Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

Author:

Javadiyan Shari1,Lucas Sionne E. M.12,Wangmo Dechen3,Ngy Meng4,Edussuriya Kapila5,Craig Jamie E.1,Rudkin Adam167,Casson Robert67,Selva Dinesh67,Sharma Shiwani1,Lower Karen M.8,Meucke James67,Burdon Kathryn P.12ORCID

Affiliation:

1. Department of Ophthalmology; School of Medicine; Flinders University; Adelaide SA Australia

2. Menzies Institute for Medical Research; University of Tasmania; Hobart Tas. Australia

3. Department of Ophthalmology; JDWNR Hospital; Ministry of Health; Thimphu Bhutan

4. National Program for Eye Health; Phnom Penh Cambodia

5. Center for Sight; Teaching Hospital; Kandy Sri Lanka

6. South Australian Institute for Ophthalmology; University of Adelaide; Adelaide SA Australia

7. Sight For All; Adelaide SA Australia

8. Department of Haematology and Genetic Pathology; School of Medicine; Flinders University; Adelaide SA Australia

Funder

Channel 7 Children's Research Foundation

The Ophthalmic Research Institute of Australia

National Health and Medical Research Council

Australian Government Research Training Program Scholarship

Pennicott Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference21 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Centres for Disease Control and Prevention 2013 WHO/UNICEF coverage estiumates 2012 revision, July 2013. Immunization Vaccines and Biologicals, World Health Organisation https://www.cdc.gov/globalhealth/immunization/sis/vacs_detail.htm

3. Causes of severe visual impairment and blindness: Comparative data from Bhutanese and Laotian schools for the blind;Farmer;Asia Pac J Ophthalmol (Phila),2015

4. Epidemiology of cataract in childhood: A global perspective;Foster;Journal of Cataract and Refractive Surgery,1997

5. A survey of severe visual impairment and blindness in children attending thirteen schools for the blind in Sri Lanka;Gao;Ophthalmic Epidemiology,2011

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