Onano, Stefano
Onano, Stefano
Istituto di Ricerca Genetica e Biomedica - IRGB
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications
2024 Sterenborg, Rosalie B. T. M.; Steinbrenner, Inga; Li, Yong; Bujnis, Melissa N.; Naito Eirini Marouli, Tatsuhiko; Galesloot, Tessel E.; Babajide, Oladapo; Andreasen, Laura; Astrup, Arne; Olav Åsvold, Bjørn; Bandinelli, Stefania; Beekman, Marian; Beilby, John P.; Bork-Jensen, Jette; Boutin, Thibaud; Brody, Jennifer A.; Brown, Suzanne J.; Brumpton, Ben; Campbell, Purdey J.; Cappola, Anne R.; Ceresini, Graziano; Chake, Layal; Chasman, Daniel I.; Pina Concas, Maria; Coutinho de Almeida, Rodrigo; Cross, Simone M.; Cucca, Francesco; Deary, Ian J.; Devedzic Kjaergaard, Alisa; Echouffo Tcheugui, Justin B.; Ellervik, Christina; Eriksson, Johan G.; Ferrucci, Luigi; Freudenberg, Jan; Discovehr, Ghs; Genetics Center, Regeneron; Fuchsberger, Christian; Gieger, Christian; Giulianini, Franco; Gögele, Martin; Graham, Sarah E.; Grarup, Niels; Gunjača, Ivana; Hansen, Torben; Harding, Barbara N.; Harris, Sarah E.; Haunsø, Stig; Hayward, Caroline; Hui, Jennie; Ittermann, Till; Wouter Jukema, J.; Kajantie, Eero; Kanters, Jørgen K.; Kårhus, Line L.; Kiemeney, Lambertus A. L. M.; Kloppenburg, Margreet; Kühnel, Brigitte; Lahti, Jari; Langenberg, Claudia; Lapauw, Bruno; Leese, Graham; Li, Shuo; Liewald, David C. M.; Linneberg, Allan; Lominchar, Jesus V. T.; Luan, Jian’An; Martin, Nicholas G.; Matana, Antonela; Meima, Marcel E.; Meitinger, Thomas; Meulenbelt, Ingrid; Mitchell, Braxton D.; Møllehave, Line T.; Mora, Samia; Naitza, Silvia; Nauck, Matthias; Netea-Maier, Romana T.; Noordam, Raymond; Nursyifa, Casia; Okada, Yukinori; Onano, Stefano; Papadopoulou, Areti; Palmer, Colin N. A.; Pattaro, Cristian; Pedersen, Oluf; Peters, Annette; Pietzner, Maik; Polašek, Ozren; Pramstaller, Peter P.; Psaty, Bruce M.; Punda, Ante; Ray, Debashree; Redmond, Paul; Brent Richards, J.; Ridker, Paul M.; Russ, Tom C.; Ryan, Kathleen A.; Salling Olesen, Morten; Schultheiss, Ulla T.; Selvin, Elizabeth; Siddiqui, Moneeza K.; Sidore, Carlo; Eline Slagboom, P.; Sørensen, Thorkild I. A.; Soto-Pedre80, Enrique; Spector, Tim D.; Spedicati, Beatrice; Srinivasan, Sundararajan; Starr, John M.; Stott, David J.; Tanaka, Toshiko; Torlak, Vesela; Trompet, Stella; Tuhkanen, Johanna; Uitterlinden, André G.; van den Akker Tibbert van den Eynde, Erik B.; van der Klauw, Melanie M.; van Heemst, Diana; Verroken, Charlotte; Edward Visser, W.; Vojinovic, Dina; Völzke, Henry; Waldenberger, Melanie; Wareham, John P. Walsh Nicholas J.; Weiss, Stefan; Willer, Cristen J.; Wilson, Scott G.; Wolffenbuttel, Bruce H. R.; Wouters, Hanneke J. C. M.; Wright, Margaret J.; Yang, Qiong; Zemunik, Tatijana; Zhou, Wei; Zhu, Gu; Zöllner, Sebastian; Smit, Johannes W. A.; Peeters, Robin P.; Köttgen, Anna; Teumer, Alexander; Medici, Marco
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
2020 Orrù, V; Steri, M; Sidore, C; Marongiu, M; Serra, V; Olla, S; Sole, G; Lai, S; Dei, M; Mulas, A; Virdis, F; Piras, Mg; Lobina, M; Marongiu, M; Pitzalis, M; Deidda, F; Loizedda, A; Onano, S; Zoledziewska, M; Sawcer, S; Devoto, M; Gorospe, M; Abecasis, Gr; Floris, M; Pala, M; Schlessinger, D; Fiorillo, E; Cucca, F
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
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
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, Evalena; Palomaresbralo, Maria; Santossimarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS plus phenotypic spectrum: a case report
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
2018 Angius, A; Cossu, S; Uva, P; Oppo, M; Onano, S; Persico, I; Fotia, G; Atzeni, R; Cuccuru, G; Asunis, M; Cucca, F; Pruna, D; Crisponi, L
