Sfoglia per Rivista NATURE GENETICS
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
2010-01-01 Cm, Louie; G, Caridi; Vs, Lopes; Brancati, Francesco; A, Kispert; Ma, Lancaster; Am, Schlossman; Ea, Otto; M, Leitges; H, Gröne; I, Lopez; Hv, Gudiseva; Jf, O'Toole; E, Vallespin; R, Ayyagari; C, Ayuso; Fp, M; Ai, Den; Rk, Koenekoop; B, Dallapiccola; Gm, Ghiggeri; F, Hildebrandt; Em, Valente; Ds, Williams; Jg, Gleeson
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
2012-01-01 Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié-Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Em; Gleeson, Jg
Erratum: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 (Nature Genetics (2014) 46 (427-429))
2014-01-01 Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russel, M. L.; Hendricks, W. P. D.; Corneveaux, J. J.; Barrett, M. T.; Shumansky, K.; Yang, Y.; Shah, S. P.; Prentice, L. M.; Marra, M. A.; Kiefer, J.; Zismann, V. L.; Mceachron, T. A.; Salhia, B.; Prat, J.; D'Angelo, E.; Clarke, B. A.; Pressey, J. G.; Farley, J. H.; Anthony, S. P.; Roden, R. B. S.; Cunliffe, H. E.; Huntsman, D. G.; Trent, J. M.
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
2020-01-01 Landi, M. T.; Bishop, D. T.; Macgregor, S.; Machiela, M. J.; Stratigos, A. J.; Ghiorzo, P.; Brossard, M.; Calista, D.; Choi, J.; Fargnoli, M. C.; Zhang, T.; Rodolfo, M.; Trower, A. J.; Menin, C.; Martinez, J.; Hadjisavvas, A.; Song, L.; Stefanaki, I.; Scolyer, R.; Yang, R.; Goldstein, A. M.; Potrony, M.; Kypreou, K. P.; Pastorino, L.; Queirolo, P.; Pellegrini, C.; Cattaneo, L.; Zawistowski, M.; Gimenez-Xavier, P.; Rodriguez, A.; Elefanti, L.; Manoukian, S.; Rivoltini, L.; Smith, B. H.; Loizidou, M. A.; Del Regno, L.; Massi, D.; Mandala, M.; Khosrotehrani, K.; Akslen, L. A.; Amos, C. I.; Andresen, P. A.; Avril, M. -F.; Azizi, E.; Soyer, H. P.; Bataille, V.; Dalmasso, B.; Bowdler, L. M.; Burdon, K. P.; Chen, W. V.; Codd, V.; Craig, J. E.; Debniak, T.; Falchi, M.; Fang, S.; Friedman, E.; Simi, S.; Galan, P.; Garcia-Casado, Z.; Gillanders, E. M.; Gordon, S.; Green, A.; Gruis, N. A.; Hansson, J.; Harland, M.; Harris, J.; Helsing, P.; Henders, A.; Hocevar, M.; Hoiom, V.; Hunter, D.; Ingvar, C.; Kumar, R.; Lang, J.; Lathrop, G. M.; Lee, J. E.; Li, X.; Lubinski, J.; Mackie, R. M.; Malt, M.; Malvehy, J.; Mcaloney, K.; Mohamdi, H.; Molven, A.; Moses, E. K.; Neale, R. E.; Novakovic, S.; Nyholt, D. R.; Olsson, H.; Orr, N.; Fritsche, L. G.; Puig-Butille, J. A.; Qureshi, A. A.; Radford-Smith, G. L.; Randerson-Moor, J.; Requena, C.; Rowe, C.; Samani, N. J.; Sanna, M.; Schadendorf, D.; Schulze, H. -J.; Simms, L. A.; Smithers, M.; Song, F.; Swerdlow, A. J.; van der Stoep, N.; Kukutsch, N. A.; Visconti, A.; Wallace, L.; Ward, S. V.; Wheeler, L.; Sturm, R. A.; Hutchinson, A.; Jones, K.; Malasky, M.; Vogt, A.; Zhou, W.; Pooley, K. A.; Elder, D. E.; Han, J.; Hicks, B.; Hayward, N. K.; Kanetsky, P. A.; Brummett, C.; Montgomery, G. W.; Olsen, C. M.; Hayward, C.; Dunning, A. M.; Martin, N. G.; Evangelou, E.; Mann, G. J.; Long, G.; Pharoah, P. D. P.; Easton, D. F.; Barrett, J. H.; Cust, A. E.; Abecasis, G.; Duffy, D. L.; Whiteman, D. C.; Gogas, H.; De Nicolo, A.; Tucker, M. A.; Newton-Bishop, J. A.; Peris, K.; Chanock, S. J.; Demenais, F.; Brown, K. M.; Puig, S.; Nagore, E.; Shi, J.; Iles, M. M.; Law, M. H.
