Sfoglia per Rivista NATURE GENETICS
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
1994-01-01 Bardoni, B; Zanaria, E; Floridia, G; Worley, Kc; Toini, G; Ferrante, E; Chiumello, G; Mccabe, Erb; Fraccaro, Marco; Zuffardi, Orsetta; Camerino, G.
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.
1994-01-01 Bardoni, B.; Zanaria, E.; Guioli, S.; Floridia, G.; Worley, K. C.; Tonini, G.; Ferrante, E.; Chiumello, G.; Mccabe, E. R.; Fraccaro, M.; Zuffardi, Orsetta; Camerino, Giovanna
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
2008-01-01 A. J., Sharp; H. C., Mefford; K., Li; C., Baker; C., Skinner; R. E., Stevenson; R. J., Schroer; F., Novara; M. D., Gregori; Ciccone, Roberto; A., Broomer; I., Casuga; Y., Wang; C., Xiao; C., Barbacioru; G., Gimelli; B. D., Bernardina; C., Torniero; R., Giorda; R., Regan; V., Murday; S., Mansour; M., Fichera; L., Castiglia; P., Failla; M., Ventura; Z., Jiang; G. M., Cooper; S. J., L.; C., Romano; O., Zuffardi; C., Chen; C. E., Schwartz; E. E., Eichler
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
2008-01-01 Sharp, Aj; Mefford, Hc; Li, K; Baker, C; Skinner, C; Stevenson, Re; Schroer, Rj; Novara, F; DE GREGORI, M; Ciccone, Roberto; Broomer, A; Casuga, I; Wang, Y; Xiao, C; Barbacioru, C; Gimelli, G; Bernardina, Bd; Torniero, C; Giorda, R; Regan, R; Murday, V; Mansour, S; Fichera, M; Castiglia, L; Failla, P; Ventura, M; Jiang, Z; Cooper, Gm; Knight, Sj; Romano, C; Zuffardi, Orsetta; Chen, C; Schwartz, Ce; Eichler, Ee
Achondrogenesis type 1B is caused by mutations in the diastrophic dysplasia sulfate transporter gene
1996-01-01 SUPERTI FURGA, A.; Hastbacka, J.; Wilcox, W. R.; Cohn, D. H.; VAN DER HARTEN, H. J.; Rossi, Antonio; Blau, N.; Rimoin, D. L.; Steinmann, B.; Lander, E. S.; Gitzelamann, R.
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
2010-01-01 Louie, Carrie M.; Caridi, Gianluca; Lopes, Vanda S.; Brancati, Francesco; Kispert, Andreas; Lancaster, Madeline A.; Schlossman, Andrew M.; Otto, Edgar A.; Leitges, Michael; Groene, Hermann Josef; Lopez, Irma; Gudiseva, Harini V.; O'Toole, John F.; Vallespin, Elena; Ayyagari, Radha; Ayuso, Carmen; Cremers, Frans P. M.; den Hollander, Anneke I.; Koenekoop, Robert K.; Dallapiccola, Bruno; Ghiggeri, Gian Marco; Hildebrandt, Friedhelm; Valente, ENZA MARIA; Williams, David S.; Gleeson, Joseph G.
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
2013-01-01 International Multiple Sclerosis Genetics, Consortium; Beecham, Ah; Patsopoulos, Na; Xifara, Dk; Davis, Mf; Kemppinen, A; Cotsapas, C; Shah, Ts; Spencer, C; Booth, D; Goris, A; Oturai, A; Saarela, J; Fontaine, B; Hemmer, B; Martin, C; Zipp, F; D'Alfonso, S; Martinelli Boneschi, F; Taylor, B; Harbo, Hf; Kockum, I; Hillert, J; Olsson, T; Ban, M; Oksenberg, Jr; Hintzen, R; Barcellos, Lf; Wellcome Trust Case Control Consortium, 2; International IBD Genetics, Consortium; Agliardi, C; Alfredsson, L; Alizadeh, M; Anderson, C; Andrews, R; Søndergaard, Hb; Baker, A; Band, G; Baranzini, Se; Barizzone, N; Barrett, J; Bellenguez, C; Bergamaschi, L; Bernardinelli, Luisa; Berthele, A; Biberacher, V; Binder, Tm; Blackburn, H; Bomfim, Il; Brambilla, P; Broadley, S; Brochet, B; Brundin, L; Buck, D; Butzkueven, H; Caillier, Sj; Camu, W; Carpentier, W; Cavalla, P; Celius, Eg; Coman, I; Comi, G; Corrado, L; Cosemans, L; Cournu Rebeix, I; Cree, Ba; Cusi, D; Damotte, V; Defer, G; Delgado, Sr; Deloukas, P; di Sapio, A; Dilthey, At; Donnelly, P; Dubois, B; Duddy, M; Edkins, S; Elovaara, I; Esposito, F; Evangelou, N; Fiddes, B; Field, J; Franke, A; Freeman, C; Frohlich, Iy; Galimberti, D; Gieger, C; Gourraud, Pa; Graetz, C; Graham, A; Grummel, V; Guaschino, C; Hadjixenofontos, A; Hakonarson, H; Halfpenny, C; Hall, G; Hall, P; Hamsten, A; Harley, J; Harrower, T; Hawkins, C; Hellenthal, G; Hillier, C; Hobart, J; Hoshi, M; Hunt, Se; Jagodic, M; Jelčić, I; Jochim, A; Kendall, B; Kermode, A; Kilpatrick, T; Koivisto, K; Konidari, I; Korn, T; Kronsbein, H; Langford, C; Larsson, M; Lathrop, M; Lebrun Frenay, C; Lechner Scott, J; Lee, Mh; Leone, Ma; Leppä, V; Liberatore, G; Lie, Ba; Lill, Cm; Lindén, M; Link, J; Luessi, F; Lycke, J; Macciardi, F; Männistö, S; Manrique, Cp; Martin, R; Martinelli, V; Mason, D; Mazibrada, G; Mccabe, C; Mero, Il; Mescheriakova, J; Moutsianas, L; Myhr, Km; Nagels, G; Nicholas, R; Nilsson, P; Piehl, F; Pirinen, M; Price, Se; Quach, H; Reunanen, M; Robberecht, W; Robertson, Np; Rodegher, M; Rog, D; Salvetti, M; Schnetz Boutaud, Nc; Sellebjerg, F; Selter, Rc; Schaefer, C; Shaunak, S; Shen, L; Shields, S; Siffrin, V; Slee, M; Sorensen, Ps; Sorosina, M; Sospedra, M; Spurkland, A; Strange, A; Sundqvist, E; Thijs, V; Thorpe, J; Ticca, A; Tienari, P; van Duijn, C; Visser, Em; Vucic, S; Westerlind, H; Wiley, Js; Wilkins, A; Wilson, Jf; Winkelmann, J; Zajicek, J; Zindler, E; Haines, Jl; Pericak Vance, Ma; Ivinson, Aj; Stewart, G; Hafler, D; Hauser, Sl; Compston, A; Mcvean, G; De Jager, P; Sawcer, Sj; Mccauley, Jl
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
2015-01-01 Hrabě de Angelis, Martin; Nicholson, George; Selloum, Mohammed; White, Jacqueline K; Morgan, Hugh; Ramirez-Solis, Ramiro; Sorg, Tania; Wells, Sara; Fuchs, Helmut; Fray, Martin; Adams, David J; Adams, Niels C; Adler, Thure; Aguilar-Pimentel, Antonio; Ali-Hadji, Dalila; Amann, Gregory; André, Philippe; Atkins, Sarah; Auburtin, Aurelie; Ayadi, Abdel; Becker, Julien; Becker, Lore; Bedu, Elodie; Bekeredjian, Raffi; Birling, Marie-Christine; Blake, Andrew; Bottomley, Joanna; Bowl, Michael R; Brault, Véronique; Busch, Dirk H; Bussell, James N; Calzada-Wack, Julia; Cater, Heather; Champy, Marie-France; Charles, Philippe; Chevalier, Claire; Chiani, Francesco; Codner, Gemma F; Combe, Roy; Cox, Roger; Dalloneau, Emilie; Dierich, André; Di Fenza, Armida; Doe, Brendan; Duchon, Arnaud; Eickelberg, Oliver; Esapa, Chris T; Fertak, Lahcen El; Feigel, Tanja; Emelyanova, Irina; Estabel, Jeanne; Favor, Jack; Flenniken, Ann; Gambadoro, Alessia; Garrett, Lilian; Gates, Hilary; Gerdin, Anna-Karin; Gkoutos, George; Greenaway, Simon; Glasl, Lisa; Goetz, Patrice; Da Cruz, Isabelle