The University of Siena PhD Course in
Genetics, Oncology and Clinical Medicine


PhD Graduate

Vittoria DISCIGLIO 

PhD Program years: 2008 - 2012




PUBLICATIONS DURING THE PHD PROGRAM
    1) p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
    Epistolato MC, Disciglio V, Livide G, Berchialla P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De Francesco S, Acquaviva A, Toti P, Cetta F, Ariani F, De Marchi M, Renieri A, Giachino D.
    J Hum Genet. 2011 Sep;56(9):685-6.

    2) iPS cells to model CDKL5-related disorders.
    Amenduni M, De Filippis R, Cheung AY, Disciglio V, Epistolato MC, Ariani F, Mari F, Mencarelli MA, Hayek Y, Renieri A, Ellis J, Meloni I.
    Eur J Hum Genet. 2011 Dec;19(12):1246-55. doi: 10.1038/ejhg.2011.131. Epub 2011 Jul 13.

    3) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
    Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.
    Nature. 2011 Aug 31;478(7367):97-102.

    4) Investigation of modifier genes within copy number variations in Rett syndrome.
    Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F.
    J Hum Genet. 2011 Jul;56(7):508-15.

    5) Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.
    Livide G, Epistolato MC, Amenduni M, Disciglio V, Marozza A, Mencarelli MA, Toti P, Lazzi S, Hadjistilianou T, De Francesco S, D'Ambrosio A, Renieri A, Ariani F.
    Pathol Oncol Res. 2012 Jul;18(3):703-12.

    6) Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
    Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA.
    Eur J Med Genet. 2012 Jun;55(6-7):404-13.

    7) Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
    Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R.
    Am J Med Genet A. 2012 Jul;158A(7):1793-7.

    8) A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
    Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA,Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A,Beckmann JS, Chung WK, Jacquemont S; Collaborators (150) Addor MC, Arveiler B, Belfiore M, Bena F, Bernardini L, Blanchet P, Bonneau D, Boute O, Callier P, Campion D, Chiesa J, Cordier MP,Cuisset JM, David A, de Leeuw N, de Vries B, Didelot G, Doco-Fenzy M, Bedu BD, Dubourg C, Dupuis-Girod S, Fagerberg CR, Faivre L, Fellmann F, Fernandez BA, Fisher R, Flori E, Goldenberg A,Heron D, Holder M, Hoyer J, Isidor B, Jaillard S, Jonveaux P, Joriot S, Journel H, Kooy F, le Caignec C, Leheup B, Lemaitre MP, Lewis S, Malan V, Mathieu-Dramard M, Metspalu A, Morice-Picard F, Mucciolo M, Oiglane-Shlik E, Ounap K, Pasquier L, Petit F, Philippe A, Plessis G, Prieur F, Puechberty J, Rajcan-Separovic E, Rauch A, Renieri A, Rieubland C, Rooryck C, Rötzer KM, Ruiter M,Sanlaville D, Selmoni S, Shen Y, Siffredi V, Thonney J, Vallée L, van Binsbergen E, Van der Aa N, van Haelst MM, Vigneron J, Vincent-Delorme C, Disciglio V, Vulto-van Silfhout AT, Witwicki RM,Zwolinski SA, Bowe A, Beaudet AL, Brewton CM, Chu Z, Dempsey AG, Evans YL, Garza S, Kanne SM, Laakman AL, Lasala MW, Llorens AV, Marzano G, Moss TJ, Nowell KP, Proud MB, Chen Q,Vaughan R, Berman J, Blaskey L, Hines K, Kessler S, Khan SY, Qasmieh S, Bibb AL, Paal AM, Page PZ, Smith-Packard B, Buckner R, Burko J, Cavanagh AL, Cerban B, Snow AV, Snyder LG, Keehn RM,Miller DT, Miller FK, Olson JE, Triantafallou C, Visyak N, Atwell C, Benedetti M, Fischbach GD, Greenup M, Packer A, Bukshpun P, Cheong M, Dale C, Gobuty SE, Hinkley L, Jeremy RJ, Lee H, Luks TL, Marco EJ, Martin AJ, McGovern KE, Nagarajan SS, Owen J, Paul BM, Pojman NJ, Sinha T, Swarnakar V, Wakahiro M, Alupay H, Aaronson B, Ackerman S, Ankenman K, Elgin J, Gerdts J, Johnson K,Reilly B, Shaw D, Stevens A, Ward T, Wenegrat J.
    J Med Genet. 2012 Oct;49(10):660-8.

    9) Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.
    Disciglio V, Rizzo CL, 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.
    Am J Med Genet A. 2014 Jul;164(7):1666-76

    10) A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.
    Frigerio S, Disciglio V, Manoukian S, Peissel B, Della Torre G, Maurichi A, Collini P, Pasini B, Gotti G, Ferrari A, Rivoltini L, Massimino M, Rodolfo M.
    BMC Med Genet. 2014 May 17;15:59.

    11) Identification of a gene expression driven progression pathway in myxoid liposarcoma.
    De Cecco L, Negri T, Brich S, Mauro V, Bozzi F, Dagrada G.P, Disciglio V, Sanfilippo R, Gronchi A, D’Incalci M, Casali P.G., Canevari S , Pierotti M.A. and Pilotti S.
    Oncotarget May 2014

ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM


1) Sindromi emergenti da microdelezioni. ( SIGU 2009, Torino, 8-11 novembre 2009)

2) Sindrome emegente da microdelezione 14q32.31-qter: descizione di due nuovi casi e revisione della letteratura. ( SIGU 2009, Torino, 8-11 novembre 2009)

3) Dissecting the 13q14 microdeletion syndrome to define the critical region for mental retardation. (ASHG 2009, Honolulu, Hawaii, USA, 20-24 ottobre 2009)

4) Array-CGH analysis in a cohort of 200 patients: the importance of parents investigation and analysis of surrounding genes. (DECIPHER 2009, Hinxston, Cambridge, UK, 20-22 maggio 2009)

5) Array-CGH analysis to identify novel microdeletion/duplication syndromes and to extend the clinical phenotype associated with susceptibility regions. ( ASHG 2009, Honolulu, Hawaii, USA, 20-24 ottobre 2009)

6) Array-CGH analysis of two hundred patients with parents investigation and analysis of surrounding genes. (Troina, 17-18 Aprile 2009)

7) MDM2 and p53 are modifier gene of retinoblastoma (ESHG 2010, Gothenburg, Sweden, 12-15 giugno 2010)

8) Ruolo dei polimorfismi dei geni MDM2 (SNP309T>G) e TP53 (R72P) nella modulazione della variabilità fenotipica del retinoblastoma (SIGU 2010, Firenze, Italia, 14-17 ottobre 2010)

9) Copy Number Variations in Autism Spectrum Disorders (60th Annual Meeting American Society Human Genetics, Washington DC, USA, 2-6 novembre 2010)

10) Microriarrangiamenti in 95 pazienti con diagnosi di spettro autistico. (SIGU 2010, Firenze, Italia, 14-17 ottobre 2010)

11) Clinical signs, disease categories and CNVs
(Decipher Symposium 2011)

ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
    Université de Lausanne, Dep. Pediatrics of Hospital in Lausanne, Switzerland
    three months: June-August 2012