LA BIANCA, MARTINA
LA BIANCA, MARTINA
Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute
Personale esterno ed autonomi
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
2019-01-01 Wuttke, M; Li, Y; Li, M; Sieber, Kb; Feitosa, Mf; Gorski, M; Tin, A; Wang, L; Chu, Ay; Hoppmann, A; Kirsten, H; Giri, A; Chai, Jf; Sveinbjornsson, G; Tayo, Bo; Nutile, T; Fuchsberger, C; Marten, J; Cocca, M; Ghasemi, S; Xu, Y; Horn, K; Noce, D; van der Most, Pj; Sedaghat, S; Yu, Z; Akiyama, M; Afaq, S; Ahluwalia, Ts; Almgren, P; Amin, N; Ärnlöv, J; Bakker, Sjl; Bansal, N; Baptista, D; Bergmann, S; Biggs, Ml; Biino, G; Boehnke, M; Boerwinkle, E; Boissel, M; Bottinger, Ep; Boutin, Ts; Brenner, H; Brumat, M; Burkhardt, R; Butterworth, As; Campana, Eric; Campbell, A; Campbell, H; Canouil, M; Carroll, Rj; Catamo, E; Chambers, Jc; Chee, Ml; Chee, Ml; Chen, X; Cheng, Cy; Cheng, Y; Christensen, K; Cifkova, R; Ciullo, M; Concas, Mp; Cook, Jp; Coresh, J; Corre, T; Sala, Cf; Cusi, D; Danesh, J; Daw, Ew; de Borst, Mh; De Grandi, A; de Mutsert, R; de Vries, Apj; Degenhardt, F; Delgado, G; Demirkan, A; Di Angelantonio, E; Dittrich, K; Divers, J; Dorajoo, R; Eckardt, Ku; Ehret, G; Elliott, P; Endlich, K; Evans, Mk; Felix, Jf; Foo, Vhx; Franco, Oh; Franke, A; Freedman, Bi; Freitag-Wolf, S; Friedlander, Y; Froguel, P; Gansevoort, Rt; Gao, H; Gasparini, P; Gaziano, Jm; Giedraitis, V; Gieger, C; Girotto, G; Giulianini, F; Gögele, M; Gordon, Sd; Gudbjartsson, Df; Gudnason, V; Haller, T; Hamet, P; Harris, Tb; Hartman, Ca; Hayward, C; Hellwege, Jn; Heng, Ck; Hicks, Aa; Hofer, E; Huang, W; Hutri-Kähönen, N; Hwang, Sj; Ikram, Ma; Indridason, Os; Ingelsson, E; Ising, M; Jaddoe, Vwv; Jakobsdottir, J; Jonas, Jb; Joshi, Pk; Josyula, Ns; Jung, B; Kähönen, M; Kamatani, Y; Kammerer, Cm; Kanai, M; Kastarinen, M; Kerr, Sm; Khor, Cc; Kiess, W; Kleber, Me; Koenig, W; Kooner, Js; Körner, A; Kovacs, P; Kraja, At; Krajcoviechova, A; Kramer, H; Krämer, Bk; Kronenberg, F; Kubo, M; Kühnel, B; Kuokkanen, M; Kuusisto, J; La Bianca, M; Laakso, M; Lange, La; Langefeld, Cd; Lee, Jj; Lehne, B; Lehtimäki, T; Lieb, W; Lifelines