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LabMedMolGe - Team

Sonia Amabile

Roberta Tarallo

e-mail: sonia.amabile@gmail.com

 

Laurea in Medicina e Chirurgia, Università degli studi di Siena (2011)

 

Dottorato in Genetica Oncologia e Medicina Clinica, Università degli studi di Siena (2015)


Specializzazione in Genetica Medica (cum laude), Università Federico II di Napoli (2019)

 

Borsista: per l’implementazione della Rete Oncologica Campana in ambito aziendale presso AOU SS Giovanni di Dio e Ruggi d'Aragona (Settembre 2020 - in corso). 

 

 

Pubblicazioni:

  • Amabile S, Jeffries L, McGrath JM, Ji W, Spencer-Manzon M, Zhang H, Lakhani SA. DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020 Sep;182(9):2049-2057. doi: 10.1002/ajmg.a.61729. Epub 2020 Jul 13. PMID: 32656949.
  • De Falco L, Savarese G, Suero T, Amabile S, Ruggiero R, Savarese P, Fico A. Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing. Clin Case Rep. 2019 Sep 7;7(10):1977-1981. doi: 10.1002/ccr3.2389. PMID: 31624621; PMCID: PMC6787777.
  • Landucci E, Brindisi M, Bianciardi L, Catania LM, Daga S, Croci S, Frullanti E, Fallerini C, Butini S, Brogi S, Furini S, Melani R, Molinaro A, Lorenzetti FC, Imperatore V, Amabile S, Mariani J, Mari F, Ariani F, Pizzorusso T, Pinto AM, Vaccarino FM, Renieri A, Campiani G, Meloni I. iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome. Exp Cell Res. 2018 Jul 15;368(2):225-235. doi: 10.1016/j.yexcr.2018.05.001. Epub 2018 May 4. PMID: 29730163.
  • Falco M, Amabile S, Acquaviva F. RAI1 gene mutations: mechanisms of Smith-Magenis syndrome. Appl Clin Genet. 2017 Nov 3;10:85-94. doi: 10.2147/TACG.S128455. PMID: 29138588; PMCID: PMC5680963.
  • Patriarchi T, Amabile S, Frullanti E, Landucci E, Lo Rizzo C, Ariani F, Costa M, Olimpico F, W Hell J, M Vaccarino F, Renieri A, Meloni I. Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice. Eur J Hum Genet. 2016 Jun;24(6):871-80. doi: 10.1038/ejhg.2015.216. Epub 2015 Oct 7. PMID: 26443267; PMCID: PMC4820038.
  • Frullanti E, Amabile S, Lolli MG, Bartolini A, Livide G, Landucci E, Mari F, Vaccarino FM, Ariani F, Massimino L, Renieri A, Meloni I. Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice. Eur J Hum Genet. 2016 Feb;24(2):252-7. doi: 10.1038/ejhg.2015.79. Epub 2015 May 13. PMID: 25966633; PMCID: PMC4717204.
  • Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Calcagno E, Lo Rizzo C, De Falco G, Ulivieri C, Ariani F, Mari F, Mencarelli MA, Hell JW, Renieri A, Meloni I. GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. Eur J Hum Genet. 2015 Feb;23(2):195-201. doi: 10.1038/ejhg.2014.81. Epub 2014 Jun 11. PMID: 24916645; PMCID: PMC4172451.
  • Signorini C, Leoncini S, De Felice C, Pecorelli A, Meloni I, Ariani F, Mari F, Amabile S, Paccagnini E, Gentile M, Belmonte G, Zollo G, Valacchi G, Durand T, Galano JM, Ciccoli L, Renieri A, Hayek J. Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome. Oxid Med Cell Longev. 2014;2014:195935. doi: 10.1155/2014/195935. Epub 2014 May 29. PMID: 24987493; PMCID: PMC4060159.
  • Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. PMID: 24700646.