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 · 269 citations

Life Sciences, Genetics, Molecular Genetics +11

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Jacque L. Duncan, Eric A. Pierce, Amy Laster et al. · Translational Vision Science & Technology · 2018 · 257 citations · Full text

Medicine, Genetics, Ophthalmology +14

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 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Progression of Geographic Atrophy in Age-related Macular Degeneration

Tiarnán D L Keenan, Elvira Agrón, Amitha Domalpally et al. · Ophthalmology · 2018 · 211 citations

Medicine, Ophthalmology, Vision Science +14

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 · 177 citations · Full text

Life Sciences, Genetics, Neuroscience +17