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Publications 2014

Auclair G. et al.; Ontogeny of CpG island methylation and specificity of DNMT3 methyltransferases during embryonic development in the mouse. Genome Biol. 2014 Dec 3;15(12):545.

Persoons et al.; Patterns of genomic variation in the poplar rust fungus Melampsora larici-populina identify pathogenesis-related factors. Front Plant Sci. 2014 Sep 15;5:450. doi: 10.3389/fpls.2014.00450. eCollection 2014.

Pernaci et al.; Genome-wide patterns of segregation and linkage disequilibrium: the construction of a linkage genetic map of the poplar rust fungus Melampsora larici-populina. Front Plant Sci. 2014 Sep 10;5:454. doi: 10.3389/fpls.2014.00454. eCollection 2014.

Strullu et al.; Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet. 2014 Aug 5. pii: jmedgenet-2014-102611. doi: 10.1136/jmedgenet-2014-102611. 

El Shamieh S et al.; Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27.

Scheideker S. et al.; Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014 Feb;51(2):132-6. doi: 10.1136/jmedgenet-2013-101785. Epub 2013 Sep 11. 

Audo et al.; The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. 

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.

Itzykson R et al.; Clonal architecture of chronic myelomonocytic leukemias. Blood. 2013 Mar 21;121(12):2186-98. doi: 10.1182/blood-2012-06-440347. Epub 2013 Jan 14.

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 disease. Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15.

May-Panloup et al., Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling. Hum Reprod. 2012 Mar;27(3):829-43. doi: 10.1093/humrep/der431. 

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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