Onano, Stefano
Onano, Stefano
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
2020-01-01 Orrù, Valeria; Steri, Maristella; Sidore, Carlo; Marongiu, Michele; Serra, Valentina; Olla, Stefania; Sole, Gabriella; Lai, Sandra; Dei, Mariano; Mulas, Antonella; Virdis, Francesca; Piras, Maria Grazia; Lobina, Monia; Marongiu, Mara; Pitzalis, Maristella; Deidda, Francesca; Loizedda, Annalisa; Onano, Stefano; Zoledziewska, Magdalena; Sawcer, Stephen; Devoto, Marcella; Gorospe, Myriam; Abecasis, Gonçalo R.; Floris, Matteo; Pala, Mauro; Schlessinger, David; Fiorillo, Edoardo; Cucca, Francesco
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
2019-01-01 Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura
Exome sequencing in Crisponi/cold-induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses
2019-01-01 Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Anneren, Goeran; Stattin, Eva-Lena; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications
2024-01-01 Sterenborg, R. B. T. M.; Steinbrenner, I.; Li, Y.; Bujnis, M. N.; Naito, T.; Marouli, E.; Galesloot, T. E.; Babajide, O.; Andreasen, L.; Astrup, A.; Asvold, B. O.; Bandinelli, S.; Beekman, M.; Beilby, J. P.; Bork-Jensen, J.; Boutin, T.; Brody, J. A.; Brown, S. J.; Brumpton, B.; Campbell, P. J.; Cappola, A. R.; Ceresini, G.; Chaker, L.; Chasman, D. I.; Concas, M. P.; Coutinho de Almeida, R.; Cross, S. M.; Cucca, F.; Deary, I. J.; Kjaergaard, A. D.; Echouffo Tcheugui, J. B.; Ellervik, C.; Eriksson, J. G.; Ferrucci, L.; Freudenberg, J.; Fuchsberger, C.; Gieger, C.; Giulianini, F.; Gogele, M.; Graham, S. E.; Grarup, N.; Gunjaca, I.; Hansen, T.; Harding, B. N.; Harris, S. E.; Haunso, S.; Hayward, C.; Hui, J.; Ittermann, T.; Jukema, J. W.; Kajantie, E.; Kanters, J. K.; Karhus, L. L.; Kiemeney, L. A. L. M.; Kloppenburg, M.; Kuhnel, B.; Lahti, J.; Langenberg, C.; Lapauw, B.; Leese, G.; Li, S.; Liewald, D. C. M.; Linneberg, A.; Lominchar, J. V. T.; Luan, J.; Martin, N. G.; Matana, A.; Meima, M. E.; Meitinger, T.; Meulenbelt, I.; Mitchell, B. D.; Mollehave, L. T.; Mora, S.; Naitza, S.; Nauck, M.; Netea-Maier, R. T.; Noordam, R.; Nursyifa, C.; Okada, Y.; Onano, S.; Papadopoulou, A.; Palmer, C. N. A.; Pattaro, C.; Pedersen, O.; Peters, A.; Pietzner, M.; Polasek, O.; Pramstaller, P. P.; Psaty, B. M.; Punda, A.; Ray, D.; Redmond, P.; Richards, J. B.; Ridker, P. M.; Russ, T. C.; Ryan, K. A.; Olesen, M. S.; Schultheiss, U. T.; Selvin, E.; Siddiqui, M. K.; Sidore, C.; Slagboom, P. E.; Sorensen, T. I. A.; Soto-Pedre, E.; Spector, T. D.; Spedicati, B.; Srinivasan, S.; Starr, J. M.; Stott, D. J.; Tanaka, T.; Torlak, V.; Trompet, S.; Tuhkanen, J.; Uitterlinden, A. G.; van den Akker, E. B.; van den Eynde, T.; van der Klauw, M. M.; van Heemst, D.; Verroken, C.; Visser, W. E.; Vojinovic, D.; Volzke, H.; Waldenberger, M.; Walsh, J. P.; Wareham, N. J.; Weiss, S.; Willer, C. J.; Wilson, S. G.; Wolffenbuttel, B. H. R.; Wouters, H. J. C. M.; Wright, M. J.; Yang, Q.; Zemunik, T.; Zhou, W.; Zhu, G.; Zollner, S.; Smit, J. W. A.; Peeters, R. P.; Kottgen, A.; Teumer, A.; Medici, M.
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: A case report
2019-01-01 Alves, Rita Maria; Uva, Paolo; Veiga, Marielza F.; Oppo, Manuela; Zschaber, Fabiana C. R.; Porcu, Giampiero; Porto, Henrique P.; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira, Lauro C. N.; Pires, Marcos V. A.; Cucca, Francesco; Toralles, Maria Betania P.; Angius, Andrea; Crisponi, Laura
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
2018-01-01 Angius, A.; Cossu, S.; Uva, P.; Oppo, M.; Onano, Stefano; Persico, I.; Fotia, G.; Atzeni, R.; Cuccuru, G.; Asunis, M.; Cucca, F.; Pruna, D.; Crisponi, L.
