Anneke I. den Hollander

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

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Carrie M Louie, Gianluca Caridi, Vanda S. Lopes et al. · Nature Genetics · 2010 · 189 citations

Medicine, Genetics, Molecular Genetics +13

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Johannes P. H. van de Ven, Sara C. Nilsson, Perciliz L. Tan et al. · Nature Genetics · 2013 · 187 citations

Medicine, Genetics, Ophthalmology +13

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

Kinga M. Bujakowska, Qi Zhang, Anna M. Siemiatkowska et al. · Human Molecular Genetics · 2014 · 160 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mutations of the <i>CEP290</i> gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle et al. · Human Mutation · 2007 · 159 citations

Life Sciences, Genetics, Molecular Genetics +15