Anderson, R. J., Tozatti, M. S. V., Heckenlively, J. R., Weleber, R. G., Edwards, A. O., & Brown, J. (1999) · Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 235

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Wang, X., Wang, H., Sun, V., Tuan, H.-F., Keser, V., Wang, K., Ren, H., Lopez, I., Zaneveld, J. E., Siddiqui, S., et al. (2013) · Journal of Medical Genetics

Retinal Development and DisordersGenomics and Rare Diseases

Cited by 159

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

Scholl, H. P. N., Moore, A. T., Koenekoop, R. K., Wen, Y., Fishman, G. A., van den Born, L. I., Bittner, A., Bowles, K., Fletcher, E. C., Collison, F. T., et al. (2015) · PLOS ONE

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 71

IMPROVEMENT IN VISUAL FUNCTION AND FUNDUS FINDINGS FOR A PATIENT WITH VITAMIN A–DEFICIENT RETINOPATHY

APUSHKIN, M. A., & FISHMAN, G. A. (2005) · Retina

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 34

Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice

Rabiee, B., Anwar, K. N., Shen, X., Putra, I., Liu, M., Jung, R., Afsharkhamseh, N., Rosenblatt, M. I., Fishman, G. A., Liu, X., et al. (2020) · Science Translational Medicine

Ocular Disorders and TreatmentsRetinal Development and Disorders

Cited by 28