Archives Publications
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
van der Beek N et al.
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
European Journal of Human Genetics 2018 27(3)
doi: 10.1038/s41431-018-0250-z
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
Ben Youssef G et al.
Ontogeny of human mucosal-associated invariant T cells and related T cell subsets
The Journal of Experimental Medicine 2018 215(2)
doi: 10.1084/jem.20171739
Wery M et al.
Native elongating transcript sequencing reveals global anti-correlation between sense and antisense nascent transcription in fission yeast
RNA 2017 24(2)
doi: 10.1261/rna.063446.117