Cohort, Study; Lim, Sc; Lind, L; Lindgren, Cm; Liu, J; Liu, J; Loeffler, M; Loos, Rjf; Lucae, S; Lukas, Ma; Lyytikäinen, Lp; Mägi, R; Magnusson, Pke; Mahajan, A; Martin, Ng; Martins, J; März, W; Mascalzoni, D; Matsuda, K; Meisinger, C; Meitinger, T; Melander, O; Metspalu, A; Mikaelsdottir, Ek; Milaneschi, Y; Miliku, K; Mishra, Pp; V. A., Million Veteran Program; Mohlke, Kl; Mononen, N; Montgomery, Gw; Mook-Kanamori, Do; Mychaleckyj, Jc; Nadkarni, Gn; Nalls, Ma; Nauck, M; Nikus, K; Ning, B; Nolte, Im; Noordam, R; O'Connell, J; O'Donoghue, Ml; Olafsson, I; Oldehinkel, Aj; Orho-Melander, M; Ouwehand, Wh; Padmanabhan, S; Palmer, Nd; Palsson, R; Penninx, Bwjh; Perls, T; Perola, M; Pirastu, M; Pirastu, N; Pistis, G; Podgornaia, Ai; Polasek, O; Ponte, B; Porteous, Dj; Poulain, T; Pramstaller, Pp; Preuss, Mh; Prins, Bp; Province, Ma; Rabelink, Tj; Raffield, Lm; Raitakari, Ot; Reilly, Df; Rettig, R; Rheinberger, M; Rice, Km; Ridker, Pm; Rivadeneira, F; Rizzi, F; Roberts, Dj; Robino, A; Rossing, P; Rudan, I; Rueedi, R; Ruggiero, D; Ryan, Ka; Saba, Y; Sabanayagam, C; Salomaa, V; Salvi, E; Saum, Ku; Schmidt, H; Schmidt, R; Schöttker, B; Schulz, Ca; Schupf, N; Shaffer, Cm; Shi, Y; Smith, Av; Smith, Bh; Soranzo, N; Spracklen, Cn; Strauch, K; Stringham, Hm; Stumvoll, M; Svensson, Po; Szymczak, S; Tai, Es; Tajuddin, Sm; Tan, Nyq; Taylor, Kd; Teren, A; Tham, Yc; Thiery, J; Thio, Chl; Thomsen, H; Thorleifsson, G; Toniolo, D; Tönjes, A; Tremblay, J; Tzoulaki, I; Uitterlinden, Ag; Vaccargiu, S; van Dam, Rm; van der Harst, P; van Duijn, Cm; Velez Edward, Dr; Verweij, N; Vogelezang, S; Völker, U; Vollenweider, P; Waeber, G; Waldenberger, M; Wallentin, L; Wang, Yx; Wang, C; Waterworth, Dm; Bin Wei, W; White, H; Whitfield, Jb; Wild, Sh; Wilson, Jf; Wojczynski, Mk; Wong, C; Wong, Ty; Xu, L; Yang, Q; Yasuda, M; Yerges-Armstrong, Lm; Zhang, W; Zonderman, Ab; Rotter, Ji; Bochud, M; Psaty, Bm; Vitart, V; Wilson, Jg; Dehghan, A; Parsa, A; Chasman, Di; Ho, K; Morris, Ap; Devuyst, O; Akilesh, S; Pendergrass, Sa; Sim, X; Böger, Ca; Okada, Y; Edwards, Tl; Snieder, H; Stefansson, K; Hung, Am; Heid, Im; Scholz, M; Teumer, A; Köttgen, A; Pattaro, C.
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease
2021-01-01 Morgan, A.; Dipresa, S.; Turolla, L.; La Bianca, M.; Faletra, F.; Girotto, G.
