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Publications

Publications 2013

Boukhris et al.; Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006.

Letouzé et al.; SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell. 2013 Jun 10;23(6):739-52. doi: 10.1016/j.ccr.2013.04.018. 

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. 

Nicolas et al., Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013 Jan 8;80(2):181-7 

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.

Carmignac et al., In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome., Am J Hum Genet. 2012 November 2; 91(5):950-957.

Depienne et al. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry. 2012 Oct 23;2:e179.

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.

Pottier et al., High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer diseaseMol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15.

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.

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