The EQTLs Catalog and LinDA browser: a platform for determining the effects on transcription of GWAS variants
2019-01-01 Onano, Stefano
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Complex genetic signatures in immune cells underlie autoimmunity and inform therapy | 1-gen-2020 | Orrù, Valeria; Steri, Maristella; Sidore, Carlo; Marongiu, Michele; Serra, Valentina; Olla, Stefania; Sole, Gabriella; Lai, Sandra; Dei, Mariano; Mulas, Antonella; Virdis, Francesca; Piras, Maria Grazia; Lobina, Monia; Marongiu, Mara; Pitzalis, Maristella; Deidda, Francesca; Loizedda, Annalisa; Onano, Stefano; Zoledziewska, Magdalena; Sawcer, Stephen; Devoto, Marcella; Gorospe, Myriam; Abecasis, Gonçalo R.; Floris, Matteo; Pala, Mauro; Schlessinger, David; Fiorillo, Edoardo; Cucca, Francesco | |
| Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP | 1-gen-2019 | Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura | |
| Exome sequencing in Crisponi/cold-induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses | 1-gen-2019 | Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Anneren, Goeran; Stattin, Eva-Lena; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura | |
| Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications | 1-gen-2024 | Sterenborg, R. B. T. M.; Steinbrenner, I.; Li, Y.; Bujnis, M. N.; Naito, T.; Marouli, E.; Galesloot, T. E.; Babajide, O.; Andreasen, L.; Astrup, A.; Asvold, B. O.; Bandinelli, S.; Beekman, M.; Beilby, J. P.; Bork-Jensen, J.; Boutin, T.; Brody, J. A.; Brown, S. J.; Brumpton, B.; Campbell, P. J.; Cappola, A. R.; Ceresini, G.; Chaker, L.; Chasman, D. I.; Concas, M. P.; Coutinho de Almeida, R.; Cross, S. M.; Cucca, F.; Deary, I. J.; Kjaergaard, A. D.; Echouffo Tcheugui, J. B.; Ellervik, C.; Eriksson, J. G.; Ferrucci, L.; Freudenberg, J.; Fuchsberger, C.; Gieger, C.; Giulianini, F.; Gogele, M.; Graham, S. E.; Grarup, N.; Gunjaca, I.; Hansen, T.; Harding, B. N.; Harris, S. E.; Haunso, S.; Hayward, C.; Hui, J.; Ittermann, T.; Jukema, J. W.; Kajantie, E.; Kanters, J. K.; Karhus, L. L.; Kiemeney, L. A. L. M.; Kloppenburg, M.; Kuhnel, B.; Lahti, J.; Langenberg, C.; Lapauw, B.; Leese, G.; Li, S.; Liewald, D. C. M.; Linneberg, A.; Lominchar, J. V. T.; Luan, J.; Martin, N. G.; Matana, A.; Meima, M. E.; Meitinger, T.; Meulenbelt, I.; Mitchell, B. D.; Mollehave, L. T.; Mora, S.; Naitza, S.; Nauck, M.; Netea-Maier, R. T.; Noordam, R.; Nursyifa, C.; Okada, Y.; Onano, S.; Papadopoulou, A.; Palmer, C. N. A.; Pattaro, C.; Pedersen, O.; Peters, A.; Pietzner, M.; Polasek, O.; Pramstaller, P. P.; Psaty, B. M.; Punda, A.; Ray, D.; Redmond, P.; Richards, J. B.; Ridker, P. M.; Russ, T. C.; Ryan, K. A.; Olesen, M. S.; Schultheiss, U. T.; Selvin, E.; Siddiqui, M. K.; Sidore, C.; Slagboom, P. E.; Sorensen, T. I. A.; Soto-Pedre, E.; Spector, T. D.; Spedicati, B.; Srinivasan, S.; Starr, J. M.; Stott, D. J.; Tanaka, T.; Torlak, V.; Trompet, S.; Tuhkanen, J.; Uitterlinden, A. G.; van den Akker, E. B.; van den Eynde, T.; van der Klauw, M. M.; van Heemst, D.; Verroken, C.; Visser, W. E.; Vojinovic, D.; Volzke, H.; Waldenberger, M.; Walsh, J. P.; Wareham, N. J.; Weiss, S.; Willer, C. J.; Wilson, S. G.; Wolffenbuttel, B. H. R.; Wouters, H. J. C. M.; Wright, M. J.; Yang, Q.; Zemunik, T.; Zhou, W.; Zhu, G.; Zollner, S.; Smit, J. W. A.; Peeters, R. P.; Kottgen, A.; Teumer, A.; Medici, M. | |
| Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: A case report | 1-gen-2019 | Alves, Rita Maria; Uva, Paolo; Veiga, Marielza F.; Oppo, Manuela; Zschaber, Fabiana C. R.; Porcu, Giampiero; Porto, Henrique P.; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira, Lauro C. N.; Pires, Marcos V. A.; Cucca, Francesco; Toralles, Maria Betania P.; Angius, Andrea; Crisponi, Laura | |
| Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome | 1-gen-2018 | Angius, A.; Cossu, S.; Uva, P.; Oppo, M.; Onano, Stefano; Persico, I.; Fotia, G.; Atzeni, R.; Cuccuru, G.; Asunis, M.; Cucca, F.; Pruna, D.; Crisponi, L. | |
| The EQTLs Catalog and LinDA browser: a platform for determining the effects on transcription of GWAS variants | 1-gen-2019 | Onano, Stefano |