Genomes and Genes
Federico A Santoni
Affiliation: University of Geneva
- TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasmAlberto De Iaco
Department of Microbiology and Molecular Medicine, University of Geneva, 1205, Geneva, Switzerland
Retrovirology 10:20. 2013..Yet, an equal number of investigators have failed to obtain evidence that supports this model. Here, a series of experiments were performed to better elucidate the mechanism by which TNPO3 promotes HIV-1 infectivity...
- EMdeCODE: a novel algorithm capable of reading words of epigenetic code to predict enhancers and retroviral integration sites and to identify H3R2me1 as a distinctive mark of coding versus non-coding genesFederico Andrea Santoni
Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva 4, Switzerland
Nucleic Acids Res 41:e48. 2013..Indeed EMdeCODE identifies unexpected epigenetic profiles specific for coding versus non-coding RNA, pointing towards a new role for H3R2me1 in coding regions...
- HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotencyFederico A Santoni
Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
Retrovirology 9:111. 2012....
- Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis
Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
Hum Mutat 35:1203-10. 2014....
- Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni
Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland
Genome Res 24:349-55. 2014..Our results demonstrate that VariantMaster is considerably more accurate in terms of precision and sensitivity compared with previously published algorithms. ..
- Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui
Stem Cell Research Laboratory Department of Obstetrics and Gynecology, Geneva University Hospitals, Geneva, Switzerland
EMBO Mol Med 6:259-77. 2014..Importantly, we found that targeting DYRK1A pharmacologically or by shRNA results in a considerable correction of these defects. ..
- TRIM5 is an innate immune sensor for the retrovirus capsid latticeThomas Pertel
Department of Microbiology and Molecular Medicine, University of Geneva, Geneva CH 1211, Switzerland
Nature 472:361-5. 2011....
- Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genesMichel Guipponi
Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Switzerland
PLoS ONE 9:e112745. 2014..Overall, this study provides a list of 18 putative candidate genes for sporadic SCZ, and when combined with the results of similar reports, identifies a second proband carrying a non-synonymous DNV in the RGS12 gene...
- The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndromeM Reza Sailani
Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland
Genome Res 23:1410-21. 2013..In addition, a yet-unidentified genetic variation in the rest of the genome may contribute to this complex genetic architecture. ..