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
2022-01-01 Winkler, Thomas W; Rasheed, Humaira; Teumer, Alexander; Gorski, Mathias; Rowan, Bryce X; Stanzick, Kira J; Thomas, Laurent F; Tin, Adrienne; Hoppmann, Anselm; Chu, Audrey Y; Tayo, Bamidele; Thio, Chris H L; Cusi, Daniele; Chai, Jin-Fang; Sieber, Karsten B; Horn, Katrin; Li, Man; Scholz, Markus; Cocca, Massimiliano; Wuttke, Matthias; van der Most, Peter J; Yang, Qiong; Ghasemi, Sahar; Nutile, Teresa; Li, Yong; Pontali, Giulia; Günther, Felix; Dehghan, Abbas; Correa, Adolfo; Parsa, Afshin; Feresin, Agnese; de Vries, Aiko P J; Zonderman, Alan B; Smith, Albert V; Oldehinkel, Albertine J; De Grandi, Alessandro; Rosenkranz, Alexander R; Franke, Andre; Teren, Andrej; Metspalu, Andres; Hicks, Andrew A; Morris, Andrew P; Tönjes, Anke; Morgan, Anna; Podgornaia, Anna I; Peters, Annette; Körner, Antje; Mahajan, Anubha; Campbell, Archie; Freedman, Barry I; Spedicati, Beatrice; Ponte, Belen; Schöttker, Ben; Brumpton, Ben; Banas, Bernhard; Krämer, Bernhard K; Jung, Bettina; Åsvold, Bjørn Olav; Smith, Blair H; Ning, Boting; Penninx, Brenda W J H; Vanderwerff, Brett R; Psaty, Bruce M; Kammerer, Candace M; Langefeld, Carl D; Hayward, Caroline; Spracklen, Cassandra N; Robinson-Cohen, Cassianne; Hartman, Catharina A; Lindgren, Cecilia M; Wang, Chaolong; Sabanayagam, Charumathi; Heng, Chew-Kiat; Lanzani, Chiara; Khor, Chiea-Chuen; Cheng, Ching-Yu; Fuchsberger, Christian; Gieger, Christian; Shaffer, Christian M; Schulz, Christina-Alexandra; Willer, Cristen J; Chasman, Daniel I; Gudbjartsson, Daniel F; Ruggiero, Daniela; Toniolo, Daniela; Czamara, Darina; Porteous, David J; Waterworth, Dawn M; Mascalzoni, Deborah; Mook-Kanamori, Dennis O; Reilly, Dermot F; Daw, E Warwick; Hofer, Edith; Boerwinkle, Eric; Salvi, Erika; Bottinger, Erwin P; Tai, E-Shyong; Catamo, Eulalia; Rizzi, Federica; Guo, Feng; Rivadeneira, Fernando; Guilianini, Franco; Sveinbjornsson, Gardar; Ehret, Georg; Waeber, Gerard; Biino, Ginevra; Girotto, Giorgia; Pistis, Giorgio; Nadkarni, Girish N; Delgado, Graciela E; Montgomery, Grant W; Snieder, Harold; Campbell, Harry; White, Harvey D; Gao, He; Stringham, Heather M; Schmidt, Helena; Li, Hengtong; Brenner, Hermann; Holm, Hilma; Kirsten, Holgen; Kramer, Holly; Rudan, Igor; Nolte, Ilja M; Tzoulaki, Ioanna; Olafsson, Isleifur; Martins, Jade; Cook, James P; Wilson, James F; Halbritter, Jan; Felix, Janine F; Divers, Jasmin; Kooner, Jaspal S; Lee, Jeannette Jen-Mai; O'Connell, Jeffrey; Rotter, Jerome I; Liu, Jianjun; Xu, Jie; Thiery, Joachim; Ärnlöv, Johan; Kuusisto, Johanna; Jakobsdottir, Johanna; Tremblay, Johanne; Chambers, John C; Whitfield, John B; Gaziano, John M; Marten, Jonathan; Coresh, Josef; Jonas, Jost B; Mychaleckyj, Josyf C; Christensen, Kaare; Eckardt, Kai-Uwe; Mohlke, Karen L; Endlich, Karlhans; Dittrich, Katalin; Ryan, Kathleen A; Rice, Kenneth M; Taylor, Kent