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
2008-01-01 Hc, Hennies; U, Kornak; H, Zhang; J, Egerer; X, Zhang; W, Seifert; J, Kühnisch; B, Budde; M, Nätebus; Brancati, F.; Wr, Wilcox; D, Müller; Pb, Kaplan; A, Rajab; G, Zampino; V, Fodale; B, Dallapiccola; W, Newman; K, Metcalfe; J, CLAYTON-SMITH; M, Tassabehji; B, Steinmann; Fa, Barr; P, Nürnberg; P, Wieacker; S, Mundlos
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
2009-01-01 Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al-Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel-Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg
Mutations in PYCR1 cause cutis laxa with progeroid features.
2009-01-01 Reversade, B; Escande-Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al-Gazali, L; Shahwan, M; Brancati, F; Lee, H; O'Connor, Bd; Schmidt-von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome.
2006-01-01 Em, Valente; Jl, Silhavy; Brancati, F.; G, Barrano; Sr, Krishnaswami; M, Castori; Ma, Lancaster; E, Boltshauser; L, Boccone; L, AL-GAZALI; E, Fazzi; S, Signorini; Cm, Louie; E, Bellacchio; E, Bertini; B, DALLA PICCOLA; Gleeson, Jg
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
2010-01-01 Valente, Em; Logan, Cv; Mougou-Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, F; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, Je; Tolentino, Jc; Swistun, D; Salpietro, Cd; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, Ea; Held, S; Diplas, Bh; Davis, Ee; Mikula, M; Strom, Cm; Ben-Zeev, B; Lev, D; Sagie, Tl; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, Ca; Attié-Bitach, T; Gleeson, Jg
Osteoclast-poor human osteopetrosis due to mutations in RANKL
2007-01-01 Sobacchi, C; Frattini, A; Guerrini, M. M.; Abinun, M; Pangrazio, A; Susani, L; Bredius, R; Mancini, G; Cant, A; Bishop, N; Grabowski, P; DEL FATTORE, A; Messina, C; Errigo, G; Coxon, F. P.; Scott, D. I.; Teti, ANNA MARIA; Rogers, M. J.; Vezzoni, P; Villa, A; Helfrich, M. H.
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
2014-01-01 Shi, J; Yang, Xr; Ballew, B; Rotunno, M; Calista, D; Fargnoli, MARIA CONCETTA; Ghiorzo, P; Bressac de Paillerets, B; Nagore, E; Avril, Mf; Caporaso, Ne; Mcmaster, Ml; Cullen, M; Wang, Z; Zhang, X; NCI DCEG Cancer Sequencing Working, Group; NCI DCEG Cancer Genomics Research, Laboratory; French Familial Melanoma Study, Group; Bruno, W; Pastorino, L; Queirolo, P; Banuls Roca, J; Garcia Casado, Z; Vaysse, A; Mohamdi, H; Riazalhosseini, Y; Foglio, M; Jouenne, F; Hua, X; Hyland, Pl; Yin, J; Vallabhaneni, H; Chai, W; Minghetti, P; Pellegrini, C; Ravichandran, S; Eggermont, A; Lathrop, M; Peris, K; Scarra, Gb; Landi, G; Savage, Sa; Sampson, Jn; He, J; Yeager, M; Goldin, Lr; Demenais, F; Chanock, Sj; Tucker, Ma; Goldstein, Am; Liu, Y; Landi, M. T.
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4
2014-01-01 Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russell, M. L.; Hendricks, W. P. D.; Corneveaux, J. J.; Barrett, M. T.; Shumansky, K.; Yang, Y.; Shah, S. P.; Prentice, L. M.; Marra, M. A.; Kiefer, J.; Zismann, V. L.; Mceachron, T. A.; Salhia, B.; Prat, J.; D'Angelo, E.; Clarke, B. A.; Pressey, J. G.; Farley, J. H.; Anthony, S. P.; Roden, R. B. S.; Cunliffe, H. E.; Huntsman, D. G.; Trent, J. M.
