Projet-FREX

Ozvan Bocher et al.
Extension of SKAT to multi-category phenotypes through a geometrical interpretation
European Journal of Human Genetics 2021 vol.29
doi: 10.1038/s41431-020-00792-8

Olivier Quenez et al.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
European Journal of Human Genetics 2021 vol.29
doi: 10.1038/s41431-020-0672-2

Yiyi Ma et al.
Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype
JAMA Neurology 2019, vol. 76, issue 9
doi: 10.1001/jamaneurol.2019.1456

Khan W et al.
MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data
Bioinformatics 2018 34(19)
doi: 10.1093/bioinformatics/bty382

Emmanuelle Boscher et al.
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease
Journal of Alzheimer's Disease 2019, vol. 68, issue 3
doi: 10.3233/jad-180940

Artem Kim et al.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
Brain 2018, vol. 142, issue 1
doi: 10.1093/brain/awy290

Stéphanie Guey et al.
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
European Journal of Human Genetics 2017, vol. 25, issue 8
doi: 10.1038/ejhg.2017.92

Pierre-Antoine Juge et al.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
European Respiratory Journal 2017, vol. 49, issue 5
doi: 10.1183/13993003.02314-2016

Nicolas G. et al.
CNR-MAJ collaborators. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease
Mol Psychiatry. (2016) 21(6):831-6
doi: 10.1038/mp.2015.121

Le Guennec K. et al.
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
Mol Psychiatry. (2016) Dec 13
doi: 10.1038/mp.2016.226