Goncalves; Götz, Alexander; Graw, Jochen; Guimond, Alain; Hans, Wolfgang; Hicks, Geoff; Hölter, Sabine M; Höfler, Heinz; Hancock, John M; Hoehndorf, Robert; Hough, Tertius; Houghton, Richard; Hurt, Anja; Ivandic, Boris; Jacobs, Hughes; Jacquot, Sylvie; Jones, Nora; Karp, Natasha A; Katus, Hugo A; Kitchen, Sharon; Klein-Rodewald, Tanja; Klingenspor, Martin; Klopstock, Thomas; Lalanne, Valerie; Leblanc, Sophie; Lengger, Christoph; le Marchand, Elise; Ludwig, Tonia; Lux, Aline; Mckerlie, Colin; Maier, Holger; Mandel, Jean-Louis; Marschall, Susan; Mark, Manuel; Melvin, David G; Meziane, Hamid; Micklich, Kateryna; Mittelhauser, Christophe; Monassier, Laurent; Moulaert, David; Muller, Stéphanie; Naton, Beatrix; Neff, Frauke; Nolan, Patrick M; Nutter, Lauryl M J; Ollert, Markus; Pavlovic, Guillaume; Pellegata, Natalia S; Peter, Emilie; Petit-Demoulière, Benoit; Pickard, Amanda; Podrini, Christine; Potter, Paul; Pouilly, Laurent; Puk, Oliver; Richardson, David; Rousseau, Stephane; Quintanilla-Fend, Leticia; Quwailid, Mohamed M; Racz, Ildiko; Rathkolb, Birgit; Riet, Fabrice; Rossant, Janet; Roux, Michel; Rozman, Jan; Ryder, Edward; Salisbury, Jennifer; Santos, Luis; Schäble, Karl-Heinz; Schiller, Evelyn; Schrewe, Anja; Schulz, Holger; Steinkamp, Ralf; Simon, Michelle; Stewart, Michelle; Stöger, Claudia; Stöger, Tobias; Sun, Minxuan; Sunter, David; Teboul, Lydia; Tilly, Isabelle; Tocchini-Valentini, Glauco P; Tost, Monica; Treise, Irina; Vasseur, Laurent; Velot, Emilie; Vogt-Weisenhorn, Daniela; Wagner, Christelle; Walling, Alison; Wattenhofer-Donze, Marie; Weber, Bruno; Wendling, Olivia; Westerberg, Henrik; Willershäuser, Monja; Wolf, Eckhard; Wolter, Anne; Wood, Joe; Wurst, Wolfgang; Yildirim, Ali Önder; Zeh, Ramona; Zimmer, Andreas; Zimprich, Annemarie; Holmes, Chris; Steel, Karen P; Herault, Yann; Gailus-Durner, Valérie; Mallon, Ann-Marie; Brown, Steve D M
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
2014-01-01 Thompson, Ba; Spurdle, Ab; Plazzer, Jp; Greenblatt, Ms; Newcomb P, . . .; Sarin, R; Haile, R; Hofstra, R; Ward, R; Tricarico, R; Bacares R et, Al.
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4)
2019-01-01 Cortese, A.; Simone, R.; Sullivan, R.; Vandrovcova, J.; Tariq, H.; Yau, W. Y.; Humphrey, J.; Jaunmuktane, Z.; Sivakumar, P.; Polke, J.; Ilyas, M.; Tribollet, E.; Tomaselli, P. J.; Devigili, G.; Callegari, I.; Versino, M.; Salpietro, V.; Efthymiou, S.; Kaski, D.; Wood, N. W.; Andrade, N. S.; Buglo, E.; Rebelo, A.; Rossor, A. M.; Bronstein, A.; Fratta, P.; Marques, W. J.; Zuchner, S.; Reilly, M. M.; Houlden, H.
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)
2020-01-01 Cortese, A.; Zhu, Y.; Rebelo, A. P.; Negri, S.; Courel, S.; Abreu, L.; Bacon, C. J.; Bai, Y.; Bis-Brewer, D. M.; Bugiardini, E.; Buglo, E.; Danzi, M. C.; Feely, S. M. E.; Athanasiou-Fragkouli, A.; Haridy, N. A.; Rodriguez, A.; Bacha, A.; Kosikowski, A.; Wood, B.; Mccray, B.; Blume, B.; Siskind, C.; Sumner, C.; Calabrese, D.; Walk, D.; Vujovic, D.; Park, E.; Muntoni, F.; Donlevy, G.; Acsadi, G.; Day, J.; Burns, J.; Li, J.; Krajewski, K.; Eichinger, K.; Cornett, K.; Mullen, K.; Laura, P. Q.; Gutmann, L.; Barrett, M.; Saporta, M.; Skorupinska, M.; Grant, N.; Bray, P.; Seyedsadjadi, R.; Zuccarino, R.; Finkel, R.; Lewis, R.; Yum, S.; Hilbert, S.; Thomas, S.; Behrens-Spraggins, S.; Jones, T.; Lloyd, T.; Grider, T.; Estilow, T.; Fridman, V.; Isasi, R.; Khan, A.; Laura, M.; Magri, S.; Pipis, M.; Pisciotta, C.; Powell, E.; Rossor, A. M.; Saveri, P.; Sowden, J. E.; Tozza, S.; Vandrovcova, J.; Dallman, J.; Grignani, E.; Marchioni, E.; Scherer, S. S.; Tang, B.; Lin, Z.; Al-Ajmi, A.; Schule, R.; Synofzik, M.; Maisonobe, T.; Stojkovic, T.; Auer-Grumbach, M.; Abdelhamed, M. A.; Hamed, S. A.; Zhang, R.; Manganelli, F.; Santoro, L.; Taroni, F.; Pareyson, D.; Houlden, H.; Herrmann, D. N.; Reilly, M. M.; Shy, M. E.; Zhai, R. G.; Zuchner, S.
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)
2022-01-01 Barc, J.; Tadros, R.; Glinge, C.; Chiang, D. Y.; Jouni, M.; Simonet, F.; Jurgens, S. J.; Baudic, M.; Nicastro, M.; Potet, F.; Offerhaus, J. A.; Walsh, R.; Choi, S. H.; Verkerk, A. O.; Mizusawa, Y.; Anys, S.; Minois, D.; Arnaud, M.; Duchateau, J.; Wijeyeratne, Y. D.; Muir, A.; Papadakis, M.; Castelletti, S.; Torchio, M.; Ortuno, C. G.; Lacunza, J.; Giachino, D. F.; Cerrato, N.; Martins, R. P.; Campuzano, O.; Van Dooren, S.; Thollet, A.; Kyndt, F.; Mazzanti, A.; Clementy, N.; Bisson, A.; Corveleyn, A.; Stallmeyer, B.; Dittmann, S.; Saenen, J.; Noel, A.; Honarbakhsh, S.; Rudic, B.; Marzak, H.; Rowe, M. K.; Federspiel, C.; Le Page, S.; Placide, L.; Milhem, A.; Barajas-Martinez, H.; Beckmann, B. -M.; Krapels, I. P.; Steinfurt, J.; Winkel, B. G.; Jabbari, R.; Shoemaker, M. B.; Boukens, B. J.; Skoric-Milosavljevic, D.; Bikker, H.; Manevy, F.; Lichtner, P.; Ribases, M.; Meitinger, T.; Muller-Nurasyid, M.; Strauch, K.; Peters, A.; Schulz, H.; Schwettmann, L.; Leidl, R.; Heier, M.; Veldink, J. H.; van den Berg, L. H.; Van Damme, P.; Cusi, D.; Lanzani, C.; Rigade, S.; Charpentier, E.; Baron, E.; Bonnaud, S.; Lecointe, S.; Donnart, A.; Le Marec, H.; Chatel, S.; Karakachoff, M.; Bezieau, S.; London, B.; Tfelt-Hansen, J.; Roden, D.; Odening, K. E.; Cerrone, M.; Chinitz, L. A.; Volders, P. G.; van de Berg, M. P.; Laurent, G.; Faivre, L.; Antzelevitch, C.; Kaab, S.; Arnaout, A. A.; Dupuis, J. -M.; Pasquie, J. -L.; Billon, O.; Roberts, J. D.; Jesel, L.; Borggrefe, M.; Lambiase, P. D.; Mansourati, J.; Loeys, B.; Leenhardt, A.; Guicheney, P.; Maury, P.; Schulze-Bahr, E.; Robyns, T.; Breckpot, J.; Babuty, D.; Priori, S. G.; Napolitano, C.; Defaye, P.; Anselme, F.; Darmon, J. P.; Wiart, F.; de Asmundis, C.; Brugada, P.; Brugada, R.; Arbelo, E.; Brugada, J.; Mabo, P.; Behar, N.; Giustetto, C.; Molina, M. S.; Gimeno, J. R.; Hasdemir, C.; Schwartz, P. J.; Crotti, L.; Mckeown, P. P.; Sharma, S.; Behr, E. R.; Haissaguerre, M.; Sacher, F.; Rooryck, C.; Tan, H. L.; Remme, C. A.; Postema, P. G.; Delmar, M.; Ellinor, P. T.; Lubitz, S. A.; Gourraud, J. -B.; Tanck, M. W.; George, A. L.; Macrae, C. A.; Burridge, P. W.; Dina, C.; Probst, V.; Wilde, A. A.; Schott, J. -J.; Redon, R.; Bezzina, C. R.
