Publications
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
Geoffroy V et al.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Human Mutation 2018 39(7)
doi: 10.1002/humu.23539
Diop G et al.
Genetic variants of RNASE3 (ECP) and susceptibility to severe malaria in Senegalese population
Malaria Journal 2018 17(1)
doi: 10.1186/s12936-018-2205-9
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
Delyon J et al.
STAT3 Mediates Nilotinib Response in KIT-Altered Melanoma: A Phase II Multicenter Trial of the French Skin Cancer Network
Journal of Investigative Dermatology 2018 138(1)
doi: 10.1016/j.jid.2017.07.839
de Haan HG et al.
Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis
Circulation: Genomic and Precision Medicine 2018 11(2
doi: 10.1161/circgen.117.001827
Daviaud C et al.
Whole-Genome Bisulfite Sequencing Using the Ovation® Ultralow Methyl-Seq Protocol
Springer New York 2017
doi: 10.1007/978-1-4939-7481-8_5
Dabaj I et al.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Muscle & Nerve 2018 58(2)
doi: 10.1002/mus.26137
Czimmerer Z et al.
Extensive and functional overlap of the STAT6 and RXR cistromes in the active enhancer repertoire of human CD14$mathplus$ monocyte derived differentiating macrophages
Molecular and Cellular Endocrinology 2018 471
doi: 10.1016/j.mce.2017.07.034
Czimmerer Z et al.
The Transcription Factor STAT6 Mediates Direct Repression of Inflammatory Enhancers and Limits Activation of Alternatively Polarized Macrophages
Immunity 2018 48(1)
doi: 10.1016/j.immuni.2017.12.010
Coutton C et al.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
Nature Communications 2018 9(1)
doi: 10.1038/s41467-017-02792-7
Ceyzériat K et al.
Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease
Acta Neuropathologica Communications 2018 6(1)
doi: 10.1186/s40478-018-0606-1
Calderaro J et al.
Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma
New England Journal of Medicine 2018 379(12)
doi: 10.1056/NEJMc1805673
Busato F et al.
Quantitative DNA Methylation Analysis at Single-Nucleotide Resolution by Pyrosequencing®
Springer New York 2017
doi: 10.1007/978-1-4939-7481-8_22
Bourcier R et al.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
The American Journal of Human Genetics 2018 102(1)
doi: 10.1016/j.ajhg.2017.12.006
Bonnet E et al.
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples
PLOS ONE 2018 13(4)
doi: 10.1371/journal.pone.0195471
Bonaventure A et al.
Genetic polymorphisms of Th2 interleukins, history of asthma or eczema and childhood acute lymphoid leukaemia: Findings from the ESCALE study (SFCE)
Cancer Epidemiology 2018
doi: 10.1016/j.canep.2018.05.004
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
Bis JC et al.
Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
Molecular Psychiatry 2018
doi: 10.1038/s41380-018-0112-7
Ben Hafsa A et al.
Status of potato viruses in Tunisia and molecular characterization of Tunisian Potato Virus X (PVX isolates)
European Journal of Plant Pathology 2017 151(3)
doi: 10.1007/s10658-017-1407-2
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
Baudrin LG et al.
Improved Microsatellite Instability Detection and Identification by Nuclease-Assisted Microsatellite Instability Enrichment Using HSP110 T17
Clinical Chemistry 2018 64(8)
doi: 10.1373/clinchem.2018.287490
Baudrin LG et al.
Molecular and Computational Methods for the Detection of Microsatellite Instability in Cancer
Frontiers in Oncology 2018 8
doi: 10.3389/fonc.2018.00621
Ávila-Polo R et al.
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Journal of Neuropathology & Experimental Neurology 2018 77(12)
doi: 10.1093/jnen/nly095
Aubart M et al.
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
European Journal of Human Genetics 2018 26(12)
doi: 10.1038/s41431-018-0164-9
Assoum M et al.
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
American Journal of Medical Genetics Part A 2018 176(11)
doi: 10.1002/ajmg.a.40357
Anttila V et al.
Analysis of shared heritability in common disorders of the brain
Science 2018 360(6395)
doi: 10.1126/science.aap8757
Gitte B et al.
A Summary of the Biological Processes, Disease-Associated Changes and Clinical Applications of DNA Methylation
Springer New York 2017
doi: 10.1007/978-1-4939-7481-8_1
Gitte B et al.
miRNA profiling identifies deregulated miRNAs associated with osteosarcoma development and time to metastasis in two large cohorts
Molecular Oncology 2017 12(1)
doi: 10.1002/1878-0261.12154
Abraham E et al.
Pregnancy exposure to atmospheric pollution and meteorological conditions and placental DNA methylation
Environment International 2018 118
doi: doi./10.1016/j.envint.2018.05.007