Sfoglia per Autore
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency
2018-01-01 Mezzavilla, Massimo; Moura, Ronald Rodrigues; Celsi, Fulvio; Tricarico, Paola Maura; Crovella, Sergio
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss
2018-01-01 Guarch, Meritxell Espino; Font-Llitjós, Mariona; Murillo-Cuesta, Silvia; Errasti-Murugarren, Ekaitz; Celaya, Adelaida M.; Girotto, Giorgia; Vuckovic, Dragana; Mezzavilla, Massimo; Vilches, Clara; Bodoy, Susanna; Sahún, Ignasi; González, Laura; Prat, Esther; Zorzano, Antonio; Dierssen, Mara; Varela-Nieto, Isabel; Gasparini, Paolo; Palacín, Manuel; Nunes, Virginia
Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern
2018-01-01 Maisano Delser, Pierpaolo; Ravnik-Glavač, Metka; Gasparini, Paolo; Glavač, Damjan; Mezzavilla, Massimo
Associations of autozygosity with a broad range of human phenotypes
2019-01-01 Clark, D. W.; Okada, Y.; Moore, K. H. S.; Mason, D.; Pirastu, N.; Gandin, I.; Mattsson, H.; Barnes, C. L. K.; Lin, K.; Zhao, J. H.; Deelen, P.; Rohde, R.; Schurmann, C.; Guo, X.; Giulianini, F.; Zhang, W.; Medina-Gomez, C.; Karlsson, R.; Bao, Y.; Bartz, T. M.; Baumbach, C.; Biino, G.; Bixley, M. J.; Brumat, M.; Chai, J. -F.; Corre, T.; Cousminer, D. L.; Dekker, A. M.; Eccles, D. A.; van Eijk, K. R.; Fuchsberger, C.; Gao, H.; Germain, M.; Gordon, S. D.; de Haan, H. G.; Harris, S. E.; Hofer, E.; Huerta-Chagoya, A.; Igartua, C.; Jansen, I. E.; Jia, Y.; Kacprowski, T.; Karlsson, T.; Kleber, M. E.; Li, S. A.; Li-Gao, R.; Mahajan, A.; Matsuda, K.; Meidtner, K.; Meng, W.; Montasser, M. E.; van der Most, P. J.; Munz, M.; Nutile, T.; Palviainen, T.; Prasad, G.; Prasad, R. B.; Priyanka, T. D. S.; Rizzi, F.; Salvi, E.; Sapkota, B. R.; Shriner, D.; Skotte, L.; Smart, M. C.; Smith, A. V.; van der Spek, A.; Spracklen, C. N.; Strawbridge, R. J.; Tajuddin, S. M.; Trompet, S.; Turman, C.; Verweij, N.; Viberti, C.; Wang, L.; Warren, H. R.; Wootton, R. E.; Yanek, L. R.; Yao, J.; Yousri, N. A.; Zhao, W.; Adeyemo, A. A.; Afaq, S.; Aguilar-Salinas, C. A.; Akiyama, M.; Albert, M. L.; Allison, M. A.; Alver, M.; Aung, T.; Azizi, F.; Bentley, A. R.; Boeing, H.; Boerwinkle, E.; Borja, J. B.; de Borst, G. J.; Bottinger, E. P.; Broer, L.; Campbell, H.; Chanock, S.; Chee, M. -L.; Chen, G.; Chen, Y. -D. I.; Chen, Z.; Chiu, Y. -F.; Cocca, M.; Collins, F. S.; Concas, M. P.; Corley, J.; Cugliari, G.; van Dam, R. M.; Damulina, A.; Daneshpour, M. S.; Day, F. R.; Delgado, G. E.; Dhana, K.; Doney, A. S. F.; Dorr, M.; Doumatey, A. P.; Dzimiri, N.; Ebenesersdottir, S. S.; Elliott, J.; Elliott, P.; Ewert, R.; Felix, J. F.; Fischer, K.; Freedman, B. I.; Girotto, G.; Goel, A.; Gogele, M.; Goodarzi, M. O.; Graff, M.; Granot-Hershkovitz, E.; Grodstein, F.; Guarrera, S.; Gudbjartsson, D. F.; Guity, K.; Gunnarsson, B.; Guo, Y.; Hagenaars, S. P.; Haiman, C. A.; Halevy, A.; Harris, T. B.; Hedayati, M.; van Heel, D. A.; Hirata, M.; Hofer, I.; Hsiung, C. A.; Huang, J.; Hung, Y. -J.; Ikram, M. A.; Jagadeesan, A.; Jousilahti, P.; Kamatani, Y.; Kanai, M.; Kerrison, N. D.; Kessler, T.; Khaw, K. -T.; Khor, C. C.; de