CNRGH
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
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
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
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
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
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
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
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
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
Mary L et al.
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
European Journal of Human Genetics 2018 26(7)
doi: 10.1038/s41431-018-0096-4