A variant in FTO shows association with melanoma risk not due to BMI
2013-01-01 Iles, Mm; Law, Mh; Stacey, Sn; Han, J; Fang, S; Pfeiffer, R; Harland, M; Macgregor, S; Taylor, Jc; Aben, Kk; Akslen, La; Avril, Mf; Azizi, E; Bakker, B; Benediktsdottir, Kr; Bergman, W; Scarrà, Gb; Brown, Km; Calista, D; Chaudru, V; Fargnoli, MARIA CONCETTA; Cust, Ae; Demenais, F; de Waal, Ac; Dębniak, T; Elder, De; Friedman, E; Galan, P; Ghiorzo, P; Gillanders, Em; Goldstein, Am; Gruis, Na; Hansson, J; Helsing, P; Hočevar, M; Höiom, V; Hopper, Jl; Ingvar, C; Janssen, M; Jenkins, Ma; Kanetsky, Pa; Kiemeney, La; Lang, J; Lathrop, Gm; Leachman, S; Lee, Je; Lubiński, J; Mackie, Rm; Mann, Gj; Martin, Ng; Mayordomo, Ji; Molven, A; Mulder, S; Nagore, E; Novaković, S; Okamoto, I; Olafsson, Jh; Olsson, H; Pehamberger, H; Peris, Ketty; Grasa, Mp; Planelles, D; Puig, S; Puig Butille, Ja; Randerson Moor, J; Requena, C; Rivoltini, L; Rodolfo, M; Santinami, M; Sigurgeirsson, B; Snowden, H; Song, F; Sulem, P; Thorisdottir, K; Tuominen, R; Van Belle, P; van der Stoep, N; van Rossum, Mm; Wei, Q; Wendt, J; Zelenika, D; Zhang, M; Landi, Mt; Thorleifsson, G; Bishop, Dt; Amos, Ci; Hayward, Nk; Stefansson, K; Bishop, Ja; Barrett, Jh; Genomel, Consortium; Q., Mega; Amfs, Investigators
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. | 1-gen-2010 | Cm, Louie; G, Caridi; Vs, Lopes; Brancati, Francesco; A, Kispert; Ma, Lancaster; Am, Schlossman; Ea, Otto; M, Leitges; H, Gröne; I, Lopez; Hv, Gudiseva; Jf, O'Toole; E, Vallespin; R, Ayyagari; C, Ayuso; Fp, M; Ai, Den; Rk, Koenekoop; B, Dallapiccola; Gm, Ghiggeri; F, Hildebrandt; Em, Valente; Ds, Williams; Jg, Gleeson | |
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | 1-gen-2012 | Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié-Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Em; Gleeson, Jg | |
| Erratum: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 (Nature Genetics (2014) 46 (427-429)) | 1-gen-2014 | Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russel, M. L.; Hendricks, W. P. D.; Corneveaux, J. J.; Barrett, M. T.; Shumansky, K.; Yang, Y.; Shah, S. P.; Prentice, L. M.; Marra, M. A.; Kiefer, J.; Zismann, V. L.; Mceachron, T. A.; Salhia, B.; Prat, J.; D'Angelo, E.; Clarke, B. A.; Pressey, J. G.; Farley, J. H.; Anthony, S. P.; Roden, R. B. S.; Cunliffe, H. E.; Huntsman, D. G.; Trent, J. M. | |
| Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility | 1-gen-2020 | Landi, M. T.; Bishop, D. T.; Macgregor, S.; Machiela, M. J.; Stratigos, A. J.; Ghiorzo, P.; Brossard, M.; Calista, D.; Choi, J.; Fargnoli, M. C.; Zhang, T.; Rodolfo, M.; Trower, A. J.; Menin, C.; Martinez, J.; Hadjisavvas, A.; Song, L.; Stefanaki, I.; Scolyer, R.; Yang, R.; Goldstein, A. M.; Potrony, M.; Kypreou, K. P.; Pastorino, L.; Queirolo, P.; Pellegrini, C.; Cattaneo, L.; Zawistowski, M.; Gimenez-Xavier, P.; Rodriguez, A.; Elefanti, L.; Manoukian, S.; Rivoltini, L.; Smith, B. H.; Loizidou, M. A.; Del