Federico A Santoni

Summary

Affiliation: University of Geneva
Country: Switzerland

Publications

  1. doi request reprint CATCHing putative causative variants in consanguineous families
    Federico Andrea Santoni
    Department of Genetic Medicine and Development, University of Geneva, Rue Michel Servet 1, Geneva, Switzerland
    BMC Bioinformatics 16:310. 2015
  2. pmc TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm
    Alberto De Iaco
    Department of Microbiology and Molecular Medicine, University of Geneva, 1205, Geneva, Switzerland
    Retrovirology 10:20. 2013
  3. pmc 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 genes
    Federico Andrea Santoni
    Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva 4, Switzerland
    Nucleic Acids Res 41:e48. 2013
  4. pmc HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency
    Federico A Santoni
    Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
    Retrovirology 9:111. 2012
  5. doi request reprint DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
    M Reza Sailani
    Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland National Center of Competence in Research Frontiers in Genetics Program, University of Geneva, Geneva, Switzerland
    PLoS ONE 10:e0135555. 2015
  6. pmc Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
    Federico A Santoni
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland
    Genome Res 24:349-55. 2014
  7. doi request reprint Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families
    Periklis 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
  8. pmc The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    M Reza Sailani
    Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland
    Genome Res 23:1410-21. 2013
  9. pmc Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
    Youssef Hibaoui
    Stem Cell Research Laboratory Department of Obstetrics and Gynecology, Geneva University Hospitals, Geneva, Switzerland
    EMBO Mol Med 6:259-77. 2014
  10. pmc TRIM5 is an innate immune sensor for the retrovirus capsid lattice
    Thomas Pertel
    Department of Microbiology and Molecular Medicine, University of Geneva, Geneva CH 1211, Switzerland
    Nature 472:361-5. 2011

Collaborators

Detail Information

Publications11

  1. doi request reprint CATCHing putative causative variants in consanguineous families
    Federico Andrea Santoni
    Department of Genetic Medicine and Development, University of Geneva, Rue Michel Servet 1, Geneva, Switzerland
    BMC Bioinformatics 16:310. 2015
    ..Nowadays advances in High Throughput Sequencing provide an excellent opportunity to achieve a molecular diagnosis or to identify novel candidate genes...
  2. pmc TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm
    Alberto 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...
  3. pmc 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 genes
    Federico 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...
  4. pmc HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency
    Federico A Santoni
    Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
    Retrovirology 9:111. 2012
    ....
  5. doi request reprint DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
    M Reza Sailani
    Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland National Center of Competence in Research Frontiers in Genetics Program, University of Geneva, Geneva, Switzerland
    PLoS ONE 10:e0135555. 2015
    ..Altogether, the results of this study highlight the epigenetic effects of the extra chromosome 21 in T21 on loci outside of this chromosome that are relevant to DS associated phenotypes. ..
  6. pmc Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
    Federico 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. ..
  7. doi request reprint Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families
    Periklis 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
    ....
  8. pmc The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    M 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. ..
  9. pmc Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
    Youssef 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. ..
  10. pmc TRIM5 is an innate immune sensor for the retrovirus capsid lattice
    Thomas Pertel
    Department of Microbiology and Molecular Medicine, University of Geneva, Geneva CH 1211, Switzerland
    Nature 472:361-5. 2011
    ....
  11. pmc Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes
    Michel 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...