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Retina (Philadelphia, Pa.), ISSN 0275-004X, 01/2019, p. 1
We hypothesized that severe forms of neovascular age-related macular degeneration (AMD) such as large pigment epithelial detachments poorly responding to... 
Journal Article
Science Translational Medicine, ISSN 1946-6234, 06/2015, Volume 7, Issue 291, pp. 291fs24 - 291fs24
The total amount of functional mutant protein produced by cells underpins disease pleiotropy in the ciliopathies. 
MEDICINE, RESEARCH & EXPERIMENTAL | MODEL | GENE | CEP290 | MUTATION | CELL BIOLOGY | Exons - genetics | Genetic Predisposition to Disease - genetics | Genetic Pleiotropy | Models, Genetic | Disease - genetics | Humans
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2018, Volume 27, Issue 15, pp. 2689 - 2702
Abstract CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS). Using... 
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 864 - 870
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 10, pp. 2980 - 2993
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 971 - 980
Journal Article
Molecular Vision, 04/2014, Volume 20, pp. 575 - 592
To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the... 
Follow-Up Studies | Tomography, Optical Coherence | Humans | Middle Aged | Vitelliform Macular Dystrophy - diagnosis | Fluorescence | Male | Disease Progression | Young Adult | Multimodal Imaging | Adolescent | Vitelliform Macular Dystrophy - pathology | Adult | Female | Aged | Child | Fundus Oculi
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 975 - 977
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1978, Volume 54, Issue 5, p. 346
BackgroundNon-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and... 
Journal Article
Journal Article