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Schorderet, Daniel F; Bernasconi, Maude; Tiab, Leila; Favez, Tatiana; Escher, Pascal (2014). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing. Advances in experimental medicine and biology, 801, pp. 171-176. Springer 10.1007/978-1-4614-3209-8_22
Schorderet, Daniel F; Iouranova, Alexandra; Favez, Tatiana; Tiab, Leila; Escher, Pascal (2013). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. BioMed research international, 2013(198089), p. 198089. Hindawi Publishing Corporation 10.1155/2013/198089
Michaelides, Michel; Gaillard, Marie-Claire; Escher, Pascal; Tiab, Leila; Bedell, Matthew; Borruat, François-Xavier; Barthelmes, Daniel; Carmona, Ruben; Zhang, Kang; White, Edward; McClements, Michelle; Robson, Anthony G; Holder, Graham E; Bradshaw, Keith; Hunt, David M; Webster, Andrew R; Moore, Anthony T; Schorderet, Daniel F; Munier, Francis L (2010). The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative ophthalmology & visual science, 51(9), pp. 4771-4780. Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4561
Escher, Pascal; Gouras, Peter; Roduit, Raphaël; Tiab, Leila; Bolay, Sylvain; Delarive, Tania; Chen, Shiming; Tsai, Chih-Cheng; Hayashi, Masanori; Zernant, Jana; Merriam, Joanna E; Mermod, Nicolas; Allikmets, Rando; Munier, Francis L; Schorderet, Daniel F (2009). Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Human mutation, 30(3), pp. 342-351. Wiley-Blackwell 10.1002/humu.20858
