Ian M. MacDonald

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

Kang Zhang, Marina Kniazeva, Min Han et al. · Nature Genetics · 2001 · 457 citations

Medicine, Genetics, Molecular Genetics +12

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa et al. · Nature Genetics · 2009 · 268 citations

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

Two-Year Results After AAV2-Mediated Gene Therapy for Choroideremia: The Alberta Experience

Ioannis Dimopoulos, Alina Radziwon, Natalia M. Binczyk et al. · American Journal of Ophthalmology · 2018 · 178 citations

Medicine, Genetics, Molecular Genetics +6

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (<i>REP-1</i>) Mutations

Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka et al. · Investigative Ophthalmology & Visual Science · 2006 · 173 citations

Medicine, Genetics, Ophthalmology +17