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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,
Gratacňs 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
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