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
2016 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications | 1-gen-2024 | Sterenborg, Rosalie B. T. M.; Steinbrenner, Inga; Li, Yong; Bujnis, Melissa N.; Naito Eirini Marouli, Tatsuhiko; Galesloot, Tessel E.; Babajide, Oladapo; Andreasen, Laura; Astrup, Arne; Olav Åsvold, Bjørn; Bandinelli, Stefania; Beekman, Marian; Beilby, John P.; Bork-Jensen, Jette; Boutin, Thibaud; Brody, Jennifer A.; Brown, Suzanne J.; Brumpton, Ben; Campbell, Purdey J.; Cappola, Anne R.; Ceresini, Graziano; Chake, Layal; Chasman, Daniel I.; Pina Concas, Maria; Coutinho de Almeida, Rodrigo; Cross, Simone M.; Cucca, Francesco; Deary, Ian J.; Devedzic Kjaergaard, Alisa; Echouffo Tcheugui, Justin B.; Ellervik, Christina; Eriksson, Johan G.; Ferrucci, Luigi; Freudenberg, Jan; Discovehr, Ghs; Genetics Center, Regeneron; Fuchsberger, Christian; Gieger, Christian; Giulianini, Franco; Gögele, Martin; Graham, Sarah E.; Grarup, Niels; Gunjača, Ivana; Hansen, Torben; Harding, Barbara N.; Harris, Sarah E.; Haunsø, Stig; Hayward, Caroline; Hui, Jennie; Ittermann, Till; Wouter Jukema, J.; Kajantie, Eero; Kanters, Jørgen K.; Kårhus, Line L.; Kiemeney, Lambertus A. L. M.; Kloppenburg, Margreet; Kühnel, Brigitte; Lahti, Jari; Langenberg, Claudia; Lapauw, Bruno; Leese, Graham; Li, Shuo; Liewald, David C. M.; Linneberg, Allan; Lominchar, Jesus V. T.; Luan, Jian’An; Martin, Nicholas G.; Matana, Antonela; Meima, Marcel E.; Meitinger, Thomas; Meulenbelt, Ingrid; Mitchell, Braxton D.; Møllehave, Line T.; Mora, Samia; Naitza, Silvia; Nauck, Matthias; Netea-Maier, Romana T.; Noordam, Raymond; Nursyifa, Casia; Okada, Yukinori; Onano, Stefano; Papadopoulou, Areti; Palmer, Colin N. A.; Pattaro, Cristian; Pedersen, Oluf; Peters, Annette; Pietzner, Maik; Polašek, Ozren; Pramstaller, Peter P.; Psaty, Bruce M.; Punda, Ante; Ray, Debashree; Redmond, Paul; Brent Richards, J.; Ridker, Paul M.; Russ, Tom C.; Ryan, Kathleen A.; Salling Olesen, Morten; Schultheiss, Ulla T.; Selvin, Elizabeth; Siddiqui, Moneeza K.; Sidore, Carlo; Eline Slagboom, P.; Sørensen, Thorkild I. A.; Soto-Pedre80, Enrique; Spector, Tim D.; Spedicati, Beatrice; Srinivasan, Sundararajan; Starr, John M.; Stott, David J.; Tanaka, Toshiko; Torlak, Vesela; Trompet, Stella; Tuhkanen, Johanna; Uitterlinden, André G.; van den Akker Tibbert van den Eynde, Erik B.; van der Klauw, Melanie M.; van Heemst, Diana; Verroken, Charlotte; Edward Visser, W.; Vojinovic, Dina; Völzke, Henry; Waldenberger, Melanie; Wareham, John P. Walsh Nicholas J.; Weiss, Stefan; Willer, Cristen J.; Wilson, Scott G.; Wolffenbuttel, Bruce H. R.; Wouters, Hanneke J. C. M.; Wright, Margaret J.; Yang, Qiong; Zemunik, Tatijana; Zhou, Wei; Zhu, Gu; Zöllner, Sebastian; Smit, Johannes W. A.; Peeters, Robin P.; Köttgen, Anna; Teumer, Alexander; Medici, Marco | |
| Complex genetic signatures in immune cells underlie autoimmunity and inform therapy | 1-gen-2020 | Orrù, V; Steri, M; Sidore, C; Marongiu, M; Serra, V; Olla, S; Sole, G; Lai, S; Dei, M; Mulas, A; Virdis, F; Piras, Mg; Lobina, M; Marongiu, M; Pitzalis, M; Deidda, F; Loizedda, A; Onano, S; Zoledziewska, M; Sawcer, S; Devoto, M; Gorospe, M; Abecasis, Gr; Floris, M; Pala, M; Schlessinger, D; Fiorillo, E; Cucca, F | |
| 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, Evalena; Palomaresbralo, Maria; Santossimarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura | |
| Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS plus 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, S; Persico, I; Fotia, G; Atzeni, R; Cuccuru, G; Asunis, M; Cucca, F; Pruna, D; Crisponi, L | |
| Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | 1-gen-2016 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank |