GenomEast

Malysheva V. et al.
Reconstruction of gene regulatory networks reveals chromatin remodelers and key transcription factors in tumorigenesis
Genome Med. (2016) May 19.8(1):57
doi: 10.1186/s13073-016-0310-3

Schaefer E. et al.
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
J Hum Genet. (2016) 61(5):447-50
doi: 10.1038/jhg.2015.162

Santamaría Nuñez G.et al.
Lurbinectedin Specifically Triggers the Degradation of Phosphorylated RNA Polymerase II and the Formation of DNA Breaks in Cancer Cells
Mol Cancer Ther. (2016) 15(10):2399-2412
doi:

Guarani V. et al.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Elife. (2016) 5. pii: e17163
doi: 10.7554

Renaud M. et al.
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia
J Neurol. (2016) 263(8):1552-8
doi: 10.1007/s00415-016-8167-3

Haas G. et al.
Identification of factors involved in target RNA-directed microRNA degradation
Nucleic Acids Res. (2016) 44(6):2873-87
doi: 10.1093/nar/gkw040

Hardies K. et al.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Brain. (2016) 139(Pt 9):2420-30
doi: 10.1093/brain/aww180

Prasad MK. et al.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
J Med Genet. 2016 53(2):98-110
doi: 10.1136/jmedgenet-2015-103302

Demais V. et al.
Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions
J Neurosci. (2016) 36: 8012-25
doi: 10.1523/JNEUROSCI.0900-16.2016