Regno, L.; Massi, D.; Mandala, M.; Khosrotehrani, K.; Akslen, L. A.; Amos, C. I.; Andresen, P. A.; Avril, M. -F.; Azizi, E.; Soyer, H. P.; Bataille, V.; Dalmasso, B.; Bowdler, L. M.; Burdon, K. P.; Chen, W. V.; Codd, V.; Craig, J. E.; Debniak, T.; Falchi, M.; Fang, S.; Friedman, E.; Simi, S.; Galan, P.; Garcia-Casado, Z.; Gillanders, E. M.; Gordon, S.; Green, A.; Gruis, N. A.; Hansson, J.; Harland, M.; Harris, J.; Helsing, P.; Henders, A.; Hocevar, M.; Hoiom, V.; Hunter, D.; Ingvar, C.; Kumar, R.; Lang, J.; Lathrop, G. M.; Lee, J. E.; Li, X.; Lubinski, J.; Mackie, R. M.; Malt, M.; Malvehy, J.; Mcaloney, K.; Mohamdi, H.; Molven, A.; Moses, E. K.; Neale, R. E.; Novakovic, S.; Nyholt, D. R.; Olsson, H.; Orr, N.; Fritsche, L. G.; Puig-Butille, J. A.; Qureshi, A. A.; Radford-Smith, G. L.; Randerson-Moor, J.; Requena, C.; Rowe, C.; Samani, N. J.; Sanna, M.; Schadendorf, D.; Schulze, H. -J.; Simms, L. A.; Smithers, M.; Song, F.; Swerdlow, A. J.; van der Stoep, N.; Kukutsch, N. A.; Visconti, A.; Wallace, L.; Ward, S. V.; Wheeler, L.; Sturm, R. A.; Hutchinson, A.; Jones, K.; Malasky, M.; Vogt, A.; Zhou, W.; Pooley, K. A.; Elder, D. E.; Han, J.; Hicks, B.; Hayward, N. K.; Kanetsky, P. A.; Brummett, C.; Montgomery, G. W.; Olsen, C. M.; Hayward, C.; Dunning, A. M.; Martin, N. G.; Evangelou, E.; Mann, G. J.; Long, G.; Pharoah, P. D. P.; Easton, D. F.; Barrett, J. H.; Cust, A. E.; Abecasis, G.; Duffy, D. L.; Whiteman, D. C.; Gogas, H.; De Nicolo, A.; Tucker, M. A.; Newton-Bishop, J. A.; Peris, K.; Chanock, S. J.; Demenais, F.; Brown, K. M.; Puig, S.; Nagore, E.; Shi, J.; Iles, M. M.; Law, M. H. | |
| Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin | 1-gen-2008 | Hc, Hennies; U, Kornak; H, Zhang; J, Egerer; X, Zhang; W, Seifert; J, Kühnisch; B, Budde; M, Nätebus; Brancati, F.; Wr, Wilcox; D, Müller; Pb, Kaplan; A, Rajab; G, Zampino; V, Fodale; B, Dallapiccola; W, Newman; K, Metcalfe; J, CLAYTON-SMITH; M, Tassabehji; B, Steinmann; Fa, Barr; P, Nürnberg; P, Wieacker; S, Mundlos | |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | 1-gen-2009 | Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al-Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel-Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg | |
| Mutations in PYCR1 cause cutis laxa with progeroid features. | 1-gen-2009 | Reversade, B; Escande-Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al-Gazali, L; Shahwan, M; Brancati, F; Lee, H; O'Connor, Bd; Schmidt-von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U | |
| Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. | 1-gen-2006 | Em, Valente; Jl, Silhavy; Brancati, F.; G, Barrano; Sr, Krishnaswami; M, Castori; Ma, Lancaster; E, Boltshauser; L, Boccone; L, AL-GAZALI; E, Fazzi; S, Signorini; Cm, Louie; E, Bellacchio; E, Bertini; B, DALLA PICCOLA; Gleeson, Jg | |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 1-gen-2010 | Valente, Em; Logan, Cv; Mougou-Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, F; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, Je; Tolentino, Jc; Swistun, D; Salpietro, Cd; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, Ea; Held, S; Diplas, Bh; Davis, Ee; Mikula, M; Strom, Cm; Ben-Zeev, B; Lev, D; Sagie, Tl; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, Ca; Attié-Bitach, T; Gleeson, Jg | |
