Liliana Mizrahi‐Meissonnier
Hebrew University of Jerusalem(IL)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, melanin and skin pigmentation, Glaucoma and retinal disorders, RNA regulation and disease
Most-Cited Works
- → A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews(2011)138 cited
- → BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome(2012)125 cited
- → Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa(2010)103 cited
- → The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic(2012)96 cited
- → A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome(2014)89 cited
- → Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies(2015)79 cited
- → Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark(2012)68 cited
- → Association Between Missense Mutations in theBBS2Gene and Nonsyndromic Retinitis Pigmentosa(2014)50 cited
- → A Homozygous Frameshift Mutation inBEST1Causes the Classical Form of Best Disease in an Autosomal Recessive Mode(2011)47 cited
- → Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array(2010)45 cited