Kleijn, D. P. V.; Koh, W. -P.; Kolcic, I.; Kraft, P.; Kramer, B. K.; Kutalik, Z.; Kuusisto, J.; Langenberg, C.; Launer, L. J.; Lawlor, D. A.; Lee, I. -T.; Lee, W. -J.; Lerch, M. M.; Li, L.; Liu, J.; Loh, M.; London, S. J.; Loomis, S.; Lu, Y.; Luan, J.; Magi, R.; Manichaikul, A. W.; Manunta, P.; Masson, G.; Matoba, N.; Mei, X. W.; Meisinger, C.; Meitinger, T.; Mezzavilla, M.; Milani, L.; Millwood, I. Y.; Momozawa, Y.; Moore, A.; Morange, P. -E.; Moreno-Macias, H.; Mori, T. A.; Morrison, A. C.; Muka, T.; Murakami, Y.; Murray, A. D.; de Mutsert, R.; Mychaleckyj, J. C.; Nalls, M. A.; Nauck, M.; Neville, M. J.; Nolte, I. M.; Ong, K. K.; Orozco, L.; Padmanabhan, S.; Palsson, G.; Pankow, J. S.; Pattaro, C.; Pattie, A.; Polasek, O.; Poulter, N.; Pramstaller, P. P.; Quintana-Murci, L.; Raikkonen, K.; Ralhan, S.; Rao, D. C.; van Rheenen, W.; Rich, S. S.; Ridker, P. M.; Rietveld, C. A.; Robino, A.; van Rooij, F. J. A.; Ruggiero, D.; Saba, Y.; Sabanayagam, C.; Sabater-Lleal, M.; Sala, C. F.; Salomaa, V.; Sandow, K.; Schmidt, H.; Scott, L. J.; Scott, W. R.; Sedaghati-Khayat, B.; Sennblad, B.; van Setten, J.; Sever, P. J.; Sheu, W. H. -H.; Shi, Y.; Shrestha, S.; Shukla, S. R.; Sigurdsson, J. K.; Sikka, T. T.; Singh, J. R.; Smith, B. H.; Stancakova, A.; Stanton, A.; Starr, J. M.; Stefansdottir, L.; Straker, L.; Sulem, P.; Sveinbjornsson, G.; Swertz, M. A.; Taylor, A. M.; Taylor, K. D.; Terzikhan, N.; Tham, Y. -C.; Thorleifsson, G.; Thorsteinsdottir, U.; Tillander, A.; Tracy, R. P.; Tusie-Luna, T.; Tzoulaki, I.; Vaccargiu, S.; Vangipurapu, J.; Veldink, J. H.; Vitart, V.; Volker, U.; Vuoksimaa, E.; Wakil, S. M.; Waldenberger, M.; Wander, G. S.; Wang, Y. X.; Wareham, N. J.; Wild, S.; Yajnik, C. S.; Yuan, J. -M.; Zeng, L.; Zhang, L.; Zhou, J.; Amin, N.; Asselbergs, F. W.; Bakker, S. J. L.; Becker, D. M.; Lehne, B.; Bennett, D. A.; van den Berg, L. H.; Berndt, S. I.; Bharadwaj, D.; Bielak, L. F.; Bochud, M.; Boehnke, M.; Bouchard, C.; Bradfield, J. P.; Brody, J. A.; Campbell, A.; Carmi, S.; Caulfield, M. J.; Cesarini, D.; Chambers, J. C.; Chandak, G. R.; Cheng, C. -Y.; Ciullo, M.; Cornelis, M.; Cusi, D.; Smith, G. D.; Deary, I. J.; Dorajoo, R.; van Duijn, C. M.; Ellinghaus, D.; Erdmann, J.; Eriksson, J. G.; Evangelou, E.; Evans, M. K.; Faul, J. D.; Feenstra, B.; Feitosa, M.; Foisy, S.; Franke, A.; Friedlander, Y.; Gasparini, P.; Gieger, C.; Gonzalez, C.; Goyette, P.; Grant, S. F. A.; Griffiths, L. R.; Groop, L.; Gudnason, V.; Gyllensten, U.; Hakonarson, H.; Hamsten, A.; van der Harst, P.; Heng, C. -K.; Hicks, A. A.; Hochner, H.; Huikuri, H.; Hunt, S. C.; Jaddoe, V. W. V.; De Jager, P. L.; Johannesson, M.; Johansson, A.; Jonas, J. B.; Jukema, J. W.; Junttila, J.; Kaprio, J.; Kardia, S. L. R.; Karpe, F.; Kumari, M.; Laakso, M.; van der