Home > Services > Publication overview
Publications
Publications 2013
Ishida et al., Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013 Mar 31. doi: 10.1038/ng.2601.
Pasquet et al., High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013 Jan 31;121(5):822-9. doi: 10.1182/blood-2012-08-447367.
Schluth-Bolard et al., Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. J Med Genet. 2013 Jan 12.
Publications 2012
Zeitz et al., Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness., Am J Hum Genet. 2012 Dec 11. doi:pii: S0002-9297(12)00584-8. 10.1016/j.ajhg.2012.10.023.
Gonzalez-Aguilar et al., Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas., Clin Cancer Res. 2012 Oct 1;18(19):5203-11. doi: 10.1158/1078-0432.CCR-12-0845. Epub 2012 Jul 26.
Zucman-Rossi et al., Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma, Nature Genetics (2012), doi:10.1038/ng.2256
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.
References
Contact us
