Maria A. Musarella
SUNY Downstate Health Sciences University(US)
Publications by Year
Research Areas
Retinal Development and Disorders, melanin and skin pigmentation, Retinal Diseases and Treatments, Advanced biosensing and bioanalysis techniques, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness(2000)349 cited
- → Mutations in MKKS cause Bardet-Biedl syndrome(2000)270 cited
- → A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa(2002)245 cited
- → Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism(1994)232 cited
- → Dystrophin expression in the human retina is required for normal function as defined by electroretinography(1993)162 cited
- → Ocular Involvement in Neuroblastoma: Prognostic Implications(1984)161 cited
- → Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families