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.
2012-01-01 Stahl, Ea; Wegmann, D; Trynka, G; Gutierrez Achury, J; Do, R; Voight, Bf; Kraft, P; Chen, R; Kallberg, Hj; Kurreeman, Fa; Diabetes Genetics, Replication; Meta analysis, Consortium; Myocardial Infarction Genetics, Consortium; Kathiresan, S; Wijmenga, C; Gregersen, Pk; Alfredsson, L; Siminovitch, Ka; Worthington, J; de Bakker, Pi; Raychaudhuri, S; Plenge, Rm; Voight, Bf; Scott, Lj; Steinthorsdottir, V; Morris, Ap; Dina, C; Welch, Rp; Zeggini, E; Huth, C; Aulchenko, Ys; Thorleifsson, G; Mcculloch, Lj; Ferreira, T; Grallert, H; Amin, N; Wu, G; Willer, Cj; Raychaudhuri, S; Mccarroll, Sa; Langenberg, C; Hofmann, Om; Dupuis, J; Qi, L; Segrè, Av; van Hoek, M; Navarro, P; Ardlie, K; Balkau, B; Benediktsson, R; Bennett, Aj; Blagieva, R; Boerwinkle, E; Bonnycastle, Ll; Boström, Kb; Bravenboer, B; Bumpstead, S; Burtt, Np; Charpentier, G; Chines, Ps; Cornelis, M; Couper, Dj; Crawford, G; Doney, As; Elliott, Ks; Elliott, Al; Erdos, Mr; Fox, Cs; Franklin, Cs; Ganser, M; Gieger, C; Grarup, N; Green, T; Griffin, S; Groves, Cj; Guiducci, C; Hadjadj, S; Hassanali, N; Herder, C; Isomaa, B; Jackson, Au; Johnson, Pr; Jørgensen, T; Kao, Wh; Klopp, N; Kong, A; Kraft, P; Kuusisto, J; Lauritzen, T; Li, M; Lieverse, A; Lindgren, Cm; Lyssenko, V; Marre, M; Meitinger, T; Midthjell, K; Morken, Ma; Narisu, N; Nilsson, P; Owen, Kr; Payne, F; Perry, Jr; Petersen, Ak; Platou, C; Proença, C; Prokopenko, I; Rathmann, W; Rayner, Nw; Robertson, Nr; Rocheleau, G; Roden, M; Sampson, Mj; Saxena, R; Shields, Bm; Shrader, P; Sigurdsson, G; Sparsø, T; Strassburger, K; Stringham, Hm; Sun, Q; Swift, Aj; Thorand, B; Tichet, J; Tuomi, T; van Dam, Rm; van Haeften, Tw; van Herpt, T; van Vliet Ostaptchouk, Jv; Walters, Gb; Weedon, Mn; Wijmenga, C; Witteman, J; Bergman, Rn; Cauchi, S; Collins, Fs; Gloyn, Al; Gyllensten, U; Hansen, T; Hide, Wa; Hitman, Ga; Hofman, A; Hunter, Dj; Hveem, K; Laakso, M; Mohlke, Kl; Morris, Ad; Palmer, Cn; Pramstaller, Pp; Rudan, I; Sijbrands, E; Stein, Ld; Tuomilehto, J; Uitterlinden, A; Walker, M; Wareham, Nj; Watanabe, Rm; Abecasis, Gr; Boehm, Bo; Campbell, H; Daly, Mj; Hattersley, At; Hu, Fb; Meigs, Jb; Pankow, Js; Pedersen, O; Wichmann, He; Barroso, I; Florez, Jc; Frayling, Tm; Groop, L; Sladek, R; Thorsteinsdottir, U; Wilson, Jf; Illig, T; Froguel, P; van Duijn, Cm; Stefansson, K; Altshuler, D; Boehnke, M; Mccarthy, Mi; Kathiresan, S; Meigs, Jb; Williams, G; Nathan, Dm; Macrae, Ca; O'Donnell, Cj; Ardissino, D; Merlini, Pa; Berzuini, C; Bernardinelli, Luisa; Peyvandi, F; Tubaro, M; Celli, P; Ferrario, M; Fetiveau, R; Marziliano, N; Casari, G; Galli, M; Ribichini, F; Rossi, M; Bernardi, F; Zonzin, P; Piazza, A; Mannucci, Pm; Schwartz, Sm; Siscovick, Ds; Yee, J; Friedlander, Y; Elosua, R; Marrugat, J; Lucas, G; Subirana, I; Sala, J; Ramos, R; Salomaa, V; Havulinna, As; Peltonen, L; Melander, O; Berglund, G; Voight, Bf; Kathiresan, S; Hirschhorn, Jn; Asselta, R; Duga, S; Spreafico, M; Musunuru, K; Daly, Mj; Purcell, S; Schwartz, Sm; Yee, J; Kathiresan, S; Lucas, G; Subirana, I; Elosua, R; Surti, A; Guiducci, C; Gianniny, L; Mirel, D; Parkin, M; Burtt, N; Gabriel, S. B.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
2019-01-01 Cortese, A.; Simone, R.; Sullivan, R.; Vandrovcova, J.; Tariq, H.; Yan, Y. W.; Humphrey, J.; Jaunmuktane, Z.; Sivakumar, P.; Polke, J.; Ilyas, M.; Tribollet, E.; Tomaselli, P. J.; Devigili, G.; Callegari, I.; Versino, M.; Salpietro, V.; Efthymiou, S.; Kaski, D.; Wood, N. W.; Andrade, N. S.; Buglo, E.; Rebelo, A.; Rossor, A. M.; Bronstein, A.; Fratta, P.; Marques, W. J.; Zuchner, S.; Reilly, M. M.; Houlden, H.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
2020-01-01 Cortese, A.; Zhu, Y.; Rebelo, A. P.; Negri, S.; Courel, S.; Abreu, L.; Bacon, C. J.; Bai, Y.; Bis-Brewer, D. M.; Bugiardini, E.; Buglo, E.; Danzi, M. C.; Feely, S. M. E.; Athanasiou-Fragkouli, A.; Haridy, N. A.; Rodriguez, A.; Bacha, A.; Kosikowski, A.; Wood, B.; Mccray, B.; Blume, B.; Siskind, C.; Sumner, C.; Calabrese, D.; Walk, D.; Vujovic, D.; Park, E.; Muntoni, F.; Donlevy, G.; Acsadi, G.; Day, J.; Burns, J.; Li, J.; Krajewski, K.; Eichinger, K.; Cornett, K.; Mullen, K.; Laura, P. Q.; Gutmann, L.; Barrett, M.; Saporta, M.; Skorupinska, M.; Grant, N.; Bray, P.; Seyedsadjadi, R.; Zuccarino, R.; Finkel, R.; Lewis, R.; Yum, S.; Hilbert, S.; Thomas, S.; Behrens-Spraggins, S.; Jones, T.; Lloyd, T.; Grider, T.; Estilow, T.; Fridman, V.; Isasi, R.; Khan, A.; Laura, M.; Magri, S.; Pipis, M.; Pisciotta, C.; Powell, E.; Rossor, A. M.; Saveri, P.; Sowden, J. E.; Tozza, S.; Vandrovcova, J.; Dallman, J.; Grignani, E.; Marchioni, E.; Scherer, S. S.; Tang, B.; Lin, Z.; Al-Ajmi, A.; Schule, R.; Synofzik, M.; Maisonobe, T.; Stojkovic, T.; Auer-Grumbach, M.; Abdelhamed, M. A.; Hamed, S. A.; Zhang, R.; Manganelli, F.; Santoro, L.; Taroni, F.; Pareyson, D.; Houlden, H.; Herrmann, D. N.; Reilly, M. M.; Shy, M. E.; Zhai, R. G.; Zuchner, S.
Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
2017-01-01 Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R. C.; Zaki, Maha S.; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L.; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L.; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L.; Markmiller, Sebastian; Marin Valencia, Isaac; Davies, Justin H.; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Caglayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T.; Kibaek, Maria; Aldinger, Kimberly A.; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B.; Chi, Neil C.; Traver, David; Spaccini, Luigina; Bova, Stefania Maria; Gabrie, Stacey B.; Gunel, Murat; Valente, ENZA MARIA; Nassogne, Marie Cecile; Bennett, Eric J.; Yeo, Gene W.; Baas, Frank; Lykke Andersen, Jens; Gleeson, Joseph G.
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
2012-01-01 Lee, Ji Eun; Silhavy, Jennifer L.; Zaki, Maha S.; Schroth, Jana; Bielas, Stephanie L.; Marsh, Sarah E.; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M.; Merriman, Barry; Attie Bitach, Tania; Logan, Clare V.; Glass, Ian A.; Cluckey, Andrew; Louie, Carrie M.; Lee, Jeong Ho; Raynes, Hilary R.; Rapin, Isabelle; Castroviejo, Ignacio P.; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F.; Hildebrandt, Friedhelm; Johnson, Colin A.; Doherty, Daniel A.; Valente, ENZA MARIA; Gleeson, Joseph G.
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
2020-01-01 Uggenti, C.; Lepelley, A.; Depp, M.; Badrock, A. P.; Rodero, M. P.; El-Daher, M. -T.; Rice, G. I.; Dhir, S.; Wheeler, A. P.; Dhir, A.; Albawardi, W.; Fremond, M. -L.; Seabra, L.; Doig, J.; Blair, N.; Martin-Niclos, M. J.; Della Mina, E.; Rubio-Roldan, A.; Garcia-Perez, J. L.; Sproul, D.; Rehwinkel, J.; Hertzog, J.; Boland-Auge, A.; Olaso, R.; Deleuze, J. -F.; Baruteau, J.; Brochard, K.; Buckley, J.; Cavallera, V.; Cereda, C.; De Waele, L. M. H.; Dobbie, A.; Doummar, D.; Elmslie, F.; Koch-Hogrebe, M.; Kumar, R.; Lamb, K.; Livingston, J. H.; Majumdar, A.; Lorenco, C. M.; Orcesi, S.; Peudenier, S.; Rostasy, K.; Salmon, C. A.; Scott, C.; Tonduti, D.; Touati, G.; Valente, M.; van der Linden, H.; Van Esch, H.; Vermelle, M.; Webb, K.; Jackson, A. P.; Reijns, M. A. M.; Gilbert, N.; Crow, Y. J.
Characterization of greater middle eastern genetic variation for enhanced disease gene discovery
2016-01-01 Scott, E. M.; Halees, A.; Itan, Y.; Spencer, E. G.; He, Y.; Azab, M. A.; Gabriel, S. B.; Belkadi, A.; Boisson, B.; Abel, L.; Clark, A. G.; Rahim, S. A.; Alkuraya, F. S.; Casanova, J. -L.; Gleeson, J. G.; Abdou, M.; Abhytankar, A.; Adimi, P.; Ahmad, J.; Akcakus, M.; Aksu, G.; Al Hajjar, S.; Al Juamaah, S.; Al Muhsen, S.; Al Sannaa, N.; Al Tameni, S.; Al-Aama, J.; Al-Allawi, N.; Al-Baradie, R.; Al-Gazali, L.; Al-Hashem, A.; Al-Herz, W.; Al-Jeaid, D.; Al-Tawari, A.; Alangari, A.; Alcais, A.; Alfawaz, T. S.; Alsum, Z.; Ammar-Khodja, A.; Amouian, S.; Arikan, C.; Aryani, O.; Aslanger, A.; Aydogmus, C.; Aytekin, C.; Azam, M.; Bansagi, B.; Barbouche, M. -R.; Bastaki, L.; Ben-Omran, T.; Bindu, P. S.; Blancas, L.; Boisson-Dupuis, S.; Bonnet, D.; Stambouli, O. B.; Bousfiha, A.; Boussafara, L.; Boutros, J.; Bustamante, J.; Caksen, H.; Camcioglu, Y.; Catherinot, E.; Celik, F. C.; Ciancanelli, M.; Cipe, F. E.; Clark, G.; Cobat, A.; Comu, S.; Condie, A.; Condino-Neto, A.; Desai, M.; Dobyns, W.; Dogu, F.; Domaia, M.; Dorum, M.; Egritas, O.; El Azbaoui, S.; El Baghdadi, J.; El Ruby, M.; El-Harouni, A.; Elfeky, R. A.; Elghazali, G.; Faqeih, E.; Fenerci, E.; Fieschi, C.; Funda, C.; Gamal, I.; Gelik, U.; Genel, F.; Gezdirici, A.; Girisha, K. M.; Goldstein, A.; Grattan-Smith, P.; Gupta, N.; Hahn, J.; Hatipoglu, N.; Hennekam, R.; Houshmand, M.; Ichai, P.; Ikinciogullari, A.; Ismail, S.; Jalas, C.; Jouanguy, E.; Kabra, M.; Kalkan, G.; Kara, M.; Karaca, N.; Karaer, K.; Kariminejad, A.; Kayserili, H.; Keser-Emiroglu, M.; Kilic, S. S.; Kissani, N.; Kokron, C.; Koul, R.; Kutukculer, N.; Lanternier, F.; Mahdaviani, A.; Mahlaoui, N.; Mansour, L.; Mansouri, D.; Margari, L.; Valente, E. M.; Marzouki, N.; Masri, A.; Megahed, A.; Megahed, H.; Mekki, N.; Mesdaghi, M.; Mikati, M.; Mojahedi, F.; Mulley, J.; Nampoothiri, S.; Navarrete, C.; Omar, T.; Oraby, A.; Pandaluz, A.; Parvaneh, N.; Patiroglu, T.; Koc, Z. P.; Pellier, I.; Picard, C.; Puel, A.; Raas-Rothschild, A.; Rajab, A.; Raoult, D.; Reisli, I.; Rezaei, N.; Sabri, A.; Sahin, Y.; Saleem, L.; Salem, F.; Alsediq, N. S.; Sanal, O.; Sanger, T.; Shakankiry, H.; Shang, L.; Shehata, N.; Shembesh, N.; Shkalim, V.; Softah, A.; Sogaty, S.; Soliman, N.; Sonmez-Aunaci, F.; Sztriha, L.; Taibi-Berrah, L.; Temtamy, S.; Tonekaboni, H.; Trauner, D.; Tuysuz, B.; Varan, A.; Vogt, G.; Walsh, C.; Woods, G.; Yesil, G.; Yildiran, A.; Yildiz, B.; Yuksel, A.; Zaki, M.; Zhang, S. Y.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
2013-01-01 Bezzina, C. R.; Barc, J.; Mizusawa, Y.; Remme, C. A.; Gourraud, J. B.; Simonet, F.; Verkerk, A. O.; Schwartz, Peter; Crotti, Lia; Dagradi, Federica; Guicheney, P.; Fressart, V.; Leenhardt, A.; Antzelevitch, C.; Bartkowiak, S.; Borggrefe, M.; Schimpf, R.; Schulze Bahr, E.; Zumhagen, S.; Behr, E. R.; Bastiaenen, R.; Tfelt Hansen, J.; Olesen, M. S.; Kääb, S.; Beckmann, B. M.; Weeke, P.; Watanabe, H.; Endo, N.; Minamino, T.; Horie, M.; Ohno, S.; Hasegawa, K.; Makita, N.; Nogami, A.; Shimizu, W.; Aiba, T.; Froguel, P.; Balkau, B.; Lantieri, O.; Torchio, Margherita; Wiese, C.; Weber, D.; Wolswinkel, R.; Coronel, R.; Boukens, B. J.; Bézieau, S.; Charpentier, E.; Chatel, S.; Despres, A.; Gros, F.; Kyndt, F.; Lecointe, S.; Lindenbaum, P.; Portero, V.; Violleau, J.; Gessler, M.; Tan, H. L.; Roden, D. M.; Christoffels, V. M.; Le Marec, H.; Wilde, A. A.; Probst, V.; Schott, J. J.; Dina, C.; Redon, R.