D; Ho, Kevin; Nikus, Kjell; Matsuda, Koichi; Strauch, Konstantin; Miliku, Kozeta; Hveem, Kristian; Lind, Lars; Wallentin, Lars; Yerges-Armstrong, Laura M; Raffield, Laura M; Phillips, Lawrence S; Launer, Lenore J; Lyytikäinen, Leo-Pekka; Lange, Leslie A; Citterio, Lorena; Klaric, Lucija; Ikram, M Arfan; Ising, Marcus; Kleber, Marcus E; Francescatto, Margherita; Concas, Maria Pina; Ciullo, Marina; Piratsu, Mario; Orho-Melander, Marju; Laakso, Markku; Loeffler, Markus; Perola, Markus; de Borst, Martin H; Gögele, Martin; Bianca, Martina La; Lukas, Mary Ann; Feitosa, Mary F; Biggs, Mary L; Wojczynski, Mary K; Kavousi, Maryam; Kanai, Masahiro; Akiyama, Masato; Yasuda, Masayuki; Nauck, Matthias; Waldenberger, Melanie; Chee, Miao-Li; Chee, Miao-Ling; Boehnke, Michael; Preuss, Michael H; Stumvoll, Michael; Province, Michael A; Evans, Michele K; O'Donoghue, Michelle L; Kubo, Michiaki; Kähönen, Mika; Kastarinen, Mika; Nalls, Mike A; Kuokkanen, Mikko; Ghanbari, Mohsen; Bochud, Murielle; Josyula, Navya Shilpa; Martin, Nicholas G; Tan, Nicholas Y Q; Palmer, Nicholette D; Pirastu, Nicola; Schupf, Nicole; Verweij, Niek; Hutri-Kähönen, Nina; Mononen, Nina; Bansal, Nisha; Devuyst, Olivier; Melander, Olle; Raitakari, Olli T; Polasek, Ozren; Manunta, Paolo; Gasparini, Paolo; Mishra, Pashupati P; Sulem, Patrick; Magnusson, Patrik K E; Elliott, Paul; Ridker, Paul M; Hamet, Pavel; Svensson, Per O; Joshi, Peter K; Kovacs, Peter; Pramstaller, Peter P; Rossing, Peter; Vollenweider, Peter; van der Harst, Pim; Dorajoo, Rajkumar; Sim, Ralene Z H; Burkhardt, Ralph; Tao, Ran; Noordam, Raymond; Mägi, Reedik; Schmidt, Reinhold; de Mutsert, Renée; Rueedi, Rico; van Dam, Rob M; Carroll, Robert J; Gansevoort, Ron T; Loos, Ruth J F; Felicita, Sala Cinzia; Sedaghat, Sanaz; Padmanabhan, Sandosh; Freitag-Wolf, Sandra; Pendergrass, Sarah A; Graham, Sarah E; Gordon, Scott D; Hwang, Shih-Jen; Kerr, Shona M; Vaccargiu, Simona; Patil, Snehal B; Hallan, Stein; Bakker, Stephan J L; Lim, Su-Chi; Lucae, Susanne; Vogelezang, Suzanne; Bergmann, Sven; Corre, Tanguy; Ahluwalia, Tarunveer S; Lehtimäki, Terho; Boutin, Thibaud S; Meitinger, Thomas; Wong, Tien-Yin; Bergler, Tobias; Rabelink, Ton J; Esko, Tõnu; Haller, Toomas; Thorsteinsdottir, Unnur; Völker, Uwe; Foo, Valencia Hui Xian; Salomaa, Veikko; Vitart, Veronique; Giedraitis, Vilmantas; Gudnason, Vilmundur; Jaddoe, Vincent W V; Huang, Wei; Zhang, Weihua; Wei, Wen Bin; Kiess, Wieland; März, Winfried; Koenig, Wolfgang; Lieb, Wolfgang; Gao, Xin; Sim, Xueling; Wang, Ya Xing; Friedlander, Yechiel; Tham, Yih-Chung; Kamatani, Yoichiro; Okada, Yukinori; Milaneschi, Yuri; Yu, Zhi; Stark, Klaus J; Stefansson, Kari; Böger, Carsten A; Hung, Adriana M; Kronenberg, Florian; Köttgen, Anna; Pattaro, Cristian; Heid, Iris M
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