Laan, S. W.; Lahti, J.; Laudes, M.; Lea, R. A.; Lieb, W.; Lumley, T.; Martin, N. G.; Marz, W.; Matullo, G.; Mccarthy, M. I.; Medland, S. E.; Merriman, T. R.; Metspalu, A.; Meyer, B. F.; Mohlke, K. L.; Montgomery, G. W.; Mook-Kanamori, D.; Munroe, P. B.; North, K. E.; Nyholt, D. R.; O'Connell, J. R.; Ober, C.; Oldehinkel, A. J.; Palmas, W.; Palmer, C.; Pasterkamp, G. G.; Patin, E.; Pennell, C. E.; Perusse, L.; Peyser, P. A.; Pirastu, M.; Polderman, T. J. C.; Porteous, D. J.; Posthuma, D.; Psaty, B. M.; Rioux, J. D.; Rivadeneira, F.; Rotimi, C.; Rotter, J. I.; Rudan, I.; Den Ruijter, H. M.; Sanghera, D. K.; Sattar, N.; Schmidt, R.; Schulze, M. B.; Schunkert, H.; Scott, R. A.; Shuldiner, A. R.; Sim, X.; Small, N.; Smith, J. A.; Sotoodehnia, N.; Tai, E. -S.; Teumer, A.; Timpson, N. J.; Toniolo, D.; Tregouet, D. -A.; Tuomi, T.; Vollenweider, P.; Wang, C. A.; Weir, D. R.; Whitfield, J. B.; Wijmenga, C.; Wong, T. -Y.; Wright, J.; Yang, J.; Yu, L.; Zemel, B. S.; Zonderman, A. B.; Perola, M.; Magnusson, P. K. E.; Uitterlinden, A. G.; Kooner, J. S.; Chasman, D. I.; Loos, R. J. F.; Franceschini, N.; Franke, L.; Haley, C. S.; Hayward, C.; Walters, R. G.; Perry, J. R. B.; Esko, T.; Helgason, A.; Stefansson, K.; Joshi, P. K.; Kubo, M.; Wilson, J. F.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
2019-01-01 Morgan, A.; Koboldt, D. C.; Barrie, E. S.; Crist, E. R.; Garcia Garcia, G.; Mezzavilla, M.; Faletra, F.; Mihalic Mosher, T.; Wilson, R. K.; Blanchet, C.; Manickam, K.; Roux, A. -F.; Gasparini, P.; Dell'Orco, D.; Girotto, G.
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss
2019-01-01 Lenarduzzi, S.; Morgan, A.; Faletra, F.; Cappellani, S.; Morgutti, M.; Mezzavilla, M.; Peruzzi, A.; Ghiselli, S.; Ambrosetti, U.; Graziano, C.; Seri, M.; Gasparini, P.; Girotto, G.
Investigation of the link between PROP taste perception and vegetables consumption using FAOSTAT data
2019-01-01 Mezzavilla, Massimo; Notarangelo, Michela; Concas, Maria Pina; Catamo, Eulalia; Gasparini, Paolo; Grillotti, Maria Gemma; Robino, Antonietta
A bird’s-eye view of Italian genomic variation through whole-genome sequencing
2020-01-01 Cocca, M.; Barbieri, C.; Concas, M. P.; Robino, A.; Brumat, M.; Gandin, I.; Trudu, M.; Sala, C. F.; Vuckovic, D.; Girotto, G.; Matullo, G.; Polasek, O.; Kolcic, I.; Gasparini, P.; Soranzo, N.; Toniolo, D.; Mezzavilla, M.
A population-based approach for gene prioritization in understanding complex traits
2020-01-01 Mezzavilla, M.; Cocca, M.; Guidolin, F.; Gasparini, P.
Deleterious variants in genes associated with bone mineral density are linked to susceptibility to periodontitis development
2020-01-01 Mezzavilla, M.; Zupin, L.; Navarra, C. O.; Di Lenarda, R.; Gasparini, P.; Crovella, S.; Robino, A.; Bevilacqua, L.
Runs of homozygosity are associated with staging of periodontitis in isolated populations
2021-01-01 Mezzavilla, M.; Navarra, C. O.; Di Lenarda, R.; Gasparini, P.; Bevilacqua, L.; Robino, A.
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
2021-01-01 Spedicati, B.; Cocca, M.; Palmisano, R.; Faletra, F.; Barbieri, C.; Francescatto, M.; Mezzavilla, M.; Morgan, A.; Pelliccione, G.; Gasparini, P.; Girotto, G.
