1
Gorski M, van der Most PJ, Teumer A, Chu AY, Li M, Mijatovic V, Nolte IM, Cocca M, Taliun D, Gomez F, Li Y, Tayo B, Tin A, Feitosa MF, Aspelund T, Attia J, Biffar R, Bochud M, Boerwinkle E, Borecki I, Bottinger EP, Chen M-H, Chouraki V, Ciullo M, Coresh J, Cornelis MC, Curhan GC, d'Adamo APio, Dehghan A, Dengler L, Ding J, Eiriksdottir G, Endlich K, Enroth S, Esko T, Franco OH, Gasparini P, Gieger C, Girotto G, Gottesman O, Gudnason V, Gyllensten U, Hancock SJ, Harris TB, Helmer C, Höllerer S, Hofer E, Hofman A, Holliday EG, Homuth G, Hu FB, Huth C, Hutri-Kähönen N, Hwang S-J, Imboden M, Johansson Å, Kähönen M, König W, Kramer H, Krämer BK, Kumar A, Kutalik Z, Lambert J-C, Launer LJ, Lehtimäki T, de Borst M, Navis G, Swertz M, Liu Y, Lohman K, Loos RJF, Lu Y, Lyytikäinen L-P, McEvoy MA, Meisinger C, Meitinger T, Metspalu A, Metzger M, Mihailov E, Mitchell P, Nauck M, Oldehinkel AJ, Olden M, Penninx BWjh, Pistis G, Pramstaller PP, Probst-Hensch N, Raitakari OT, Rettig R, Ridker PM, Rivadeneira F, Robino A, Rosas SE, Ruderfer D, Ruggiero D, Saba Y, Sala C, Schmidt H, Schmidt R, Scott RJ, Sedaghat S, Smith AV, Sorice R, Stengel B, Stracke S, Strauch K, Toniolo D, Uitterlinden AG, Ulivi S, Viikari JS, Völker U, Vollenweider P, Völzke H, Vuckovic D, Waldenberger M, Wang JJin, Yang Q, Chasman DI, Tromp G, Snieder H, Heid IM, Fox CS, Köttgen A, Pattaro C, Böger CA, Fuchsberger C. 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep 2017;7:45040.
A
Mezzavilla M, Ulivi S, La Bianca M, Carlino D, Gasparini P, Robino A. Analysis of functional variants reveals new candidate genes associated with alexithymia. Psychiatry Res 2015;227(2-3):363-5.
Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikäinen L-P, Nutile T, Sedaghat S, Sorice R, Tin A, Yang Q, Ahluwalia TS, Arking DE, Bihlmeyer NA, Böger CA, Carroll RJ, Chasman DI, Cornelis MC, Dehghan A, Faul JD, Feitosa MF, Gambaro G, Gasparini P, Giulianini F, Heid I, Huang J, Imboden M, Jackson AU, Jeff J, Jhun MA, Katz R, Kifley A, Kilpeläinen TO, Kumar A, Laakso M, Li-Gao R, Lohman K, Lu Y, Mägi R, Malerba G, Mihailov E, Mohlke KL, Mook-Kanamori DO, Robino A, Ruderfer D, Salvi E, Schick UM, Schulz C-A, Smith AV, Smith JA, Traglia M, Yerges-Armstrong LM, Zhao W, Goodarzi MO, Kraja AT, Liu C, Wessel J, Boerwinkle E, Borecki IB, Bork-Jensen J, Bottinger EP, Braga D, Brandslund I, Brody JA, Campbell A, Carey DJ, Christensen C, Coresh J, Crook E, Curhan GC, Cusi D, de Boer IH, de Vries APJ, Denny JC, Devuyst O, Dreisbach AW, Endlich K, Esko T, Franco OH, Fulop T, Gerhard GS, Glümer C, Gottesman O, Grarup N, Gudnason V, Hansen T, Harris TB, Hayward C, Hocking L, Hofman A, Hu FB, Husemoen LLotte N, Jackson RD, Jørgensen T, Jørgensen ME, Kähönen M, Kardia SLR, König W, Kooperberg C, Kriebel J, Launer LJ, Lauritzen T, Lehtimäki T, Levy D, Linksted P, Linneberg A, Liu Y, Loos RJF, Lupo A, Meisinger C, Melander O, Metspalu A, Mitchell P, Nauck M, Nürnberg P, Orho-Melander M, Parsa A, Pedersen O, Peters A, Peters U, Polasek O, Porteous D, Probst-Hensch NM, Psaty BM, Qi L, Raitakari OT, Reiner AP, Rettig R, Ridker PM, Rivadeneira F, Rossouw JE, Schmidt F, Siscovick D, Soranzo N, Strauch K, Toniolo D, Turner ST, Uitterlinden AG, Ulivi S, Velayutham D, Völker U, Völzke H, Waldenberger M, Wang JJin, Weir DR, Witte D, Kuivaniemi H, Fox CS, Franceschini N, Goessling W, Köttgen A, Chu AY. and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol 2017;28(3):981-994.
