Associations of autozygosity with a broad range of human phenotypes

Autor: 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., Deelan, 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.L., 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., Albert, M.L., Afaq, S., Aguilar-Salinas, C.A., Akiyama, M., 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.F.S., 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., Gögele, 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., Höfer, 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., Krämer, 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., Mägi, 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, Räikkönen, 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, S., Sennblad, B., van Setter, 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., Völker, 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., 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, Å., 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., März, W., Matullo, G., McCarthy, M.I., Medland, S.E., Merriman, T.R., Metspalu, A., Meyer, B.F., Mohlke, K.L., Montogomery, 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.G., 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, Neil A., 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., Wng, 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.

Yes
In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close rela

Externí odkaz: http://hdl.handle.net/10454/18210

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Genetic analysis reveals novel variants in a cohort of patients affected by sensorineural hearing loss and enlarged vestibular aqueduct (EVA).

Autor: Bernardinelli, E., Liuni, R., Roesch, S., Girotto, G., Dossena, S.

Publikováno v: Journal of Hearing Science; Sep2024, Vol. 14 Issue 3, p127-127, 1/2p

Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity

Autor: Piatti G., Ambrosetti U., Robino A., Girotto G., Gasparini P.

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to recurrent respiratory infections of upper and lower airways. Chronic rhinosinusitis (CRS) and bronchiectasis are very common in PCD patients. Recently, it has been show

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cd058518d0a85d1d1c675ae73c9f60e3
http://hdl.handle.net/11368/2971820