Nizar Smaoui
AbbVie (United States)(US)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Genetic Associations and Epidemiology, Mitochondrial Function and Pathology, interferon and immune responses
Most-Cited Works
- → A candidate gene for familial Mediterranean fever(1997)1,535 cited
- → Clinical application of whole-exome sequencing across clinical indications(2015)1,051 cited
- → Genetic architecture of human plasma lipidome and its link to cardiovascular disease(2019)192 cited
- → RS-1Gene Delivery to an AdultRs1hKnockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis(2004)191 cited
- → De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy(2015)122 cited
- → A Homozygous Splice Mutation in theHSF4Gene Is Associated with an Autosomal Recessive Congenital Cataract(2004)99 cited
- → Molecular Genetics of Cataract(2003)67 cited
- → Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis(2010)61 cited
- → The functional effect of pathogenic mutations in Rab escort protein 1(2009)61 cited
- → Screening of the Eight BBS Genes in Tunisian Families: No Evidence of Triallelism(2006)60 cited