2016-01-01 Barban, N; Jansen, R; de Vlaming, R; Vaez, A; Mandemakers, Jj; Tropf, Fc; Shen, X; Wilson, Jf; Chasman, Di; Nolte, Im; Tragante, V; van der Laan, Sw; Perry, Jr; Kong, A; Ahluwalia, Ts; Albrecht, E; Yerges Armstrong, L; Atzmon, G; Auro, K; Ayers, K; Bakshi, A; Ben Avraham, D; Berger, K; Bergman, A; Bertram, L; Bielak, Lf; Bjornsdottir, G; Bonder, Mj; Broer, L; Bui, M; Barbieri, CATERINA MARIA; Cavadino, A; Chavarro, Je; Turman, C; Concas, MARIA PINA; Cordell, Hj; Davies, G; Eibich, P; Eriksson, N; Esko, T; Eriksson, J; Falahi, F; Felix, Jf; Fontana, Ma; Franke, L; Gandin, Ilaria; Gaskins, Aj; Gieger, C; Gunderson, Ep; Guo, X; Hayward, C; He, C; Hofer, E; Huang, H; Joshi, Pk; Kanoni, S; Karlsson, R; Kiechl, S; Kifley, A; Kluttig, A; Kraft, P; Lagou, V; Lecoeur, C; Lahti, J; Li Gao, R; Lind, Pa; Liu, T; Makalic, E; Mamasoula, C; Matteson, L; Mbarek, H; Mcardle, Pf; Mcmahon, G; Meddens, Sf; Mihailov, E; Miller, M; Missmer, Sa; Monnereau, C; van der Most, Pj; Myhre, R; Nalls, Ma; Nutile, T; Kalafati, Ip; Porcu, E; Prokopenko, I; Rajan, Kb; Rich Edwards, J; Rietveld, Ca; Robino, Antonietta; Rose, Lm; Rueedi, R; Ryan, Ka; Saba, Y; Schmidt, D; Smith, Ja; Stolk, L; Streeten, E; Tönjes, A; Thorleifsson, G; Ulivi, Sheila; Wedenoja, J; Wellmann, J; Willeit, P; Yao, J; Yengo, L; Zhao, Jh; Zhao, W; Zhernakova, Dv; Amin, N; Andrews, H; Balkau, B; Barzilai, N; Bergmann, S; Biino, G; Bisgaard, H; Bønnelykke, K; Boomsma, Di; Buring, Je; Campbell, H; Cappellani, Stefania; Ciullo, M; Cox, Sr; Cucca, F; Toniolo, D; Davey Smith, G; Deary, Ij; Dedoussis, G; Deloukas, P; van Duijn, Cm; de Geus, Ej; Eriksson, Jg; Evans, Da; Faul, Jd; Sala, Cf; Froguel, P; Gasparini, Paolo; Girotto, Giorgia; Grabe, Hj; Greiser, Kh; Groenen, Pj; de Haan, Hg; Haerting, J; Harris, Tb; Heath, Ac; Heikkilä, K; Hofman, A; Homuth, G; Holliday, Eg; Hopper, J; Hyppönen, E; Jacobsson, B; Jaddoe, Vw; Johannesson, M; Jugessur, A; Kähönen, M; Kajantie, E; Kardia, Sl; Keavney, B; Kolcic, I; Koponen, P; Kovacs, P; Kronenberg, F; Kutalik, Z; LA BIANCA, Martina; Lachance, G; Iacono, Wg; Lai, S; Lehtimäki, T; Liewald, Dc; Lindgren, Cm; Liu, Y; Luben, R; Lucht, M; Luoto, R; Magnus, P; Magnusson, Pk; Martin, Ng; Mcgue, M; Mcquillan, R; Medland, Se; Meisinger, C; Mellström, D; Metspalu, A; Traglia, Michela; Milani, L; Mitchell, P; Montgomery, Gw; Mook Kanamori, D; de Mutsert, R; Nohr, Ea; Ohlsson, C; Olsen, J; Ong, Kk; Paternoster, L; Pattie, A; Penninx, Bw; Perola, M; Peyser, Pa; Pirastu, M; Polasek, O; Power, C; Kaprio, J; Raffel, Lj; Räikkönen, K; Raitakari, O; Ridker, Pm; Ring, Sm; Roll, K; Rudan, I; Ruggiero, D; Rujescu, D; Salomaa, V; Schlessinger, D; Schmidt, H; Schmidt, R; Schupf, N; Smit, J; Sorice, R; Spector, Td; Starr, Jm; Stöckl, D; Strauch, K; Stumvoll, M; Swertz, Ma; Thorsteinsdottir, U; Thurik, Ar; Timpson, Nj; Tung, Jy; Uitterlinden, Ag; Vaccargiu, S; Viikari, J; Vitart, V; Völzke, H; Vollenweider, P; Vuckovic, Dragana; Waage, J; Wagner, Gg; Wang, Jj; Wareham, Nj; Weir, Dr; Willemsen, G; Willeit, J; Wright, Af; Zondervan, Kt; Stefansson, K; Krueger, Rf; Lee, Jj; Benjamin, Dj; Cesarini, D; Koellinger, Pd; den Hoed, M; Snieder, H; Mills, Mc
Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder
2023-01-01 Dattilo, Vincenzo; Ulivi, Sheila; Minelli, Alessandra; La Bianca, Martina; Giacopuzzi, Edoardo; Bortolomasi, Marco; Bignotti, Stefano; Gennarelli, Massimo; Gasparini, Paolo; Concas, Maria Pina
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations
2018-01-01 Morgan, Anna; Lenarduzzi, Stefania; Cappellani, Stefania; Pecile, Vanna; Morgutti, Marcello; Orzan, Eva; Ghiselli, Sara; Ambrosetti, Umberto; Brumat, Marco; Gajendrarao, Poornima; La Bianca, Martina; Faletra, Flavio; Grosso, Enrico; Sirchia, Fabio; Sensi, Alberto; Graziano, Claudio; Seri, Marco; Gasparini, Paolo; Girotto, Giorgia
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
2020-01-01 D'Adamo, A. P.; Bianco, A. M.; Ferrara, G.; La Bianca, M.; Insalaco, A.; Tommasini, A.; Pardeo, M.; Cattalini, M.; La Torre, F.; Finetti, M.; Alizzi, C.; Simonini, G.; Messia, V.; Pastore, S.; Cimaz, R.; Gattorno, M.; Taddio, A.
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss
2019-01-01 Girotto, Giorgia; Morgan, Anna; Krishnamoorthy, Navaneethakrishnan; Cocca, Massimiliano; Brumat, Marco; Bassani, Sissy; La Bianca, Martina; Di Stazio, Mariateresa; Gasparini, Paolo
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
2019-01-01 Morgan, Anna; Vuckovic, Dragana; Krishnamoorthy, Navaneethakrishnan; Rubinato, Elisa; Ambrosetti, Umberto; Castorina, Pierangela; Franzè, Annamaria; Vozzi, Diego; La Bianca, Martina; Cappellani, Stefania; Di Stazio, Mariateresa; Gasparini, Paolo; Girotto, Giorgia
Rare and low-frequency coding variants alter human adult height
2017-01-01 Marouli, Eirini; Graff, Mariaelisa; Medina Gomez, Carolina; Lo, Ken Sin; Wood, Andrew R.; Kjaer, Troels R.; Fine, Rebecca S.; Lu, Yingchang; Schurmann, Claudia; Highland, Heather M.; Rüeger, Sina; Thorleifsson, Gudmar; Justice, Anne E.; Lamparter, David; Stirrups, Kathleen E.; Turcot, Valérie; Young, Kristin L.; Winkler, Thomas W.; Esko, Tõnu; Karaderi, Tugce; Locke, Adam E.; Masca, Nicholas G. D.; Ng, Maggie C. Y.; Mudgal, Poorva; Rivas, Manuel A.; Vedantam, Sailaja; Mahajan, Anubha; Guo, Xiuqing; Abecasis, Goncalo; Aben, Katja K.; Adair, Linda S.; Alam, Dewan S.; Albrecht, Eva; Allin, Kristine H.; Allison, Matthew; Amouyel, Philippe; Appel, Emil V.; Arveiler, Dominique; Asselbergs, Folkert W.; Auer, Paul L.; Balkau, Beverley; Banas, Bernhard; Bang, Lia E.; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F.; Blüher, Matthias; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A.; Bonnycastle, Lori L.; Bork Jensen, Jette; Bots, Michiel L.; Bottinger, Erwin P.; Bowden, Donald W.; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H.; Broer, Linda; Burt, Amber A.; Butterworth, Adam S.; Carey, David J.; Caulfield, Mark J.; Chambers, John C.; Chasman, Daniel I.; Chen, Yii Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y.; Cocca, Massimiliano; Collins, Francis