Human Genome Epidemiology Literature Finder
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Records 1 - 5 (of 5 Records) |
| Query Trace: Retinal Dystrophies and PRPH2[original query] |
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Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.
PLoS genetics 2023 2 19 (2): e1010587. Currant Hannah, Fitzgerald Tomas W, Patel Praveen J, Khawaja Anthony P, , Webster Andrew R, Mahroo Omar A, Birney Ew |
| Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8365-72. Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjio |
| Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
| A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2019 3 21 (10): 2336-2344. Wolock Charles J, Stong Nicholas, Ma Chu Jian, Nagasaki Takayuki, Lee Winston, Tsang Stephen H, Kamalakaran Sitharthan, Goldstein David B, Allikmets Ran |
| New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. International journal of molecular sciences 2023 4 24 (7): . Wang Yingwei, Wang Junwen, Jiang Yi, Zhu Di, Ouyang Jiamin, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Sun Wenmin, Wang Panfeng, Zhang Qingjio |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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