Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Retinitis Pigmentosa  [Clear All Filters]
2014
Hoover-Fong, J. et al. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet 94, 105-12 (2014).
Xie, Y. Angela et al. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet 23, 5774-80 (2014).
2015
Riveiro-Álvarez, R. et al. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).
Scholl, H. P. N. et al. 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). PLoS One 10, e0143846 (2015).
2018
Latif, Z. et al. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci 59, 4552-4557 (2018).
Li, L. et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).