| Osteoclast-poor human osteopetrosis due to mutations in RANKL | 1-gen-2007 | Sobacchi, C; Frattini, A; Guerrini, M. M.; Abinun, M; Pangrazio, A; Susani, L; Bredius, R; Mancini, G; Cant, A; Bishop, N; Grabowski, P; DEL FATTORE, A; Messina, C; Errigo, G; Coxon, F. P.; Scott, D. I.; Teti, ANNA MARIA; Rogers, M. J.; Vezzoni, P; Villa, A; Helfrich, M. H. | |
| Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma | 1-gen-2014 | Shi, J; Yang, Xr; Ballew, B; Rotunno, M; Calista, D; Fargnoli, MARIA CONCETTA; Ghiorzo, P; Bressac de Paillerets, B; Nagore, E; Avril, Mf; Caporaso, Ne; Mcmaster, Ml; Cullen, M; Wang, Z; Zhang, X; NCI DCEG Cancer Sequencing Working, Group; NCI DCEG Cancer Genomics Research, Laboratory; French Familial Melanoma Study, Group; Bruno, W; Pastorino, L; Queirolo, P; Banuls Roca, J; Garcia Casado, Z; Vaysse, A; Mohamdi, H; Riazalhosseini, Y; Foglio, M; Jouenne, F; Hua, X; Hyland, Pl; Yin, J; Vallabhaneni, H; Chai, W; Minghetti, P; Pellegrini, C; Ravichandran, S; Eggermont, A; Lathrop, M; Peris, K; Scarra, Gb; Landi, G; Savage, Sa; Sampson, Jn; He, J; Yeager, M; Goldin, Lr; Demenais, F; Chanock, Sj; Tucker, Ma; Goldstein, Am; Liu, Y; Landi, M. T. | |
| Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 | 1-gen-2014 | Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russell, M. L.; Hendricks, W. P. D.; Corneveaux, J. J.; Barrett, M. T.; Shumansky, K.; Yang, Y.; Shah, S. P.; Prentice, L. M.; Marra, M. A.; Kiefer, J.; Zismann, V. L.; Mceachron, T. A.; Salhia, B.; Prat, J.; D'Angelo, E.; Clarke, B. A.; Pressey, J. G.; Farley, J. H.; Anthony, S. P.; Roden, R. B. S.; Cunliffe, H. E.; Huntsman, D. G.; Trent, J. M. | |
| A variant in FTO shows association with melanoma risk not due to BMI | 1-gen-2013 | Iles, Mm; Law, Mh; Stacey, Sn; Han, J; Fang, S; Pfeiffer, R; Harland, M; Macgregor, S; Taylor, Jc; Aben, Kk; Akslen, La; Avril, Mf; Azizi, E; Bakker, B; Benediktsdottir, Kr; Bergman, W; Scarrà, Gb; Brown, Km; Calista, D; Chaudru, V; Fargnoli, MARIA CONCETTA; Cust, Ae; Demenais, F; de Waal, Ac; Dębniak, T; Elder, De; Friedman, E; Galan, P; Ghiorzo, P; Gillanders, Em; Goldstein, Am; Gruis, Na; Hansson, J; Helsing, P; Hočevar, M; Höiom, V; Hopper, Jl; Ingvar, C; Janssen, M; Jenkins, Ma; Kanetsky, Pa; Kiemeney, La; Lang, J; Lathrop, Gm; Leachman, S; Lee, Je; Lubiński, J; Mackie, Rm; Mann, Gj; Martin, Ng; Mayordomo, Ji; Molven, A; Mulder, S; Nagore, E; Novaković, S; Okamoto, I; Olafsson, Jh; Olsson, H; Pehamberger, H; Peris, Ketty; Grasa, Mp; Planelles, D; Puig, S; Puig Butille, Ja; Randerson Moor, J; Requena, C; Rivoltini, L; Rodolfo, M; Santinami, M; Sigurgeirsson, B; Snowden, H; Song, F; Sulem, P; Thorisdottir, K; Tuominen, R; Van Belle, P; van der Stoep, N; van Rossum, Mm; Wei, Q; Wendt, J; Zelenika, D; Zhang, M; Landi, Mt; Thorleifsson, G; Bishop, Dt; Amos, Ci; Hayward, Nk; Stefansson, K; Bishop, Ja; Barrett, Jh; Genomel, Consortium; Q., Mega; Amfs, Investigators |
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