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Lancet, The, ISSN 0140-6736, 2017, Volume 389, pp. S14 - S14
Abstract Background Over the past 5 years, exome sequencing and whole-genome sequencing have been extensively used to identify genes underlying rare mendelian... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Genetic research | Genetic aspects | Genomes | Genes | Genomics
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 829 - U89
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 02/2012, Volume 96, Issue 2, pp. 208 - 212
Journal Article
Nature Genetics, ISSN 1061-4036, 2006, Volume 38, Issue 8, pp. 917 - 920
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2006, Volume 38, Issue 8, pp. 910 - 916
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1145 - 1155
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low‐visual... 
transducin | mutations | GNAT2 | achromatopsia | copy number variations | Genetic research | Genetic aspects | Color blindness | Genes | Clonal deletion | Copy number | Acetylcholine receptors | Nystagmus | Transducin | Photoreceptors | Mutation | Acuity | Hereditary diseases | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 24, pp. 9856 - 9861
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which... 
Cardiovascular system | Exome | COS cells | Phenotypes | Blood vessels | Genetic mutation | Embryos | Sequencing | Zinc | Mutant proteins | SET DOMAIN | ZINC FINGERS | GENE | FZD4 | IKAROS | MULTIDISCIPLINARY SCIENCES | NORRIE DISEASE | LRP5 | MUTATIONS | IDENTIFICATION | LOCUS | Humans | Cercopithecus aethiops | Molecular Sequence Data | Family Health | Male | Gene Expression Profiling | Zebrafish - embryology | Gene Knockdown Techniques | DNA-Binding Proteins - metabolism | Cell Nucleus - metabolism | DNA Mutational Analysis | Female | Retinal Vessels - embryology | Amino Acid Sequence | Retinal Vessels - metabolism | Animals, Genetically Modified | Zebrafish Proteins - metabolism | Vitreoretinopathy, Proliferative - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Vitreoretinopathy, Proliferative - metabolism | Zebrafish - genetics | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Vitreoretinopathy, Proliferative - genetics | Animals | Pedigree | Zebrafish - metabolism | Luminescent Proteins - genetics | Mutation | Zebrafish Proteins - genetics | COS Cells | Microscopy, Fluorescence | Luminescent Proteins - metabolism | Gene mutations | Zebra fish | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Retinal diseases | Health aspects | DNA sequencing | Retina | Zebrafish | Kinases | Cells | Deoxyribonucleic acid--DNA | Index Medicus | Biological Sciences
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1319 - 1329
RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated... 
retinitis pigmentosa | homeobox-containing transcription factor | loss of function | novel ARRP gene | RAX2
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 1028 - 1028
The original version of this Article contained an incorrect version of Fig. 3, which included two variants initially shown in black text in Fig. 3a that the... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 948 - 954
Journal Article