Article
Next-generation genetic testing for retinitis pigmentosa.
Human mutation - 1 Jun 2012
Neveling Kornelia, Collin Rob W J, Gilissen Christian, van Huet Ramon A C, Visser Linda, Kwint Michael P, Gijsen Sabine J, Zonneveld Marijke N, Wieskamp Nienke, de Ligt Joep, Siemiatkowska Anna M, Hoefsloot Lies H, Buckley Michael F, Kellner Ulrich, Branham Kari E, den Hollander Anneke I, Hoischen Alexander, Hoyng Carel, Klevering B Jeroen, van den Born L Ingeborgh, Veltman Joris A, Cremers Frans P M, Scheffer Hans
Abstract excerpt
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All known inherited retinal disease genes (n = 111) were captured and simultaneously analyzed using NGS in 100 RP patients...
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