Titolo | Data di pubblicazione | Autore(i) | File |
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A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal | 1-gen-1994 | Bardoni, B; Zanaria, E; Floridia, G; Worley, Kc; Toini, G; Ferrante, E; Chiumello, G; Mccabe, Erb; Fraccaro, Marco; Zuffardi, Orsetta; Camerino, G. | |
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. | 1-gen-1994 | Bardoni, B.; Zanaria, E.; Guioli, S.; Floridia, G.; Worley, K. C.; Tonini, G.; Ferrante, E.; Chiumello, G.; Mccabe, E. R.; Fraccaro, M.; Zuffardi, Orsetta; Camerino, Giovanna | |
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. | 1-gen-2008 | A. J., Sharp; H. C., Mefford; K., Li; C., Baker; C., Skinner; R. E., Stevenson; R. J., Schroer; F., Novara; M. D., Gregori; Ciccone, Roberto; A., Broomer; I., Casuga; Y., Wang; C., Xiao; C., Barbacioru; G., Gimelli; B. D., Bernardina; C., Torniero; R., Giorda; R., Regan; V., Murday; S., Mansour; M., Fichera; L., Castiglia; P., Failla; M., Ventura; Z., Jiang; G. M., Cooper; S. J., L.; C., Romano; O., Zuffardi; C., Chen; C. E., Schwartz; E. E., Eichler | |
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. | 1-gen-2008 | Sharp, Aj; Mefford, Hc; Li, K; Baker, C; Skinner, C; Stevenson, Re; Schroer, Rj; Novara, F; DE GREGORI, M; Ciccone, Roberto; Broomer, A; Casuga, I; Wang, Y; Xiao, C; Barbacioru, C; Gimelli, G; Bernardina, Bd; Torniero, C; Giorda, R; Regan, R; Murday, V; Mansour, S; Fichera, M; Castiglia, L; Failla, P; Ventura, M; Jiang, Z; Cooper, Gm; Knight, Sj; Romano, C; Zuffardi, Orsetta; Chen, C; Schwartz, Ce; Eichler, Ee | |
Achondrogenesis type 1B is caused by mutations in the diastrophic dysplasia sulfate transporter gene | 1-gen-1996 | SUPERTI FURGA, A.; Hastbacka, J.; Wilcox, W. R.; Cohn, D. H.; VAN DER HARTEN, H. J.; Rossi, Antonio; Blau, N.; Rimoin, D. L.; Steinmann, B.; Lander, E. S.; Gitzelamann, R. | |
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis | 1-gen-2010 | Louie, Carrie M.; Caridi, Gianluca; Lopes, Vanda S.; Brancati, Francesco; Kispert, Andreas; Lancaster, Madeline A.; Schlossman, Andrew M.; Otto, Edgar A.; Leitges, Michael; Groene, Hermann Josef; Lopez, Irma; Gudiseva, Harini V.; O'Toole, John F.; Vallespin, Elena; Ayyagari, Radha; Ayuso, Carmen; Cremers, Frans P. M.; den Hollander, Anneke I.; Koenekoop, Robert K.; Dallapiccola, Bruno; Ghiggeri, Gian Marco; Hildebrandt, Friedhelm; Valente, ENZA MARIA; Williams, David S.; Gleeson, Joseph G. | |
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis | 1-gen-2013 | International Multiple Sclerosis Genetics, Consortium; Beecham, Ah; Patsopoulos, Na; Xifara, Dk; Davis, Mf; Kemppinen, A; Cotsapas, C; Shah, Ts; Spencer, C; Booth, D; Goris, A; Oturai, A; Saarela, J; Fontaine, B; Hemmer, B; Martin, C; Zipp, F; D'Alfonso, S; Martinelli Boneschi, F; Taylor, B; Harbo, Hf; Kockum, I; Hillert, J; Olsson, T; Ban, M; Oksenberg, Jr; Hintzen, R; Barcellos, Lf; Wellcome Trust Case Control Consortium, 2; International IBD Genetics, Consortium; Agliardi, C; Alfredsson, L; Alizadeh, M; Anderson, C; Andrews, R; Søndergaard, Hb; Baker, A; Band, G; Baranzini, Se; Barizzone, N; Barrett, J; Bellenguez, C; Bergamaschi, L; Bernardinelli, Luisa; Berthele, A; Biberacher, V; Binder, Tm; Blackburn, H; Bomfim, Il; Brambilla, P; Broadley, S; Brochet, B; Brundin, L; Buck, D; Butzkueven, H; Caillier, Sj; Camu, W; Carpentier, W; Cavalla, P; Celius, Eg; Coman, I; Comi, G; Corrado, L; Cosemans, L; Cournu Rebeix, I; Cree, Ba; Cusi, D; Damotte, V; Defer, G; Delgado, Sr; Deloukas, P; di Sapio, A; Dilthey, At; Donnelly, P; Dubois, B; Duddy, M; Edkins, S; Elovaara, I; Esposito, F; Evangelou, N; Fiddes, B; Field, J; Franke, A; Freeman, C; Frohlich, Iy; Galimberti, D; Gieger, C; Gourraud, Pa; Graetz, C; Graham, A; Grummel, V; Guaschino, C; Hadjixenofontos, A; Hakonarson, H; Halfpenny, C; Hall, G; Hall, P; Hamsten, A; Harley, J; Harrower, T; Hawkins, C; Hellenthal, G; Hillier, C; Hobart, J; Hoshi, M; Hunt, Se; Jagodic, M; Jelčić, I; Jochim, A; Kendall, B; Kermode, A; Kilpatrick, T; Koivisto, K; Konidari, I; Korn, T; Kronsbein, H; Langford, C; Larsson, M; Lathrop, M; Lebrun Frenay, C; Lechner Scott, J; Lee, Mh; Leone, Ma; Leppä, V; Liberatore, G; Lie, Ba; Lill, Cm; Lindén, M; Link, J; Luessi, F; Lycke, J; Macciardi, F; Männistö, S; Manrique, Cp; Martin, R; Martinelli, V; Mason, D; Mazibrada, G; Mccabe, C; Mero, Il; Mescheriakova, J; Moutsianas, L; Myhr, Km; Nagels, G; Nicholas, R; Nilsson, P; Piehl, F; Pirinen, M; Price, Se; Quach, H; Reunanen, M; Robberecht, W; Robertson, Np; Rodegher, M; Rog, D; Salvetti, M; Schnetz Boutaud, Nc; Sellebjerg, F; Selter, Rc; Schaefer, C; Shaunak, S; Shen, L; Shields, S; Siffrin, V; Slee, M; Sorensen, Ps; Sorosina, M; Sospedra, M; Spurkland, A; Strange, A; Sundqvist, E; Thijs, V; Thorpe, J; Ticca, A; Tienari, P; van Duijn, C; Visser, Em; Vucic, S; Westerlind, H; Wiley, Js; Wilkins, A; Wilson, Jf; Winkelmann, J; Zajicek, J; Zindler, E; Haines, Jl; Pericak Vance, Ma; Ivinson, Aj; Stewart, G; Hafler, D; Hauser, Sl; Compston, A; Mcvean, G; De Jager, P; Sawcer, Sj; Mccauley, Jl | |