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population
2022-01-01 Mezzavilla, Massimo; Cocca, Massimiliano; Maisano Delser, Pierpaolo; Badii, Ramin; Abbaszadeh, Fatemeh; Hadi, Khalid Abdul; Girotto, Giorgia; Gasparini, Paolo
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways
2022-01-01 Young, William J; Lahrouchi, Najim; Isaacs, Aaron; Duong, Thuyvy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A; Salman, Reem; Noordam, Raymond; Benjamins, Jan-Walter; Haessler, Jeffrey; Lyytikäinen, Leo-Pekka; Repetto, Linda; Concas, Maria Pina; van den Berg, Marten E; Weiss, Stefan; Baldassari, Antoine R; Bartz, Traci M; Cook, James P; Evans, Daniel S; Freudling, Rebecca; Hines, Oliver; Isaksen, Jonas L; Lin, Honghuang; Mei, Hao; Moscati, Arden; Müller-Nurasyid, Martina; Nursyifa, Casia; Qian, Yong; Richmond, Anne; Roselli, Carolina; Ryan, Kathleen A; Tarazona-Santos, Eduardo; Thériault, Sébastien; van Duijvenboden, Stefan; Warren, Helen R; Yao, Jie; Raza, Dania; Aeschbacher, Stefanie; Ahlberg, Gustav; Alonso, Alvaro; Andreasen, Laura; Bis, Joshua C; Boerwinkle, Eric; Campbell, Archie; Catamo, Eulalia; Cocca, Massimiliano; Cutler, Michael J; Darbar, Dawood; De Grandi, Alessandro; De Luca, Antonio; Ding, Jun; Ellervik, Christina; Ellinor, Patrick T; Felix, Stephan B; Froguel, Philippe; Fuchsberger, Christian; Gögele, Martin; Graff, Claus; Graff, Mariaelisa; Guo, Xiuqing; Hansen, Torben; Heckbert, Susan R; Huang, Paul L; Huikuri, Heikki V; Hutri-Kähönen, Nina; Ikram, M Arfan; Jackson, Rebecca D; Junttila, Juhani; Kavousi, Maryam; Kors, Jan A; Leal, Thiago P; Lemaitre, Rozenn N; Lin, Henry J; Lind, Lars; Linneberg, Allan; Liu, Simin; Macfarlane, Peter W; Mangino, Massimo; Meitinger, Thomas; Mezzavilla, Massimo; Mishra, Pashupati P; Mitchell, Rebecca N; Mononen, Nina; Montasser, May E; Morrison, Alanna C; Nauck, Matthias; Nauffal, Victor; Navarro, Pau; Nikus, Kjell; Pare, Guillaume; Patton, Kristen K; Pelliccione, Giulia; Pittman, Alan; Porteous, David J; Pramstaller, Peter P; Preuss, Michael H; Raitakari, Olli T; Reiner, Alexander P; Ribeiro, Antonio Luiz P; Rice, Kenneth M; Risch, Lorenz; Schlessinger, David; Schotten, Ulrich; Schurmann, Claudia; Shen, Xia; Shoemaker, M Benjamin; Sinagra, Gianfranco; Sinner, Moritz F; Soliman, Elsayed Z; Stoll, Monika; Strauch, Konstantin; Tarasov, Kirill; Taylor, Kent D; Tinker, Andrew; Trompet, Stella; Uitterlinden, André; Völker, Uwe; Völzke, Henry; Waldenberger, Melanie; Weng, Lu-Chen; Whitsel, Eric A; Wilson, James G; Avery, Christy L; Conen, David; Correa, Adolfo; Cucca, Francesco; Dörr, Marcus; Gharib, Sina A; Girotto, Giorgia; Grarup, Niels; Hayward, Caroline; Jamshidi, Yalda; Järvelin, Marjo-Riitta; Jukema, J Wouter; Kääb, Stefan; Kähönen, Mika; Kanters, Jørgen K; Kooperberg, Charles; Lehtimäki, Terho; Lima-Costa, Maria Fernanda; Liu, Yongmei; Loos, Ruth J F; Lubitz, Steven A; Mook-Kanamori, Dennis O; Morris, Andrew P; O'Connell, Jeffrey R; Olesen, Morten Salling; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Psaty, Bruce M; Rotter, Jerome I; Stricker, Bruno; van der Harst, Pim; van Duijn, Cornelia M; Verweij, Niek; Wilson, James F; Arking, Dan E; Ramirez, Julia; Lambiase, Pier D; Sotoodehnia, Nona; Mifsud, Borbala; Newton-Cheh, Christopher; Munroe, Patricia B
Impact of cultural and genetic structure on food choices along the Silk Road
2022-01-01 Aneli, Serena; Mezzavilla, Massimo; Bortolini, Eugenio; Pirastu, Nicola; Girotto, Giorgia; Spedicati, Beatrice; Berchialla, Paola; Gasparini, Paolo; Pagani, Luca
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