Publications
Magalhães M et al.
Dynamic changes of DNA methylation and lung disease in cystic fibrosis: lessons from a monogenic disease
Epigenomics 2018 10(8)
doi: 10.2217/epi-2018-0005
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
Lønning PE et al.
White Blood Cell BRCA1 Promoter Methylation Status and Ovarian Cancer Risk
Annals of Internal Medicine 2018 168(5)
doi: 10.7326/M17-0101
Le Guennec K et al.
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
Journal of Alzheimers Disease 2018 62(2)
doi: 10.3233/jad-170981
Laugel-Haushalter V et al.
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
Frontiers in Physiology 2018 9
doi: 10.3389/fphys.2018.01329
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
Kernaleguen M et al.
Whole-Genome Bisulfite Sequencing for the~Analysis of Genome-Wide DNA Methylation and Hydroxymethylation Patterns at Single-Nucleotide Resolution
Springer New York 2018
doi: 10.1007/978-1-4939-7774-1_18
Jonson PH et al.
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
European Journal of Neurology 2018 25(5)
doi: 10.1111/ene.13598
Imbert-Bouteille M et al.
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
European Journal of Medical Genetics 2019 62(3)
doi: 10.1016/j.ejmg.2018.07.003
Husson T et al.
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
Translational Psychiatry 2018 8(1)
doi: 10.1038/s41398-018-0291-7
How-Kit A et al.
Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR
Human Mutation 2017 39(3)
doi: 10.1002/humu.23379
Guissart C et al.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
The American Journal of Human Genetics 2018 102(5)
doi: 10.1016/j.ajhg.2018.02.021
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