Archives Publications
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