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Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 21, 2018
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital BlindnessJi Yun Song, Puya Aravand, Sergei Nikonov, et al.
Ophthalmology|January 24, 2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, et al.
American Journal of Human Genetics|January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disabilityDaniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, 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.
European Journal of Human Genetics : EJHG|April 26, 2002
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East EuropeAlessandra Maugeri, Kris Flothmann, Nadine Hemmrich, et al.
Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, 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.
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