Anna M. Siemiatkowska

Next‐generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen et al. · Human Mutation · 2012 · 284 citations · Full text

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 · 155 citations · Full text

Ocular Disease, Developmental Biology, Retina +15

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Rıza Köksal Özgül, Anna M. Siemiatkowska, Didem Yücel et al. · The American Journal of Human Genetics · 2011 · 115 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +11

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Dikla Bandah‐Rozenfeld, Rob W.J. Collin, Eyal Banin et al. · The American Journal of Human Genetics · 2010 · 104 citations · Full text

Genome Instability, Mendelian Disorder, Genetic Disorder +6

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

Rob W.J. Collin, L. Ingeborgh van den Born, B. Jeroen Klevering et al. · Investigative Ophthalmology & Visual Science · 2011 · 79 citations