Sorice R, Bione S, Sansanelli S, Ulivi S, Athanasakis E, Lanzara C, Nutile T, Sala C, Camaschella C, d'Adamo P, Gasparini P, Ciullo M, Toniolo D. Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet 2011;19(5):593-6.
B
Carlino D, Francavilla R, Baj G, Kulak K, d'Adamo P, Ulivi S, Cappellani S, Gasparini P, Tongiorgi E. Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism. PeerJ 2015;3:e1252.
C
Corre T, Olinger E, Harris SE, Traglia M, Ulivi S, Lenarduzzi S, Belge H, Youhanna S, Tokonami N, Bonny O, Houillier P, Polasek O, Deary IJ, Starr JM, Toniolo D, Gasparini P, Vollenweider P, Hayward C, Bochud M, Devuyst O. Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine. Pflugers Arch 2017;469(1):91-103.
Olden M, Corre T, Hayward C, Toniolo D, Ulivi S, Gasparini P, Pistis G, Hwang S-J, Bergmann S, Campbell H, Cocca M, Gandin I, Girotto G, Glaudemans B, Hastie ND, Loffing J, Polasek O, Rampoldi L, Rudan I, Sala C, Traglia M, Vollenweider P, Vuckovic D, Youhanna S, Weber J, Wright AF, Kutalik Z, Bochud M, Fox CS, Devuyst O. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. J Am Soc Nephrol 2014;25(8):1869-82.
D
Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, Concas MPina, Franceschini N, Enroth S, Vitart V, Trompet S, Guo X, Chasman DI, O'Connel JR, Corre T, Nongmaithem SS, Chen Y, Mangino M, Ruggiero D, Traglia M, Farmaki A-E, Kacprowski T, Bjonnes A, van der Spek A, Wu Y, Giri AK, Yanek LR, Wang L, Hofer E, Rietveld CA, McLeod O, Cornelis MC, Pattaro C, Verweij N, Baumbach C, Abdellaoui A, Warren HR, Vuckovic D, Mei H, Bouchard C, Perry JRB, Cappellani S, Mirza SS, Benton MC, Broeckel U, Medland SE, Lind PA, Malerba G, Drong A, Yengo L, Bielak LF, Zhi D, van der Most PJ, Shriner D, Mägi R, Hemani G, Karaderi T, Wang Z, Liu T, Demuth I, Zhao JHua, Meng W, Lataniotis L, van der Laan SW, Bradfield JP, Wood AR, Bonnefond A, Ahluwalia TS, Hall LM, Salvi E, Yazar S, Carstensen L, de Haan HG, Abney M, Afzal U, Allison MA, Amin N, Asselbergs FW, Bakker SJL, R Barr G, Baumeister SE, Benjamin DJ, Bergmann S, Boerwinkle E, Bottinger EP, Campbell A, Chakravarti A, Chan Y, Chanock SJ, Chen C, Chen Y-DIda, Collins FS, Connell J, Correa A, L Cupples A, Smith GDavey, Davies G, Dörr M, Ehret G, Ellis SB, Feenstra B, Feitosa MF, Ford I, Fox CS, Frayling TM, Friedrich N, Geller F, Scotland G, Gillham-Nasenya I, Gottesman O, Graff M, Grodstein F, Gu C, Haley C, Hammond CJ, Harris SE, Harris TB, Hastie ND, Heard-Costa NL, Heikkilä K, Hocking LJ, Homuth G, Hottenga J-J, Huang J, Huffman JE, Hysi PG, M Ikram A, Ingelsson E, Joensuu A, Johansson Å, Jousilahti P, J Jukema W, Kähönen M, Kamatani Y, Kanoni S, Kerr SM, Khan NM, Koellinger P, Koistinen HA, Kooner MK, Kubo M, Kuusisto J, Lahti J, Launer LJ, Lea RA, Lehne B, Lehtimäki T, Liewald DCM, Lind L, Loh M, Lokki M-L, London SJ, Loomis SJ, Loukola A, Lu Y, Lumley T, Lundqvist A, Männistö S, Marques-Vidal P, Masciullo C, Matchan A, Mathias RA, Matsuda K, Meigs JB, Meisinger C, Meitinger T, Menni C, Mentch FD, Mihailov E, Milani L, Montasser ME, Montgomery GW, Morrison A, Myers RH, Nadukuru, iv R, Navarro P, Nelis M, Nieminen MS, Nolte IM, O'Connor GT, Ogunniyi A, Padmanabhan S, Palmas WR, Pankow JS, Patarcic I, Pavani F, Peyser PA, Pietilainen K, Poulter N, Prokopenko I, Ralhan S, Redmond P, Rich SS, Rissanen H, Robino A, Rose LM, Rose R, Sala C, Salako B, Salomaa V, Sarin A-P, Saxena R, Schmidt H, Scott LJ, Scott WR, Sennblad B, Seshadri S, Sever P, Shrestha S, Smith BH, Smith JA, Soranzo N, Sotoodehnia N, Southam L, Stanton AV, Stathopoulou MG, Strauch K, Strawbridge RJ, Suderman MJ, Tandon N, Tang S-T, Taylor KD, Tayo BO, Töglhofer AMaria, Tomaszewski M, Tšernikova N, Tuomilehto J, Uitterlinden AG, Vaidya D, Vlieg Avan Hylcka, van Setten J, Vasankari T, Vedantam S, Vlachopoulou E, Vozzi D, Vuoksimaa E, Waldenberger M, Ware EB, Wentworth-Shields W, Whitfield JB, Wild S, Willemsen G, Yajnik CS, Yao J, Zaza G, Zhu X, Salem RM, Melbye M, Bisgaard H, Samani NJ, Cusi D, Mackey DA, Cooper RS, Froguel P, Pasterkamp G, Grant SFA, Hakonarson H, Ferrucci L, Scott RA, Morris AD, Palmer CNA, Dedoussis G, Deloukas P, Bertram L, Lindenberger U, Berndt SI, Lindgren CM, Timpson NJ, Tönjes A, Munroe PB, Sørensen TIA, Rotimi CN, Arnett DK, Oldehinkel AJ, Kardia SLR, Balkau B, Gambaro G, Morris AP, Eriksson JG, Wright MJ, Martin NG, Hunt SC, Starr JM, Deary IJ, Griffiths LR, Tiemeier H, Pirastu N, Kaprio J, Wareham NJ, Pérusse L, Wilson JG, Girotto G, Caulfield MJ, Raitakari O, Boomsma DI, Gieger C, van der Harst P, Hicks AA, Kraft P, Sinisalo J, Knekt P, Johannesson M, Magnusson PKE, Hamsten A, Schmidt R, Borecki IB, Vartiainen E, Becker DM, Bharadwaj D, Mohlke KL, Boehnke M, van Duijn CM, Sanghera DK, Teumer A, Zeggini E, Metspalu A, Gasparini P, Ulivi S, Ober C, Toniolo D, Rudan I, Porteous DJ, Ciullo M, Spector TD, Hayward C, Dupuis J, Loos RJF, Wright AF, Chandak GR, Vollenweider P, Shuldiner AR, Ridker PM, Rotter JI, Sattar N, Gyllensten U, North KE, Pirastu M, Psaty BM, Weir DR, Laakso M, Gudnason V, Takahashi A, Chambers JC, Kooner JS, Strachan DP, Campbell H, Hirschhorn JN, Perola M, Polasek O, Wilson JF. Directional dominance on stature and cognition in diverse human populations. Nature 2015;523(7561):459-62.
Perry JRB, Hsu Y-H, Chasman DI, Johnson AD, Elks C, Albrecht E, Andrulis IL, Beesley J, Berenson GS, Bergmann S, Bojesen SE, Bolla MK, Brown J, Buring JE, Campbell H, Chang-Claude J, Chenevix-Trench G, Corre T, Couch FJ, Cox A, Czene K, d'Adamo APio, Davies G, Deary IJ, Dennis J, Easton DF, Engelhardt EG, Eriksson JG, Esko T, Fasching PA, Figueroa JD, Flyger H, Fraser A, Garcia-Closas M, Gasparini P, Gieger C, Giles G, Guenel P, Hägg S, Hall P, Hayward C, Hopper J, Ingelsson E, Kardia SLR, Kasiman K, Knight JA, Lahti J, Lawlor DA, Magnusson PKE, Margolin S, Marsh JA, Metspalu A, Olson JE, Pennell CE, Polasek O, Rahman I, Ridker PM, Robino A, Rudan I, Rudolph A, Salumets A, Schmidt MK, Schoemaker MJ, Smith EN, Smith JA, Southey M, Stöckl D, Swerdlow AJ, Thompson DJ, Truong T, Ulivi S, Waldenberger M, Wang Q, Wild S, Wilson JF, Wright AF, Zgaga L, Ong KK, Murabito JM, Karasik D, Murray A. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Hum Mol Genet 2014;23(9):2490-7.