S.; Cook, James P.; Corley, Janie; Galbany, Jordi Corominas; Cox, Amanda J.; Cuellar Partida, Gabriel; Danesh, John; Davies, Gail; De Bakker, Paul I. W.; De Borst, Gert J.; De Denus, Simon; De Groot, Mark C. H.; De Mutsert, Renée; Deary, Ian J.; Dedoussis, George; Demerath, Ellen W.; Den Hollander, Anneke I.; Dennis, Joe G.; Di Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dunning, Alison M.; Easton, Douglas F.; Ebeling, Tapani; Edwards, Todd L.; Ellinor, Patrick T.; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki Eleni; Faul, Jessica D.; Feitosa, Mary F.; Feng, Shuang; Ferrannini, Ele; Ferrario, Marco M.; Ferrieres, Jean; Florez, Jose C.; Ford, Ian; Fornage, Myriam; Franks, Paul W.; Frikke Schmidt, Ruth; Galesloot, Tessel E.; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Giri, Ayush; Girotto, Giorgia; Gordon, Scott D.; Gordon Larsen, Penny; Gorski, Mathias; Grarup, Niels; Grove, Megan L.; Gudnason, Vilmundur; Gustafsson, Stefan; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B.; Hattersley, Andrew T.; Hayward, Caroline; He, Liang; Heid, Iris M.; Heikkilä, Kauko; Helgeland, Øyvind; Hernesniemi, Jussi; Hewitt, Alex W.; Hocking, Lynne J.; Hollensted, Mette; Holmen, Oddgeir L.; Hovingh, G. Kees; Howson, Joanna M. M.; Hoyng, Carel B.; Huang, Paul L.; Hveem, Kristian; Ikram, M. Arfan; Ingelsson, Erik; Jackson, Anne U.; Jansson, Jan Håkan; Jarvik, Gail P.; Jensen, Gorm B.; Jhun, Min A.; Jia, Yucheng; Jiang, Xuejuan; Johansson, Stefan; Jørgensen, Marit E.; Jørgensen, Torben; Jousilahti, Pekka; Jukema, J. Wouter; Kahali, Bratati; Kahn, René S.; Kähönen, Mika; Kamstrup, Pia R.; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon L. R.; Karpe, Fredrik; Kee, Frank; Keeman, Renske; Kiemeney, Lambertus A.; Kitajima, Hidetoshi; Kluivers, Kirsten B.; Kocher, Thomas; Komulainen, Pirjo; Kontto, Jukka; Kooner, Jaspal S.; Kooperberg, Charles; Kovacs, Peter; Kriebel, Jennifer; Kuivaniemi, Helena; Küry, Sébastien; Kuusisto, Johanna; LA BIANCA, Martina; Laakso, Markku; Lakka, Timo A.; Lange, Ethan M.; Lange, Leslie A.; Langefeld, Carl D.; Langenberg, Claudia; Larson, Eric B.; Lee, I. Te; Lehtimäki, Terho; Lewis, Cora E.; Li, Huaixing; Li, Jin; Li Gao, Ruifang; Lin, Honghuang; Lin, Li An; Lin, Xu; Lind, Lars; Lindström, Jaana; Linneberg, Allan; Liu, Yeheng; Liu, Yongmei; Lophatananon, Artitaya; Luan, Jian'An; Lubitz, Steven A.; Lyytikäinen, Leo Pekka; Mackey, David A.; Madden, Pamela A. F.; Manning, Alisa K.; Männistö, Satu; Marenne, Gaëlle; Marten, Jonathan; Martin, Nicholas G.; Mazul, Angela L.; Meidtner, Karina; Metspalu, Andres; Mitchell, Paul; Mohlke, Karen L.; Mook Kanamori, Dennis O.; Morgan, Anna; Morris, Andrew D.; Morris, Andrew P.; Müller Nurasyid, Martina; Munroe, Patricia B.; Nalls, Mike A.; Nauck, Matthias; Nelson, Christopher P.; Neville, Matt; Nielsen, Sune F.; Nikus, Kjell; Njølstad, Pål R.; Nordestgaard, Børge