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics | 1-gen-2015 | Hrabě de Angelis, Martin; Nicholson, George; Selloum, Mohammed; White, Jacqueline K; Morgan, Hugh; Ramirez-Solis, Ramiro; Sorg, Tania; Wells, Sara; Fuchs, Helmut; Fray, Martin; Adams, David J; Adams, Niels C; Adler, Thure; Aguilar-Pimentel, Antonio; Ali-Hadji, Dalila; Amann, Gregory; André, Philippe; Atkins, Sarah; Auburtin, Aurelie; Ayadi, Abdel; Becker, Julien; Becker, Lore; Bedu, Elodie; Bekeredjian, Raffi; Birling, Marie-Christine; Blake, Andrew; Bottomley, Joanna; Bowl, Michael R; Brault, Véronique; Busch, Dirk H; Bussell, James N; Calzada-Wack, Julia; Cater, Heather; Champy, Marie-France; Charles, Philippe; Chevalier, Claire; Chiani, Francesco; Codner, Gemma F; Combe, Roy; Cox, Roger; Dalloneau, Emilie; Dierich, André; Di Fenza, Armida; Doe, Brendan; Duchon, Arnaud; Eickelberg, Oliver; Esapa, Chris T; Fertak, Lahcen El; Feigel, Tanja; Emelyanova, Irina; Estabel, Jeanne; Favor, Jack; Flenniken, Ann; Gambadoro, Alessia; Garrett, Lilian; Gates, Hilary; Gerdin, Anna-Karin; Gkoutos, George; Greenaway, Simon; Glasl, Lisa; Goetz, Patrice; Da Cruz, Isabelle Goncalves; Götz, Alexander; Graw, Jochen; Guimond, Alain; Hans, Wolfgang; Hicks, Geoff; Hölter, Sabine M; Höfler, Heinz; Hancock, John M; Hoehndorf, Robert; Hough, Tertius; Houghton, Richard; Hurt, Anja; Ivandic, Boris; Jacobs, Hughes; Jacquot, Sylvie; Jones, Nora; Karp, Natasha A; Katus, Hugo A; Kitchen, Sharon; Klein-Rodewald, Tanja; Klingenspor, Martin; Klopstock, Thomas; Lalanne, Valerie; Leblanc, Sophie; Lengger, Christoph; le Marchand, Elise; Ludwig, Tonia; Lux, Aline; Mckerlie, Colin; Maier, Holger; Mandel, Jean-Louis; Marschall, Susan; Mark, Manuel; Melvin, David G; Meziane, Hamid; Micklich, Kateryna; Mittelhauser, Christophe; Monassier, Laurent; Moulaert, David; Muller, Stéphanie; Naton, Beatrix; Neff, Frauke; Nolan, Patrick M; Nutter, Lauryl M J; Ollert, Markus; Pavlovic, Guillaume; Pellegata, Natalia S; Peter, Emilie; Petit-Demoulière, Benoit; Pickard, Amanda; Podrini, Christine; Potter, Paul; Pouilly, Laurent; Puk, Oliver; Richardson, David; Rousseau, Stephane; Quintanilla-Fend, Leticia; Quwailid, Mohamed M; Racz, Ildiko; Rathkolb, Birgit; Riet, Fabrice; Rossant, Janet; Roux, Michel; Rozman, Jan; Ryder, Edward; Salisbury, Jennifer; Santos, Luis; Schäble, Karl-Heinz; Schiller, Evelyn; Schrewe, Anja; Schulz, Holger; Steinkamp, Ralf; Simon, Michelle; Stewart, Michelle; Stöger, Claudia; Stöger, Tobias; Sun, Minxuan; Sunter, David; Teboul, Lydia; Tilly, Isabelle; Tocchini-Valentini, Glauco P; Tost, Monica; Treise, Irina; Vasseur, Laurent; Velot, Emilie; Vogt-Weisenhorn, Daniela; Wagner, Christelle; Walling, Alison; Wattenhofer-Donze, Marie; Weber, Bruno; Wendling, Olivia; Westerberg, Henrik; Willershäuser, Monja; Wolf, Eckhard; Wolter, Anne; Wood, Joe; Wurst, Wolfgang; Yildirim, Ali Önder; Zeh, Ramona; Zimmer, Andreas; Zimprich, Annemarie; Holmes, Chris; Steel, Karen P; Herault, Yann; Gailus-Durner, Valérie; Mallon, Ann-Marie; Brown, Steve D M | |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database | 1-gen-2014 | Thompson, Ba; Spurdle, Ab; Plazzer, Jp; Greenblatt, Ms; Newcomb P, . . .; Sarin, R; Haile, R; Hofstra, R; Ward, R; Tricarico, R; Bacares R et, Al. | |
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4) | 1-gen-2019 | Cortese, A.; Simone, R.; Sullivan, R.; Vandrovcova, J.; Tariq, H.; Yau, W. Y.; Humphrey, J.; Jaunmuktane, Z.; Sivakumar, P.; Polke, J.; Ilyas, M.; Tribollet, E.; Tomaselli, P. J.; Devigili, G.; Callegari, I.; Versino, M.; Salpietro, V.; Efthymiou, S.; Kaski, D.; Wood, N. W.; Andrade, N. S.; Buglo, E.; Rebelo, A.; Rossor, A. M.; Bronstein, A.; Fratta, P.; Marques, W. J.; Zuchner, S.; Reilly, M. M.; Houlden, H. | |
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4) | 1-gen-2020 | Cortese, A.; Zhu, Y.; Rebelo, A. P.; Negri, S.; Courel, S.; Abreu, L.; Bacon, C. J.; Bai, Y.; Bis-Brewer, D. M.; Bugiardini, E.; Buglo, E.; Danzi, M. C.; Feely, S. M. E.; Athanasiou-Fragkouli, A.; Haridy, N. A.; Rodriguez, A.; Bacha, A.; Kosikowski, A.; Wood, B.; Mccray, B.; Blume, B.; Siskind, C.; Sumner, C.; Calabrese, D.; Walk, D.; Vujovic, D.; Park, E.; Muntoni, F.; Donlevy, G.; Acsadi, G.; Day, J.; Burns, J.; Li, J.; Krajewski, K.; Eichinger, K.; Cornett, K.; Mullen, K.; Laura, P. Q.; Gutmann, L.; Barrett, M.; Saporta, M.; Skorupinska, M.; Grant, N.; Bray, P.; Seyedsadjadi, R.; Zuccarino, R.; Finkel, R.; Lewis, R.; Yum, S.; Hilbert, S.; Thomas, S.; Behrens-Spraggins, S.; Jones, T.; Lloyd, T.; Grider, T.; Estilow, T.; Fridman, V.; Isasi, R.; Khan, A.; Laura, M.; Magri, S.; Pipis, M.; Pisciotta, C.; Powell, E.; Rossor, A. M.; Saveri, P.; Sowden, J. E.; Tozza, S.; Vandrovcova, J.; Dallman, J.; Grignani, E.; Marchioni, E.; Scherer, S. S.; Tang, B.; Lin, Z.; Al-Ajmi, A.; Schule, R.; Synofzik, M.; Maisonobe, T.; Stojkovic, T.; Auer-Grumbach, M.; Abdelhamed, M. A.; Hamed, S. A.; Zhang, R.; Manganelli, F.; Santoro, L.; Taroni, F.; Pareyson, D.; Houlden, H.; Herrmann, D. N.; Reilly, M. M.; Shy, M. E.; Zhai, R. G.; Zuchner, S. | |
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6) | 1-gen-2022 | Barc, J.; Tadros, R.; Glinge, C.; Chiang, D. Y.; Jouni, M.; Simonet, F.; Jurgens, S. J.; Baudic, M.; Nicastro, M.; Potet, F.; Offerhaus, J. A.; Walsh, R.; Choi, S. H.; Verkerk, A. O.; Mizusawa, Y.; Anys, S.; Minois, D.; Arnaud, M.; Duchateau, J.; Wijeyeratne, Y. D.; Muir, A.; Papadakis, M.; Castelletti, S.; Torchio, M.; Ortuno, C. G.; Lacunza, J.; Giachino, D. F.; Cerrato, N.; Martins, R. P.; Campuzano, O.; Van Dooren, S.; Thollet, A.; Kyndt, F.; Mazzanti, A.; Clementy, N.; Bisson, A.; Corveleyn, A.; Stallmeyer, B.; Dittmann, S.; Saenen, J.; Noel, A.; Honarbakhsh, S.; Rudic, B.; Marzak, H.; Rowe, M. K.; Federspiel, C.; Le Page, S.; Placide, L.; Milhem, A.; Barajas-Martinez, H.; Beckmann, B. -M.; Krapels, I. P.; Steinfurt, J.; Winkel, B. G.; Jabbari, R.; Shoemaker, M. B.; Boukens, B. J.; Skoric-Milosavljevic, D.; Bikker, H.; Manevy, F.; Lichtner, P.; Ribases, M.; Meitinger, T.; Muller-Nurasyid, M.; Strauch, K.; Peters, A.; Schulz, H.; Schwettmann, L.; Leidl, R.; Heier, M.; Veldink, J. H.; van den Berg, L. H.; Van Damme, P.; Cusi, D.; Lanzani, C.; Rigade, S.; Charpentier, E.; Baron, E.; Bonnaud, S.; Lecointe, S.; Donnart, A.; Le Marec, H.; Chatel, S.; Karakachoff, M.; Bezieau, S.; London, B.; Tfelt-Hansen, J.; Roden, D.; Odening, K. E.; Cerrone, M.; Chinitz, L. A.; Volders, P. G.; van de Berg, M. P.; Laurent, G.; Faivre, L.; Antzelevitch, C.; Kaab, S.; Arnaout, A. A.; Dupuis, J. -M.; Pasquie, J. -L.; Billon, O.; Roberts, J. D.; Jesel, L.; Borggrefe, M.; Lambiase, P. D.; Mansourati, J.; Loeys, B.; Leenhardt, A.; Guicheney, P.; Maury, P.; Schulze-Bahr, E.; Robyns, T.; Breckpot, J.; Babuty, D.; Priori, S. G.; Napolitano, C.; Defaye, P.; Anselme, F.; Darmon, J. P.; Wiart, F.; de Asmundis, C.; Brugada, P.; Brugada, R.; Arbelo, E.; Brugada, J.; Mabo, P.; Behar, N.; Giustetto, C.; Molina, M. S.; Gimeno, J. R.; Hasdemir, C.; Schwartz, P. J.; Crotti, L.; Mckeown, P. P.; Sharma, S.; Behr, E. R.; Haissaguerre, M.; Sacher, F.; Rooryck, C.; Tan, H. L.; Remme, C. A.; Postema, P. G.; Delmar, M.; Ellinor, P. T.; Lubitz, S. A.; Gourraud, J. -B.; Tanck, M. W.; George, A. L.; Macrae, C. A.; Burridge, P. W.; Dina, C.; Probst, V.; Wilde, A. A.; Schott, J. -J.; Redon, R.; Bezzina, C. R. | |
