] Journal Article
Faletra F, d'Adamo APio, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, A Erzurumluoglu M, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, Verwoert GC, Hottenga J-J, Strawbridge RJ, Esko T, Arking DE, Hwang S-J, Guo X, Kutalik Z, Trompet S, Shrine N, Teumer A, Ried JS, Bis JC, Smith AV, Amin N, Nolte IM, Lyytikäinen L-P, Mahajan A, Wareham NJ, Hofer E, Joshi PK, Kristiansson K, Traglia M, Havulinna AS, Goel A, Nalls MA, Sõber S, Vuckovic D, Luan J'an, M Fdel Greco, Ayers KL, Marrugat J, Ruggiero D, Lopez LM, Niiranen T, Enroth S, Jackson AU, Nelson CP, Huffman JE, Zhang W, Marten J, Gandin I, Harris SE, Zemunik T, Lu Y, Evangelou E, Shah N, de Borst MH, Mangino M, Prins BP, Campbell A, Li-Gao R, Chauhan G, Oldmeadow C, Abecasis G, Abedi M, Barbieri CM, Barnes MR, Batini C, Beilby J, Blake T, Boehnke M, Bottinger EP, Braund PS, Brown M, Brumat M, Campbell H, Chambers JC, Cocca M, Collins F, Connell J, Cordell HJ, Damman JJ, Davies G, de Geus EJ, de Mutsert R, Deelen J, Demirkale Y, Doney ASF, Dörr M, Farrall M, Ferreira T, Frånberg M, Gao H, Giedraitis V, Gieger C, Giulianini F, Gow AJ, Hamsten A, Harris TB, Hofman A, Holliday EG, Hui J, Järvelin M-R, Johansson Å, Johnson AD, Jousilahti P, Jula A, Kähönen M, Kathiresan S, Khaw K-T, Kolcic I, Koskinen S, Langenberg C, Larson M, Launer LJ, Lehne B, Liewald DCM, Lin L, Lind L, Mach F, Mamasoula C, Menni C, Mifsud B, Milaneschi Y, Morgan A, Morris AD, Morrison AC, Munson PJ, Nandakumar P, Nguyen QTri, Nutile T, Oldehinkel AJ, Oostra BA, Org E, Padmanabhan S, Palotie A, Paré G, Pattie A, Penninx BWJH, Poulter N, Pramstaller PP, Raitakari OT, Ren M, Rice K, Ridker PM, Riese H, Ripatti S, Robino A, Rotter JI, Rudan I, Saba Y, Pierre ASaint, Sala CF, Sarin A-P, Schmidt R, Scott R, Seelen MA, Shields DC, Siscovick D, Sorice R, Stanton A, Stott DJ, Sundström J, Swertz M, Taylor KD, Thom S, Tzoulaki I, Tzourio C, Uitterlinden AG, Völker U, Vollenweider P, Wild S, Willemsen G, Wright AF, Yao J, Thériault S, Conen D, Attia J, Sever P, Debette S, Mook-Kanamori DO, Zeggini E, Spector TD, van der Harst P, Palmer CNA, Vergnaud A-C, Loos RJF, Polasek O, Starr JM, Girotto G, Hayward C, Kooner JS, Lindgren CM, Vitart V, Samani NJ, Tuomilehto J, Gyllensten U, Knekt P, Deary IJ, Ciullo M, Elosua R, Keavney BD, Hicks AA, Scott RA, Gasparini P, Laan M, Liu Y, Watkins H, Hartman CA, Salomaa V, Toniolo D, Perola M, Wilson JF, Schmidt H, Zhao JHua, Lehtimäki T, van Duijn CM, Gudnason V, Psaty BM, Peters A, Rettig R, James A, J Jukema W, Strachan DP, Palmas W, Metspalu A, Ingelsson E, Boomsma DI, Franco OH, Bochud M, Newton-Cheh C, Munroe PB, Elliott P, Chasman DI, Chakravarti A, Knight J, Morris AP, Levy D, Tobin MD, Snieder H, Caulfield MJ, Ehret GB. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension 2017;
Pirastu N, Kooyman M, Robino A, van der Spek A, Navarini L, Amin N, Karssen LC, van Duijn CM, Gasparini P. Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption. Sci Rep 2016;6:31590.
Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, Franzè A, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. Eur J Hum Genet 2019;27(1):70-79.
Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80.
Nalls MA, Couper DJ, Tanaka T, van Rooij FJA, Chen M-H, Smith AV, Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M, Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou V, Felix JF, Völzke H, Gouskova NA, Biffi A, Döring A, Völker U, Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C, Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL, L Cupples A, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T, Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M, Tönjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B, Mangino M, Oostra BA, Thein SLay, Coresh J, Wichmann H-E, Menzel S, Lin JP, Pistis G, Uitterlinden AG, Spector TD, Teumer A, Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E, Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JCM, Psaty BM, Ferrucci L, Harris TB, O'Donnell CJ, Ganesh SK. Multiple loci are associated with white blood cell phenotypes. PLoS Genet 2011;7(6):e1002113.
Martin HC, Christ R, Hussin JG, O'Connell J, Gordon S, Mbarek H, Hottenga J-J, McAloney K, Willemsen G, Gasparini P, Pirastu N, Montgomery GW, Navarro P, Soranzo N, Toniolo D, Vitart V, Wilson JF, Marchini J, Boomsma DI, Martin NG, Donnelly P. Multicohort analysis of the maternal age effect on recombination. Nat Commun 2015;6:7846.
Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One 2012;7(8):e43799.
Huffman JE, Albrecht E, Teumer A, Mangino M, Kapur K, Johnson T, Kutalik Z, Pirastu N, Pistis G, Lopez LM, Haller T, Salo P, Goel A, Li M, Tanaka T, Dehghan A, Ruggiero D, Malerba G, Smith AV, Nolte IM, Portas L, Phipps-Green A, Boteva L, Navarro P, Johansson Å, Hicks AA, Polasek O, Esko T, Peden JF, Harris SE, Murgia F, Wild SH, Tenesa A, Tin A, Mihailov E, Grotevendt A, Gislason GK, Coresh J, d'Adamo P, Ulivi S, Vollenweider P, Waeber G, Campbell S, Kolcic I, Fisher K, Viigimaa M, Metter JE, Masciullo C, Trabetti E, Bombieri C, Sorice R, Döring A, Reischl E, Strauch K, Hofman A, Uitterlinden AG, Waldenberger M, Wichmann H-E, Davies G, Gow AJ, Dalbeth N, Stamp L, Smit JH, Kirin M, Nagaraja R, Nauck M, Schurmann C, Budde K, Farrington SM, Theodoratou E, Jula A, Salomaa V, Sala C, Hengstenberg C, Burnier M, Mägi R, Klopp N, Kloiber S, Schipf S, Ripatti S, Cabras S, Soranzo N, Homuth G, Nutile T, Munroe PB, Hastie N, Campbell H, Rudan I, Cabrera C, Haley C, Franco OH, Merriman TR, Gudnason V, Pirastu M, Penninx BW, Snieder H, Metspalu A, Ciullo M, Pramstaller PP, van Duijn CM, Ferrucci L, Gambaro G, Deary IJ, Dunlop MG, Wilson JF, Gasparini P, Gyllensten U, Spector TD, Wright AF, Hayward C, Watkins H, Perola M, Bochud M, Kao WHLinda, Caulfield M, Toniolo D, Völzke H, Gieger C, Köttgen A, Vitart V. Modulation of genetic associations with serum urate levels by body-mass-index in humans. PLoS One 2015;10(3):e0119752.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga J-J, Kraft P, McArdle PF, Porcu E, Shin S-Y, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LBarac, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJC, Deary IJ, Dedoussis GVZ, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BCJM, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, A Janssens CJW, Johnson AD, Karasik D, Kardia SLR, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JSE, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PKE, Marongiu M, Martin NG, Klaric IMartinovic, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, N Onland-Moret C, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PHM, Pistis G, Plump AS, Polasek O, Pop VJM, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, H Wichmann E, Widen E, van Gent CJMWijnan, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, M Zillikens C, Zygmunt M, Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
