IOVINO, EMANUELA
IOVINO, EMANUELA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Long read sequencing on its way to the routine diagnostics of genetic diseases
2024 Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Magini, Pamela
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only
2023 Iovino E.; Scapoli L.; Palmieri A.; Sgarzani R.; Nouri N.; Pellati A.; Carinci F.; Seri M.; Pippucci T.; Martinelli M.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
2022 Gozzelino L.; Kochlamazashvili G.; Baldassari S.; Mackintosh A.I.; Licchetta L.; Iovino E.; Liu Y.-C.; Bennett C.A.; Bennett M.F.; Damiano J.A.; Zsurka G.; Marconi C.; Giangregorio T.; Magini P.; Kuijpers M.; Maritzen T.; Norata G.D.; Baulac S.; Canafoglia L.; Seri M.; Tinuper P.; Scheffer I.E.; Bahlo M.; Berkovic S.F.; Hildebrand M.S.; Kunz W.S.; Giordano L.; Bisulli F.; Martini M.; Haucke V.; Hirsch E.; Pippucci T.
Exploration of Tools for the Interpretation of Human Non-Coding Variants
2022 Tabarini, Nicole; Biagi, Elena; Uva, Paolo; Iovino, Emanuela; Pippucci, Tommaso; Seri, Marco; Cavalli, Andrea; Ceccherini, Isabella; Rusmini, Marta; Viti, Federica
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level
2021 Iovino, Emanuela; Seri, Marco; Pippucci, Tommaso
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Long read sequencing on its way to the routine diagnostics of genetic diseases | Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Mag...ini, Pamela | 2024-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | fgene-15-1374860.pdf |
| Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only | Iovino E.; Scapoli L.; Palmieri A.; Sgarzani R.; Nouri N.; Pellati A.; Carinci F.; Seri M.; Pippu...cci T.; Martinelli M. | 2023-01-01 | BIOMOLECULES | - | 1.01 Articolo in rivista | Iovino, Scapoli 2023 Ultra rare mutations in nsCPO.pdf; biomolecules-13-00236-s001.zip |
| Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy | Gozzelino L.; Kochlamazashvili G.; Baldassari S.; Mackintosh A.I.; Licchetta L.; Iovino E.; Liu Y....-C.; Bennett C.A.; Bennett M.F.; Damiano J.A.; Zsurka G.; Marconi C.; Giangregorio T.; Magini P.; Kuijpers M.; Maritzen T.; Norata G.D.; Baulac S.; Canafoglia L.; Seri M.; Tinuper P.; Scheffer I.E.; Bahlo M.; Berkovic S.F.; Hildebrand M.S.; Kunz W.S.; Giordano L.; Bisulli F.; Martini M.; Haucke V.; Hirsch E.; Pippucci T. | 2022-01-01 | BRAIN | - | 1.01 Articolo in rivista | awac082.pdf; awac082_supplementary_data.zip |
| Exploration of Tools for the Interpretation of Human Non-Coding Variants | Tabarini, Nicole; Biagi, Elena; Uva, Paolo; Iovino, Emanuela; Pippucci, Tommaso; Seri, Marco; Cav...alli, Andrea; Ceccherini, Isabella; Rusmini, Marta; Viti, Federica | 2022-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | ijms-23-12977-v2.pdf |
| unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level | Iovino, Emanuela; Seri, Marco; Pippucci, Tommaso | 2021-01-01 | BIOINFORMATICS | - | 1.01 Articolo in rivista | - |