G.; Ntalla, Ioanna; O'Connel, Jeffrey R.; Oksa, Heikki; Loohuis, Loes M. Olde; Ophoff, Roel A.; Owen, Katharine R.; Packard, Chris J.; Padmanabhan, Sandosh; Palmer, Colin N. A.; Pasterkamp, Gerard; Patel, Aniruddh P.; Pattie, Alison; Pedersen, Oluf; Peissig, Peggy L.; Peloso, Gina M.; Pennell, Craig E.; Perola, Markus; Perry, James A.; Perry, John R. B.; Person, Thomas N.; Pirie, Ailith; Polasek, Ozren; Posthuma, Danielle; Raitakari, Olli T.; Rasheed, Asif; Rauramaa, Rainer; Reilly, Dermot F.; Reiner, Alex P.; Renström, Frida; Ridker, Paul M.; Rioux, John D.; Robertson, Neil; Robino, Antonietta; Rolandsson, Olov; Rudan, Igor; Ruth, Katherine S.; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J.; Sandow, Kevin; Sapkota, Yadav; Sattar, Naveed; Schmidt, Marjanka K.; Schreiner, Pamela J.; Schulze, Matthias B.; Scott, Robert A.; Segura Lepe, Marcelo P.; Shah, Svati; Sim, Xueling; Sivapalaratnam, Suthesh; Small, Kerrin S.; Smith, Albert Vernon; Smith, Jennifer A.; Southam, Lorraine; Spector, Timothy D.; Speliotes, Elizabeth K.; Starr, John M.; Steinthorsdottir, Valgerdur; Stringham, Heather M.; Stumvoll, Michael; Surendran, Praveen; Hart'T, Leen M.; Tansey, Katherine E.; Tardif, Jean Claude; Taylor, Kent D.; Teumer, Alexander; Thompson, Deborah J.; Thorsteinsdottir, Unnur; Thuesen, Betina H.; Tönjes, Anke; Tromp, Gerard; Trompet, Stella; Tsafantakis, Emmanouil; Tuomilehto, Jaakko; Tybjaerg Hansen, Anne; Tyrer, Jonathan P.; Uher, Rudolf; Uitterlinden, André G.; Ulivi, Sheila; Van Der Laan, Sander W.; Van Der Leij, Andries R.; Van Duijn, Cornelia M.; Van Schoor, Natasja M.; Van Setten, Jessica; Varbo, Anette; Varga, Tibor V.; Varma, Rohit; Velez Edwards, Digna R.; Vermeulen, Sita H.; Vestergaard, Henrik; Vitart, Veronique; Vogt, Thomas F.; Vozzi, Diego; Walker, Mark; Wang, Feijie; Wang, Carol A.; Wang, Shuai; Wang, Yiqin; Wareham, Nicholas J.; Warren, Helen R.; Wessel, Jennifer; Willems, Sara M.; Wilson, James G.; Witte, Daniel R.; Woods, Michael O.; Wu, Ying; Yaghootkar, Hanieh; Yao, Jie; Yao, Pang; Yerges Armstrong, Laura M.; Young, Robin; Zeggini, Eleftheria; Zhan, Xiaowei; Zhang, Weihua; Zhao, Jing Hua; Zhao, Wei; Zheng, He; Zhou, Wei; Rotter, Jerome I.; Boehnke, Michael; Kathiresan, Sekar; Mccarthy, Mark I.; Willer, Cristen J.; Stefansson, Kari; Borecki, Ingrid B.; Liu, Dajiang J.; North, Kari E.; Heard Costa, Nancy L.; Pers, Tune H.; Lindgren, Cecilia M.; Oxvig, Claus; Kutalik, Zoltán; Rivadeneira, Fernando; Loos, Ruth J. F.; Frayling, Timothy M.; Hirschhorn, Joel N.; Deloukas, Panos; Lettre, Guillaume
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
2022-01-01 Persico, I.; Feresin, A.; Faleschini, M.; Fontana, G.; Sirchia, F.; Faletra, F.; La Bianca, M.; Suergiu, S.; Morgutti, M.; Maschio, M.; D'Adamo, A. P.; Raraigh, K.; Savoia, A.; Bottega, R.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
2022-01-01 Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco