CNRGH

E. Gargaun et al.
P.335Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy
Neuromuscular Disorders 2019, vol. 29
doi: 10.1016/j.nmd.2019.06.449

Andrea R. Waksmunski et al.
Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration
Investigative Opthalmology & Visual Science 2019, vol. 60, issue 12
doi: 10.1167/iovs.19-27827

Antoine Daunay et al.
Low temperature isothermal amplification of microsatellites drastically reduces stutter artifact formation and improves microsatellite instability detection in cancer
Nucleic Acids Research 2019, vol. 47, issue 21
doi: 10.1093/nar/gkz811

Leena George et al.
Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthma
Allergy 2019, vol. 75, issue 2
doi: 10.1111/all.14016

Monia Zidane et al.
Genetic susceptibility to radiation-related differentiated thyroid cancers: a systematic review of literature
Endocrine-Related Cancer 2019, vol. 26, issue 10
doi: 10.1530/erc-19-0321

N. Alcala et al.
Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids
Nature Communications 2019, vol. 10, issue 1
doi: 10.1038/s41467-019-11276-9

Sara Lindström et al.
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism
Blood 2019, vol. 134, issue 19
doi: 10.1182/blood.2019000435

Chris Balak et al.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
The American Journal of Human Genetics 2019, vol. 105, issue 3
doi: 10.1016/j.ajhg.2019.07.010

Joris Deelen et al.
A meta-analysis of genome-wide association studies identifies multiple longevity genes
Nature Communications 2019, vol. 10, issue 1
doi: 10.1038/s41467-019-11558-2

François Lecoquierre et al.
Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
American Journal of Medical Genetics Part A 2019, vol. 179, issue 11
doi: 10.1002/ajmg.a.61317