Journal Article
Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki A-E, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin W-Y, Locke A, Luan J'an, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ, Burton P, Chambers JC, Smith GDavey, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG, Barroso I, Greenwood CMT, Perry JRB, Walker BR, Butterworth AS, Xue Y, Durbin R, Small KS, Soranzo N, Timpson NJ, Zeggini E. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet 2017;100(6):865-884.
Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P. Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genet 2011;32(4):256-8.
Robino A, Mezzavilla M, Pirastu N, La Bianca M, Gasparini P, Carlino D, Tepper BJ. Understanding the role of personality and alexithymia in food preferences and PROP taste perception. Physiol Behav 2016;157:72-8.
Fabretto A, Kutsche K, Harmsen M-B, Demarini S, Gasparini P, Fertz MCristina, Zenker M. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010;53(5):322-4.
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Alkowari MK, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, Logendra B, Najjar N, Gandin I, Gasparini P, Badii R, Girotto G, Abdulhadi K. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
Chinetti V, Iossa S, Auletta G, Laria C, De Luca M, Di Leva F, Riccardi P, Giannini P, Gasparini P, Ciccodicola A, Marciano E, Franzè A. Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. Int J Audiol 2010;49(4):326-31.
Wolber LE, Girotto G, Buniello A, Vuckovic D, Pirastu N, Lorente-Cánovas B, Rudan I, Hayward C, Polasek O, Ciullo M, Mangino M, Steves C, Concas MPina, Cocca M, Spector TD, Gasparini P, Steel KP, Williams FMK. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. Hum Mol Genet 2014;23(23):6407-18.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HMin, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GDavey, Dedoussis G, Dörr M, Farmaki A-E, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, J Richards B, Sala C, Salomaa V, Schlessinger D, Schoenherr S, P Slagboom E, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, van Rheenen W, Völker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PIW, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbin R. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet 2016;
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