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ARVO Annual Meeting Abstract June 2017

Genomics approaches to identify an elusive defect at chromosome 17q22 in an autosomal dominant retinitis pigmentosa family

Susanne Roosing; Muhammad Khan; Shazia Micheal; Marijke N. Zonneveld-Vrieling; Beryl Royer-Bertrand; Carlo Rivolta; Anneke I Den Hollander; Carel C B Hoyng; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2750.

ARVO Annual Meeting Abstract September 2016

Whole exome screening and identification of novel variants in a cohort of 28 Greek and Swedish families with cone-rod dystrophy.

Nicola Bedoni; Konstantinos Nikopoulos; Pietro Farinelli; Beryl Royer-Bertrand; Sara Balzano; Sten Andreasson; Miltiadis K Tsilimbaris; Chrysanthi Tsika; Stella Blazaki; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):671.

ARVO Annual Meeting Abstract September 2016

Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.

Katarina Cisarova; Nicola Bedoni; Rocio Sanchez-Alcudia; Beryl Royer-Bertrand; Almudena Avila-Fernandez; Marta Corton; Olga Zurita; Sara Balzano; Konstantinos Nikopoulos; Ayuso Carmen; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):673.

ARVO Annual Meeting Abstract September 2016

Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophy

Konstantinos Nikopoulos; Pietro Farinelli; Beryl Royer-Bertrand; Nicola Bedoni; Ulrika Kjellström; Sten Andreasson; Miltiadis K Tsilimbaris; Chrysanthi Tsika; Stella Blazaki; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

A tool for predicting disease genes associated with dominant retinal degenerations.

Beryl Royer-Bertrand; Silvio Alessandro Di Gioia; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1085.

ARVO Annual Meeting Abstract June 2015

Identification of a novel mutation in the mevalonate kinase gene associated with retinitis pigmentosa

Jia Li; Beryl Royer-Bertrand; Konstantinos Nikopoulos; Almudena Avila-Fernandez; Marta Corton; Rocio Sanchez-Alcudia; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1097.

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