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Journal Article
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.
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.
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.
Ura B, Scrimin F, Arrigoni G, Aloisio M, Monasta L, Ricci G. Dysregulated chaperones associated with cell proliferation and negative apoptosis regulation in the uterine leiomyoma. Oncol Lett 2018;15(5):8005-8010.
Bucci S, Umari P, Rizzo M, Pavan N, Liguori G, Barbone F, Trombetta C. Emergency extracorporeal shockwave lithotripsy as opposed to delayed shockwave lithotripsy for the treatment of acute renal colic due to obstructive ureteral stone: a prospective randomized trial. Minerva Urol Nefrol 2018;70(5):526-533.
Byrne S, Jansen L, U-King-Im J-M, Siddiqui A, Lidov HGW, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Thihli KAl, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CMarques, Pilz DT, Kamath A, Prabhakar P, Rao VK, R Rogers C, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016;139(Pt 3):765-81.
Ruperto N, Ozen S, Pistorio A, Dolezalova P, Brogan P, Cabral DA, Cuttica R, Khubchandani R, Lovell DJ, O'Neil KM, Quartier P, Ravelli A, Iusan SM, Filocamo G, Magalhães CSaad, Unsal E, Oliveira S, Bracaglia C, Bagga A, Stanevicha V, Manzoni SMagni, Pratsidou P, Lepore L, Espada G, Kone-Paut I, Paut IKone, Zulian F, Barone P, Bircan Z, Maldonado Mdel Rocio, Russo R, Vilca I, Tullus K, Cimaz R, Horneff G, Anton J, Garay S, Nielsen S, Barbano G, Martini A. EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part I: Overall methodology and clinical characterisation. Ann Rheum Dis 2010;69(5):790-7.
Ravera S, Dufour C, Cesaro S, Bottega R, Faleschini M, Cuccarolo P, Corsolini F, Usai C, Columbaro M, Cipolli M, Savoia A, Degan P, Cappelli E. Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. Sci Rep 2016;6:25441.
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.
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.

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