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
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 |
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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 | |
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 |