Publications

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Filters: Keyword is Male and Author is Ayuso, Carmen  [Clear All Filters]
2017
Xu M, Xie YAngela, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Álvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 ;100(4):592-604.
2015
Riveiro-Álvarez R, Xie YAngela, López-Martínez M-Á, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina M-I, Zernant J, Jhangiani S, Muzny DM, Yuan B, Boerwinkle E, Gibbs RA, Lupski JR, Ayuso C, Allikmets R. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
2014
Zernant J, Xie YAngela, Ayuso C, Riveiro-Álvarez R, López-Martínez M-Á, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 ;23(25):6797-806.
Xie YAngela, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 ;23(21):5774-80.