1. CATCHing putative causative variants in consanguineous families. Issue 1 (December 2015) Authors: Santoni, Federico; Makrythanasis, Periklis; Antonarakis, Stylianos Journal: BMC bioinformatics Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree. Issue 1 (December 2016) Authors: Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; Issa, Mahmoud; Ansar, Muhammad; Hamamy, Hanan; Antonarakis, Stylianos Journal: Human genomics Issue: Volume 10:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells. Issue 1 (December 2017) Authors: Liu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; Williams, Evan; Germain, Pierre-Luc; Buljan, Marija; Sajic, Tatjana; Boersema, Paul; Shao, Wenguang; Faini, Marco; Testa, Giuseppe; Beyer, Andreas; Antonarakis, Stylianos; Aebersold, Ruedi Journal: Nature communications Issue: Volume 8:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The effect of genetic variation on promoter usage and enhancer activity. Issue 1 (December 2017) Authors: Garieri, Marco; Delaneau, Olivier; Santoni, Federico; Fish, Richard; Mull, David; Carninci, Piero; Dermitzakis, Emmanouil; Antonarakis, Stylianos; Fort, Alexandre Journal: Nature communications Issue: Volume 8:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype. (December 2015) Authors: Dieudonné, Francois-Xavier; O'Connor, Patrick; Gubler-Jaquier, Pascale; Yasrebi, Haleh; Conne, Beatrice; Nikolaev, Sergey; Antonarakis, Stylianos; Baranov, Pavel; Curran, Joseph Journal: BMC genomics Issue: Volume 16:Number 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing. Issue 3 (June 2017) Authors: Auffray, Charles; Sagner, Michael; Abdelhak, Sonia; Adcock, Ian; Agusti, Alvar; Amaral, Margarida; Antonarakis, Stylianos; Arena, Ross; Argoul, Françoise; Balling, Rudi; Barabasi, Albert-Laszlo; Beckmann, Jacques; Bjartell, Anders; Blomberg, Niklas; Bourgeron, Thomas; Boutron, Bertrand; Brahmacha... Journal: Progress in preventive medicine Issue: Volume 2:Issue 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