Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum

Purpose: To determine the molecular diagnostic yield, variant spectrum, inheritance architecture, and influence of consanguinity on whole-exome sequencing outcomes in a South Indian retinitis pigmentosa (RP) cohort. Design: Prospective, registry-based cohort study. Subjects: A total of 113 affected...

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Autors principals:	Sujay Jaju, DNB, Jayashree Sivagnanam, BTech, Parvathy Menon, BTech, Elakkiya Nandini G R, MSc, Padmapriya Shanmugam, MSc, Anju Jose, DO, DNB, Rodney Morris, MS, DO, Kim Ramasamy, DO, DNB, Narendran Venkatapathy, DO, DNB, Jaishree Pandian, PhD, Siddharth Narendran, MS
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2026-10-01
Col·lecció:	Ophthalmology Science
Matèries:	Retinitis pigmentosa Whole-exome sequencing Inherited retinal disease Consanguinity South India
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2666914526002794
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