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. | 1-gen-2012 | Stahl, Ea; Wegmann, D; Trynka, G; Gutierrez Achury, J; Do, R; Voight, Bf; Kraft, P; Chen, R; Kallberg, Hj; Kurreeman, Fa; Diabetes Genetics, Replication; Meta analysis, Consortium; Myocardial Infarction Genetics, Consortium; Kathiresan, S; Wijmenga, C; Gregersen, Pk; Alfredsson, L; Siminovitch, Ka; Worthington, J; de Bakker, Pi; Raychaudhuri, S; Plenge, Rm; Voight, Bf; Scott, Lj; Steinthorsdottir, V; Morris, Ap; Dina, C; Welch, Rp; Zeggini, E; Huth, C; Aulchenko, Ys; Thorleifsson, G; Mcculloch, Lj; Ferreira, T; Grallert, H; Amin, N; Wu, G; Willer, Cj; Raychaudhuri, S; Mccarroll, Sa; Langenberg, C; Hofmann, Om; Dupuis, J; Qi, L; Segrè, Av; van Hoek, M; Navarro, P; Ardlie, K; Balkau, B; Benediktsson, R; Bennett, Aj; Blagieva, R; Boerwinkle, E; Bonnycastle, Ll; Boström, Kb; Bravenboer, B; Bumpstead, S; Burtt, Np; Charpentier, G; Chines, Ps; Cornelis, M; Couper, Dj; Crawford, G; Doney, As; Elliott, Ks; Elliott, Al; Erdos, Mr; Fox, Cs; Franklin, Cs; Ganser, M; Gieger, C; Grarup, N; Green, T; Griffin, S; Groves, Cj; Guiducci, C; Hadjadj, S; Hassanali, N; Herder, C; Isomaa, B; Jackson, Au; Johnson, Pr; Jørgensen, T; Kao, Wh; Klopp, N; Kong, A; Kraft, P; Kuusisto, J; Lauritzen, T; Li, M; Lieverse, A; Lindgren, Cm; Lyssenko, V; Marre, M; Meitinger, T; Midthjell, K; Morken, Ma; Narisu, N; Nilsson, P; Owen, Kr; Payne, F; Perry, Jr; Petersen, Ak; Platou, C; Proença, C; Prokopenko, I; Rathmann, W; Rayner, Nw; Robertson, Nr; Rocheleau, G; Roden, M; Sampson, Mj; Saxena, R; Shields, Bm; Shrader, P; Sigurdsson, G; Sparsø, T; Strassburger, K; Stringham, Hm; Sun, Q; Swift, Aj; Thorand, B; Tichet, J; Tuomi, T; van Dam, Rm; van Haeften, Tw; van Herpt, T; van Vliet Ostaptchouk, Jv; Walters, Gb; Weedon, Mn; Wijmenga, C; Witteman, J; Bergman, Rn; Cauchi, S; Collins, Fs; Gloyn, Al; Gyllensten, U; Hansen, T; Hide, Wa; Hitman, Ga; Hofman, A; Hunter, Dj; Hveem, K; Laakso, M; Mohlke, Kl; Morris, Ad; Palmer, Cn; Pramstaller, Pp; Rudan, I; Sijbrands, E; Stein, Ld; Tuomilehto, J; Uitterlinden, A; Walker, M; Wareham, Nj; Watanabe, Rm; Abecasis, Gr; Boehm, Bo; Campbell, H; Daly, Mj; Hattersley, At; Hu, Fb; Meigs, Jb; Pankow, Js; Pedersen, O; Wichmann, He; Barroso, I; Florez, Jc; Frayling, Tm; Groop, L; Sladek, R; Thorsteinsdottir, U; Wilson, Jf; Illig, T; Froguel, P; van Duijn, Cm; Stefansson, K; Altshuler, D; Boehnke, M; Mccarthy, Mi; Kathiresan, S; Meigs, Jb; Williams, G; Nathan, Dm; Macrae, Ca; O'Donnell, Cj; Ardissino, D; Merlini, Pa; Berzuini, C; Bernardinelli, Luisa; Peyvandi, F; Tubaro, M; Celli, P; Ferrario, M; Fetiveau, R; Marziliano, N; Casari, G; Galli, M; Ribichini, F; Rossi, M; Bernardi, F; Zonzin, P; Piazza, A; Mannucci, Pm; Schwartz, Sm; Siscovick, Ds; Yee, J; Friedlander, Y; Elosua, R; Marrugat, J; Lucas, G; Subirana, I; Sala, J; Ramos, R; Salomaa, V; Havulinna, As; Peltonen, L; Melander, O; Berglund, G; Voight, Bf; Kathiresan, S; Hirschhorn, Jn; Asselta, R; Duga, S; Spreafico, M; Musunuru, K; Daly, Mj; Purcell, S; Schwartz, Sm; Yee, J; Kathiresan, S; Lucas, G; Subirana, I; Elosua, R; Surti, A; Guiducci, C; Gianniny, L; Mirel, D; Parkin, M; Burtt, N; Gabriel, S. B. | |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia | 1-gen-2019 | Cortese, A.; Simone, R.; Sullivan, R.; Vandrovcova, J.; Tariq, H.; Yan, Y. W.; Humphrey, J.; Jaunmuktane, Z.; Sivakumar, P.; Polke, J.; Ilyas, M.; Tribollet, E.; Tomaselli, P. J.; Devigili, G.; Callegari, I.; Versino, M.; Salpietro, V.; Efthymiou, S.; Kaski, D.; Wood, N. W.; Andrade, N. S.; Buglo, E.; Rebelo, A.; Rossor, A. M.; Bronstein, A.; Fratta, P.; Marques, W. J.; Zuchner, S.; Reilly, M. M.; Houlden, H. | |
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes | 1-gen-2020 | Cortese, A.; Zhu, Y.; Rebelo, A. P.; Negri, S.; Courel, S.; Abreu, L.; Bacon, C. J.; Bai, Y.; Bis-Brewer, D. M.; Bugiardini, E.; Buglo, E.; Danzi, M. C.; Feely, S. M. E.; Athanasiou-Fragkouli, A.; Haridy, N. A.; Rodriguez, A.; Bacha, A.; Kosikowski, A.; Wood, B.; Mccray, B.; Blume, B.; Siskind, C.; Sumner, C.; Calabrese, D.; Walk, D.; Vujovic, D.; Park, E.; Muntoni, F.; Donlevy, G.; Acsadi, G.; Day, J.; Burns, J.; Li, J.; Krajewski, K.; Eichinger, K.; Cornett, K.; Mullen, K.; Laura, P. Q.; Gutmann, L.; Barrett, M.; Saporta, M.; Skorupinska, M.; Grant, N.; Bray, P.; Seyedsadjadi, R.; Zuccarino, R.; Finkel, R.; Lewis, R.; Yum, S.; Hilbert, S.; Thomas, S.; Behrens-Spraggins, S.; Jones, T.; Lloyd, T.; Grider, T.; Estilow, T.; Fridman, V.; Isasi, R.; Khan, A.; Laura, M.; Magri, S.; Pipis, M.; Pisciotta, C.; Powell, E.; Rossor, A. M.; Saveri, P.; Sowden, J. E.; Tozza, S.; Vandrovcova, J.; Dallman, J.; Grignani, E.; Marchioni, E.; Scherer, S. S.; Tang, B.; Lin, Z.; Al-Ajmi, A.; Schule, R.; Synofzik, M.; Maisonobe, T.; Stojkovic, T.; Auer-Grumbach, M.; Abdelhamed, M. A.; Hamed, S. A.; Zhang, R.; Manganelli, F.; Santoro, L.; Taroni, F.; Pareyson, D.; Houlden, H.; Herrmann, D. N.; Reilly, M. M.; Shy, M. E.; Zhai, R. G.; Zuchner, S. | |
Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing | 1-gen-2017 | Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R. C.; Zaki, Maha S.; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L.; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L.; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L.; Markmiller, Sebastian; Marin Valencia, Isaac; Davies, Justin H.; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Caglayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T.; Kibaek, Maria; Aldinger, Kimberly A.; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B.; Chi, Neil C.; Traver, David; Spaccini, Luigina; Bova, Stefania Maria; Gabrie, Stacey B.; Gunel, Murat; Valente, ENZA MARIA; Nassogne, Marie Cecile; Bennett, Eric J.; Yeo, Gene W.; Baas, Frank; Lykke Andersen, Jens; Gleeson, Joseph G. | |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium | 1-gen-2012 | Lee, Ji Eun; Silhavy, Jennifer L.; Zaki, Maha S.; Schroth, Jana; Bielas, Stephanie L.; Marsh, Sarah E.; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M.; Merriman, Barry; Attie Bitach, Tania; Logan, Clare V.; Glass, Ian A.; Cluckey, Andrew; Louie, Carrie M.; Lee, Jeong Ho; Raynes, Hilary R.; Rapin, Isabelle; Castroviejo, Ignacio P.; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F.; Hildebrandt, Friedhelm; Johnson, Colin A.; Doherty, Daniel A.; Valente, ENZA MARIA; Gleeson, Joseph G. | |
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing | 1-gen-2020 | Uggenti, C.; Lepelley, A.; Depp, M.; Badrock, A. P.; Rodero, M. P.; El-Daher, M. -T.; Rice, G. I.; Dhir, S.; Wheeler, A. P.; Dhir, A.; Albawardi, W.; Fremond, M. -L.; Seabra, L.; Doig, J.; Blair, N.; Martin-Niclos, M. J.; Della Mina, E.; Rubio-Roldan, A.; Garcia-Perez, J. L.; Sproul, D.; Rehwinkel, J.; Hertzog, J.; Boland-Auge, A.; Olaso, R.; Deleuze, J. -F.; Baruteau, J.; Brochard, K.; Buckley, J.; Cavallera, V.; Cereda, C.; De Waele, L. M. H.; Dobbie, A.; Doummar, D.; Elmslie, F.; Koch-Hogrebe, M.; Kumar, R.; Lamb, K.; Livingston, J. H.; Majumdar, A.; Lorenco, C. M.; Orcesi, S.; Peudenier, S.; Rostasy, K.; Salmon, C. A.; Scott, C.; Tonduti, D.; Touati, G.; Valente, M.; van der Linden, H.; Van Esch, H.; Vermelle, M.; Webb, K.; Jackson, A. P.; Reijns, M. A. M.; Gilbert, N.; Crow, Y. J. | |
Characterization of greater middle eastern genetic variation for enhanced disease gene discovery | 1-gen-2016 | Scott, E. M.; Halees, A.; Itan, Y.; Spencer, E. G.; He, Y.; Azab, M. A.; Gabriel, S. B.; Belkadi, A.; Boisson, B.; Abel, L.; Clark, A. G.; Rahim, S. A.; Alkuraya, F. S.; Casanova, J. -L.; Gleeson, J. G.; Abdou, M.; Abhytankar, A.; Adimi, P.; Ahmad, J.; Akcakus, M.; Aksu, G.; Al Hajjar, S.; Al Juamaah, S.; Al Muhsen, S.; Al Sannaa, N.; Al Tameni, S.; Al-Aama, J.; Al-Allawi, N.; Al-Baradie, R.; Al-Gazali, L.; Al-Hashem, A.; Al-Herz, W.; Al-Jeaid, D.; Al-Tawari, A.; Alangari, A.; Alcais, A.; Alfawaz, T. S.; Alsum, Z.; Ammar-Khodja, A.; Amouian, S.; Arikan, C.; Aryani, O.; Aslanger, A.; Aydogmus, C.; Aytekin, C.; Azam, M.; Bansagi, B.; Barbouche, M. -R.; Bastaki, L.; Ben-Omran, T.; Bindu, P. S.; Blancas, L.; Boisson-Dupuis, S.; Bonnet, D.; Stambouli, O. B.; Bousfiha, A.; Boussafara, L.; Boutros, J.; Bustamante, J.; Caksen, H.; Camcioglu, Y.; Catherinot, E.; Celik, F. C.; Ciancanelli, M.; Cipe, F. E.; Clark, G.; Cobat, A.; Comu, S.; Condie, A.; Condino-Neto, A.; Desai, M.; Dobyns, W.; Dogu, F.; Domaia, M.; Dorum, M.; Egritas, O.; El Azbaoui, S.; El Baghdadi, J.; El Ruby, M.; El-Harouni, A.; Elfeky, R. A.; Elghazali, G.; Faqeih, E.; Fenerci, E.; Fieschi, C.; Funda, C.; Gamal, I.; Gelik, U.; Genel, F.; Gezdirici, A.; Girisha, K. M.; Goldstein, A.; Grattan-Smith, P.; Gupta, N.; Hahn, J.; Hatipoglu, N.; Hennekam, R.; Houshmand, M.; Ichai, P.; Ikinciogullari, A.; Ismail, S.; Jalas, C.; Jouanguy, E.; Kabra, M.; Kalkan, G.; Kara, M.; Karaca, N.; Karaer, K.; Kariminejad, A.; Kayserili, H.; Keser-Emiroglu, M.; Kilic, S. S.; Kissani, N.; Kokron, C.; Koul, R.; Kutukculer, N.; Lanternier, F.; Mahdaviani, A.; Mahlaoui, N.; Mansour, L.; Mansouri, D.; Margari, L.; Valente, E. M.; Marzouki, N.; Masri, A.; Megahed, A.; Megahed, H.; Mekki, N.; Mesdaghi, M.; Mikati, M.; Mojahedi, F.; Mulley, J.; Nampoothiri, S.; Navarrete, C.; Omar, T.; Oraby, A.; Pandaluz, A.; Parvaneh, N.; Patiroglu, T.; Koc, Z. P.; Pellier, I.; Picard, C.; Puel, A.; Raas-Rothschild, A.; Rajab, A.; Raoult, D.; Reisli, I.; Rezaei, N.; Sabri, A.; Sahin, Y.; Saleem, L.; Salem, F.; Alsediq, N. S.; Sanal, O.; Sanger, T.; Shakankiry, H.; Shang, L.; Shehata, N.; Shembesh, N.; Shkalim, V.; Softah, A.; Sogaty, S.; Soliman, N.; Sonmez-Aunaci, F.; Sztriha, L.; Taibi-Berrah, L.; Temtamy, S.; Tonekaboni, H.; Trauner, D.; Tuysuz, B.; Varan, A.; Vogt, G.; Walsh, C.; Woods, G.; Yesil, G.; Yildiran, A.; Yildiz, B.; Yuksel, A.; Zaki, M.; Zhang, S. Y. | |
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. | 1-gen-2013 | Bezzina, C. R.; Barc, J.; Mizusawa, Y.; Remme, C. A.; Gourraud, J. B.; Simonet, F.; Verkerk, A. O.; Schwartz, Peter; Crotti, Lia; Dagradi, Federica; Guicheney, P.; Fressart, V.; Leenhardt, A.; Antzelevitch, C.; Bartkowiak, S.; Borggrefe, M.; Schimpf, R.; Schulze Bahr, E.; Zumhagen, S.; Behr, E. R.; Bastiaenen, R.; Tfelt Hansen, J.; Olesen, M. S.; Kääb, S.; Beckmann, B. M.; Weeke, P.; Watanabe, H.; Endo, N.; Minamino, T.; Horie, M.; Ohno, S.; Hasegawa, K.; Makita, N.; Nogami, A.; Shimizu, W.; Aiba, T.; Froguel, P.; Balkau, B.; Lantieri, O.; Torchio, Margherita; Wiese, C.; Weber, D.; Wolswinkel, R.; Coronel, R.; Boukens, B. J.; Bézieau, S.; Charpentier, E.; Chatel, S.; Despres, A.; Gros, F.; Kyndt, F.; Lecointe, S.; Lindenbaum, P.; Portero, V.; Violleau, J.; Gessler, M.; Tan, H. L.; Roden, D. M.; Christoffels, V. M.; Le Marec, H.; Wilde, A. A.; Probst, V.; Schott, J. J.; Dina, C.; Redon, R. |
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