| Chromosome 21 and down syndrome: from genomics to pathophysiology SE Antonarakis, R Lyle, ET Dermitzakis, A Reymond, S Deutsch Nature reviews genetics 5 (10), 725-738, 2004 | 977 | 2004 |
| Common regulatory variation impacts gene expression in a cell type–dependent manner AS Dimas, S Deutsch, BE Stranger, SB Montgomery, C Borel, ... Science 325 (5945), 1246-1250, 2009 | 903 | 2009 |
| Genome-wide associations of gene expression variation in humans BE Stranger, MS Forrest, AG Clark, MJ Minichiello, S Deutsch, R Lyle, ... PLoS genetics 1 (6), e78, 2005 | 677 | 2005 |
| Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3′ untranslated region: a mechanism for functional single-nucleotide … P Sethupathy, C Borel, M Gagnebin, GR Grant, S Deutsch, TS Elton, ... The American Journal of Human Genetics 81 (2), 405-413, 2007 | 482 | 2007 |
| Genetic structure of Europeans: a view from the North–East M Nelis, T Esko, R Mägi, F Zimprich, A Zimprich, D Toncheva, ... PloS one 4 (5), e5472, 2009 | 419 | 2009 |
| Methane yield phenotypes linked to differential gene expression in the sheep rumen microbiome W Shi, CD Moon, SC Leahy, D Kang, J Froula, S Kittelmann, C Fan, ... Genome research 24 (9), 1517-1525, 2014 | 367 | 2014 |
| Domains of genome-wide gene expression dysregulation in Down’s syndrome A Letourneau, FA Santoni, X Bonilla, MR Sailani, D Gonzalez, J Kind, ... Nature 508 (7496), 345-350, 2014 | 299 | 2014 |
| Numerous potentially functional but non-genic conserved sequences on human chromosome 21 ET Dermitzakis, A Reymond, R Lyle, N Scamuffa, C Ucla, S Deutsch, ... Nature 420 (6915), 578-582, 2002 | 297 | 2002 |
| Polymorphisms in the low-density lipoprotein receptor–related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites SL Ferrari, S Deutsch, U Choudhury, T Chevalley, JP Bonjour, ... The American Journal of Human Genetics 74 (5), 866-875, 2004 | 289 | 2004 |
| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance P Prandini, S Deutsch, R Lyle, M Gagnebin, CD Vivier, M Delorenzi, ... The American Journal of Human Genetics 81 (2), 252-263, 2007 | 254 | 2007 |
| Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome R Lyle, C Gehrig, C Neergaard-Henrichsen, S Deutsch, SE Antonarakis Genome research 14 (7), 1268-1274, 2004 | 248 | 2004 |
| DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome C Canzonetta, C Mulligan, S Deutsch, S Ruf, A O'Doherty, R Lyle, C Borel, ... The American Journal of Human Genetics 83 (3), 388-400, 2008 | 175 | 2008 |
| SAR11 bacteria linked to ocean anoxia and nitrogen loss D Tsementzi, J Wu, S Deutsch, S Nath, LM Rodriguez-R, AS Burns, ... Nature 536 (7615), 179-183, 2016 | 152 | 2016 |
| Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes S Deutsch, R Lyle, ET Dermitzakis, H Attar, L Subrahmanyan, C Gehrig, ... Human molecular genetics 14 (23), 3741-3749, 2005 | 141 | 2005 |
| Lessons from Two Design–Build–Test–Learn Cycles of Dodecanol Production in Escherichia coli Aided by Machine Learning P Opgenorth, Z Costello, T Okada, G Goyal, Y Chen, J Gin, V Benites, ... ACS synthetic biology 8 (6), 1337-1351, 2019 | 132 | 2019 |
| A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome PL Pereira, L Magnol, I Sahun, V Brault, A Duchon, P Prandini, A Gruart, ... Human molecular genetics 18 (24), 4756-4769, 2009 | 131 | 2009 |
| Detection of aneuploidies by paralogous sequence quantification S Deutsch, U Choudhury, G Merla, C Howald, A Sylvan, SE Antonarakis Journal of medical genetics 41 (12), 908-915, 2004 | 125 | 2004 |
| Chemical synthesis rewriting of a bacterial genome to achieve design flexibility and biological functionality JE Venetz, L Del Medico, A Wölfle, P Schächle, Y Bucher, D Appert, ... Proceedings of the National Academy of Sciences 116 (16), 8070-8079, 2019 | 111 | 2019 |
| Association of the connexin36 gene with juvenile myoclonic epilepsy C Mas, N Taske, S Deutsch, M Guipponi, P Thomas, A Covanis, M Friis, ... Journal of medical genetics 41 (7), e93-e93, 2004 | 110 | 2004 |
| Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin O Menzel, RCJ Bekkeheien, A Reymond, N Fukai, E Boye, G Kosztolanyi, ... Human mutation 23 (1), 77-84, 2004 | 109 | 2004 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
