Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan

Author:

Basharat RabiaORCID,de Bruijn Suzanne E.,Zahid Muhammad,Rodenburg Kim,Hitti-Malin Rebekkah J.,Rodríguez-Hidalgo María,Boonen Erica G.M.,Jarral Afeefa,Mahmood Arif,Corominas Jordi,Khalil Sharqa,Zai Jawaid Ahmed,Ali Ghazanfar,Ruiz-Ederra Javier,Gilissen Christian,Cremers Frans P.M.,Ansar Muhammad,Panneman Daan M.,Roosing SusanneORCID

Publisher

Elsevier BV

Reference66 articles.

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3. The molecular basis of human retinal and vitreoretinal diseases;Berger;Prog. Retin. Eye Res.,2010

4. Whole exome sequencing reveals mutations in known retinal disease genes in 33 out of 68 Israeli families with inherited retinopathies;Beryozkin;Sci. Rep.,2015

5. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular Pathology of inherited retinal disease;Carss;Am. J. Hum. Genet.,2017

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