Alessandro Iannaccone

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Kirk Mykytyn, Terry A. Braun, Rivka Carmi et al. · Nature Genetics · 2001 · 268 citations

Obesity, Metabolic Syndrome, Metabolic Disorder +8

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena V. Filippova et al. · The American Journal of Human Genetics · 2002 · 245 citations · Full text

North American Cohort, Mendelian Disorder, Genetic Disorder +10

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Jacque L. Duncan, Eric A. Pierce, Amy Laster et al. · Translational Vision Science & Technology · 2018 · 242 citations · Full text

Retinal Diseases, Ocular Disease, Retina +9

Progression of Geographic Atrophy in Age-related Macular Degeneration

Tiarnán D L Keenan, Elvira Agrón, Amitha Domalpally et al. · Ophthalmology · 2018 · 201 citations

Ocular Disease, Age-related Diseases, Geographic Atrophy +1

Human <i>CHN1</i> Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

Noriko Miyake, John K. Chilton, Maria Psatha et al. · Science · 2008 · 175 citations · Full text

Ganglion Cell, Signal Transduction, Developmental Biology +15