2018
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
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
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