E
McQuillan R, Eklund N, Pirastu N, Kuningas M, McEvoy BP, Esko T, Corre T, Davies G, Kaakinen M, Lyytikäinen L-P, Kristiansson K, Havulinna AS, Gögele M, Vitart V, Tenesa A, Aulchenko, ii Y, Hayward C, Johansson Å, Boban M, Ulivi S, Robino A, Boraska V, Igl W, Wild SH, Zgaga L, Amin N, Theodoratou E, Polasek O, Girotto G, Lopez LM, Sala C, Lahti J, Laatikainen T, Prokopenko I, Kals M, Viikari J, Yang J, Pouta A, Estrada K, Hofman A, Freimer N, Martin NG, Kähönen M, Milani L, Heliövaara M, Vartiainen E, Räikkönen K, Masciullo C, Starr JM, Hicks AA, Esposito L, Kolcic I, Farrington SM, Oostra B, Zemunik T, Campbell H, Kirin M, Pehlic M, Faletra F, Porteous D, Pistis G, Widen E, Salomaa V, Koskinen S, Fischer K, Lehtimäki T, Heath A, McCarthy MI, Rivadeneira F, Montgomery GW, Tiemeier H, Hartikainen A-L, Madden PAF, d'Adamo P, Hastie ND, Gyllensten U, Wright AF, van Duijn CM, Dunlop M, Rudan I, Gasparini P, Pramstaller PP, Deary IJ, Toniolo D, Eriksson JG, Jula A, Raitakari OT, Metspalu A, Perola M, Järvelin M-R, Uitterlinden A, Visscher PM, Wilson JF. Evidence of inbreeding depression on human height. PLoS Genet 2012;8(7):e1002655.
Prins BP, Mead TJ, Brody JA, Sveinbjornsson G, Ntalla I, Bihlmeyer NA, van den Berg M, Bork-Jensen J, Cappellani S, Van Duijvenboden S, Klena NT, Gabriel GC, Liu X, Gulec C, Grarup N, Haessler J, Hall LM, Iorio A, Isaacs A, Li-Gao R, Lin H, Liu C-T, Lyytikäinen L-P, Marten J, Mei H, Müller-Nurasyid M, Orini M, Padmanabhan S, Radmanesh F, Ramirez J, Robino A, Schwartz M, van Setten J, Smith AV, Verweij N, Warren HR, Weiss S, Alonso A, Arnar DO, Bots ML, de Boer RA, Dominiczak AF, Eijgelsheim M, Ellinor PT, Guo X, Felix SB, Harris TB, Hayward C, Heckbert SR, Huang PL, Jukema JW, Kähönen M, Kors JA, Lambiase PD, Launer LJ, Li M, Linneberg A, Nelson CP, Pedersen O, Perez M, Peters A, Polasek O, Psaty BM, Raitakari OT, Rice KM, Rotter JI, Sinner MF, Soliman EZ, Spector TD, Strauch K, Thorsteinsdottir U, Tinker A, Trompet S, Uitterlinden A, Vaartjes I, van der Meer P, Völker U, Völzke H, Waldenberger M, Wilson JG, Xie Z, Asselbergs FW, Dörr M, van Duijn CM, Gasparini P, Gudbjartsson DF, Gudnason V, Hansen T, Kääb S, Kanters JK, Kooperberg C, Lehtimäki T, Lin HJ, Lubitz SA, Mook-Kanamori DO, Conti FJ, Newton-Cheh CH, Rosand J, Rudan I, Samani NJ, Sinagra G, Smith BH, Holm H, Stricker BH, Ulivi S, Sotoodehnia N, Apte SS, van der Harst P, Stefansson K, Munroe PB, Arking DE, Lo CW, Jamshidi Y. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biol 2018;19(1):87.
G
O'Connell J, Gurdasani D, Delaneau O, Pirastu N, Ulivi S, Cocca M, Traglia M, Huang J, Huffman JE, Rudan I, McQuillan R, Fraser RM, Campbell H, Polasek O, Asiki G, Ekoru K, Hayward C, Wright AF, Vitart V, Navarro P, Zagury J-F, Wilson JF, Toniolo D, Gasparini P, Soranzo N, Sandhu MS, Marchini J. A general approach for haplotype phasing across the full spectrum of relatedness. PLoS Genet 2014;10(4):e1004234.