ELLIS, Steven Robert
ELLIS, Steven Robert
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia
2018-01-01 Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W.; Vlachos, Adrianna; Lipton, Jeffrey M.; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R.; Dianzani, Irma
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry
2018-01-01 Vlachos, Adrianna; Osorio, Diana S; Atsidaftos, Evangelia; Kang, Jessica; Lababidi, Mohammad Lutfi; Seiden, Howard S; Gruber, Dorota; Glader, Bertil E; Onel, Kenan; Farrar, Jason E; Bodine, David M; Aspesi, Anna; Dianzani, Irma; Ramenghi, Ugo; Ellis, Steven Robert; Lipton, Jeffrey M
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy
2017-01-01 Aspesi, Anna; Monteleone, Valentina; Betti, Marta; Actis, Chiara; Morleo, Giulia; Sculco, Marika; Guarrera, Simonetta; Wlodarski, Marcin W.; Ramenghi, Ugo; Santoro, Claudio; Ellis, Steven R.; Loreni, Fabrizio; Follenzi, Antonia; Dianzani, Irma
Rare ribosomopathies: insights into mechanisms of cancer
2019-01-01 Aspesi, Anna; Ellis, Steven R.
Ribosomopathies through a diamond lens
2018-01-01 Aspesi, Anna; Ellis, Steven R.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia | 1-gen-2018 | Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W.; Vlachos, Adrianna; Lipton, Jeffrey M.; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R.; Dianzani, Irma | |
| Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry | 1-gen-2018 | Vlachos, Adrianna; Osorio, Diana S; Atsidaftos, Evangelia; Kang, Jessica; Lababidi, Mohammad Lutfi; Seiden, Howard S; Gruber, Dorota; Glader, Bertil E; Onel, Kenan; Farrar, Jason E; Bodine, David M; Aspesi, Anna; Dianzani, Irma; Ramenghi, Ugo; Ellis, Steven Robert; Lipton, Jeffrey M | |
| Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy | 1-gen-2017 | Aspesi, Anna; Monteleone, Valentina; Betti, Marta; Actis, Chiara; Morleo, Giulia; Sculco, Marika; Guarrera, Simonetta; Wlodarski, Marcin W.; Ramenghi, Ugo; Santoro, Claudio; Ellis, Steven R.; Loreni, Fabrizio; Follenzi, Antonia; Dianzani, Irma | |
| Rare ribosomopathies: insights into mechanisms of cancer | 1-gen-2019 | Aspesi, Anna; Ellis, Steven R. | |
| Ribosomopathies through a diamond lens | 1-gen-2018 | Aspesi, Anna; Ellis, Steven R. |