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Publications 2012
Depienne et al., RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans, Am J Hum Genet. 2012 Feb 10;90(2):301-7.
Audo et al., Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness., Am J Hum Genet. 2012 Feb 10;90(2):321-30.
Audo et al., Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases., Orphanet J Rare Dis. 2012 Jan 25;7(1):8.
Bujakowska et al., CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653.
Publications 2011
P. Edery et al., Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA, Science, vol. 332, pp. 240-243, 2011.
Isidor et al., Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis, Nat Genet. 2011 Mar 6;43(4):306-8.
Simon et al., Clinical Events as a Function of Proton Pump Inhibitor Use, Clopidogrel Use, and Cytochrome P450 2C19 Genotype in a Large Nationwide Cohort of Acute Myocardial Infarction, Circulation. 2011; 123:474-482.
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