Grand Projet

Bayard Q et al.
Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress
Nature Communications 2018 9(1)
doi: 10.1038/s41467-018-07552-9

Böhm J et al.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Journal of Medical Genetics 2018, vol. 56, issu 9
doi: 10.1136/jmedgenet-2018-105390

Deveau P et al.
QuantumClone: clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction
Bioinformatics 2018 34(11)
doi: 10.1093/bioinformatics/bty016

Girard E et al.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
International Journal of Cancer 2018 144(8)
doi: 10.1002/ijc.31921

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

Lornage X et al.
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Journal of Neuromuscular Diseases 2018 5(2)
doi: 10.3233/JND-170265

Angela Bellini et al.
Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma
International Journal of Cancer 2019, vol. 145, issue 10
doi: 10.1002/ijc.32361

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

Battle Karimi et al.
Biogeography of Soil Bacterial Networks along a Gradient of Cropping Intensity
Scientific Reports 2019, vol. 9, issue 1
doi: 10.1038/s41598-019-40422-y

Xavière Lornage et al.
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)
Acta Neuropathologica 2019, vol. 137, issue 3
doi: 10.1007/s00401-019-01963-8