De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases

Author:

Li Wei12,He Xiang-Dong3,Yang Zheng-Tao12,Han Dong-Ming12,Sun Yan3,Chen Yan-Xian4,Han Xiao-Tong5,Guo Si-Cheng26,Ma Yu-Ting12,Jin Xin2,Yang Huan-Ming12,Gao Ya2,Wang Zhuo-Shi3,Li Jian-Kang2,He Wei3

Affiliation:

1. College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China

2. BGI-Shenzhen, Shenzhen, China

3. He University, Shenyang, China

4. Department of Ophthalmology, Peking University Shenzhen Hospital, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, China

5. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, China

6. College of Plant Protection, Hunan Agricultural University, Changsha, Hunan, China

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference66 articles.

1. Epidemiology of blindness in children;Solebo;Arch Dis Child,2017

2. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders;Lenassi;Genet Med,2020

3. Introductory genetics for the ophthalmologist;Wygnanski-Jaffe;Am Acad Ophthalmol, Focal Points. Clin Module Ophthalmol,2005

4. The Lancet Global Health Commission on Global Eye Health: vision beyond 2020;Burton;Lancet Glob Health,2021

5. Practical guide to genetic screening for inherited eye diseases;Méjécase;Ther Adv Ophthalmol,2020

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