Sung YJ, Winkler TW, Fuentes Lde Las, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I, Guo X, Franceschini N, Lu Y, Cheng C-Y, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Feitosa MF, Kilpeläinen TO, Richard MA, Noordam R, Aslibekyan S, Aschard H, Bartz TM, Dorajoo R, Liu Y, Manning AK, Rankinen T, Smith AVernon, Tajuddin SM, Tayo BO, Warren HR, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JFang, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FPires, Horimoto ARVR, Hsu F-C, Jackson AU, Kähönen M, Kasturiratne A, Kuhnel B, Leander K, Lee W-J, Lin K-H, Luan J'an, McKenzie CA, Meian H, Nelson CP, Rauramaa R, Schupf N, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JHua, Afaq S, Alfred T, Amin N, Arking D, Aung T, R Barr G, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cabrera CP, Cade B, Caizheng Y, Campbell A, Canouil M, Chakravarti A, Chauhan G, Christensen K, Cocca M, Collins FS, Connell JM, de Mutsert R, H de Silva J, Debette S, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Fisher VA, Forouhi NG, Franco OH, Friedlander Y, Gao H, Gigante B, Graff M, C Gu C, Gu D, Gupta P, Hagenaars SP, Harris TB, He J, Heikkinen S, Heng C-K, Hirata M, Hofman A, Howard BV, Hunt S, Irvin MR, Jia Y, Joehanes R, Justice AE, Katsuya T, Kaufman J, Kerrison ND, Khor CChuen, Koh W-P, Koistinen HA, Komulainen P, Kooperberg C, Krieger JE, Kubo M, Kuusisto J, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y, Lim SHui, Lin S, Liu C-T, Liu J, Liu J, Liu K, Liu Y, Loh M, Lohman KK, Long J, Louie T, Mägi R, Mahajan A, Meitinger T, Metspalu A, Milani L, Momozawa Y, Morris AP, Mosley TH, Munson P, Murray AD, Nalls MA, Nasri U, Norris JM, North K, Ogunniyi A, Padmanabhan S, Palmas WR, Palmer ND, Pankow JS, Pedersen NL, Peters A, Peyser PA, Polasek O, Raitakari OT, Renstrom F, Rice TK, Ridker PM, Robino A, Robinson JG, Rose LM, Rudan I, Sabanayagam C, Salako BL, Sandow K, Schmidt CO, Schreiner PJ, Scott WR, Seshadri S, Sever P, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Tang H, Taylor KD, Teo YYing, Tham YChung, Uitterlinden AG, Waldenberger M, Wang L, Wang YX, Bin Wei W, Williams C, Wilson G, Wojczynski MK, Yao J, Yuan J-M, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Chen Y-DIda, de Faire U, Deary IJ, Esko T, Farrall M, Forrester T, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BLessa, Hung Y-J, Jonas JB, Kato N, Kooner JS, Laakso M, Lehtimäki T, Liang K-W, Magnusson PKE, Newman AB, Oldehinkel AJ, Pereira AC, Redline S, Rettig R, Samani NJ, Scott J, Shu X-O, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Kamatani Y, Laurie CC, Bouchard C, Cooper RS, Evans MK, Gudnason V, Kardia SLR, Kritchevsky SB, Levy D, O'Connell JR, Psaty BM, van Dam RM, Sims M, Arnett DK, Mook-Kanamori DO, Kelly TN, Fox ER, Hayward C, Fornage M, Rotimi CN, Province MA, van Duijn CM, E Tai S, Wong TYin, Loos RJF, Reiner AP, Rotter JI, Zhu X, Bierut LJ, W Gauderman J, Caulfield MJ, Elliott P, Rice K, Munroe PB, Morrison AC, L Cupples A, Rao DC, Chasman DI. A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. Am J Hum Genet 2018;102(3):375-400.