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American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Investigative Ophthalmology & Visual Science|January 11, 2011
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch populationRob W J Collin, L Ingeborgh van den Born, B Jeroen Klevering, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Ophthalmology|April 5, 2014
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degenerationKoji M Nishiguchi, Almudena Avila-Fernandez, Ramon A C van Huet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
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