ROSTI, GIULIA
ROSTI, GIULIA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
2022-01-01 Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola
Genotypic characterization of undiagnosed patients with Skeletal Dysplasia as an essential factor to determine the management and follow-up: an NGS approach
2025-05-23 Rosti, Giulia
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
2019-01-01 Rosti, Giulia; Tassano, Elisa; Bossi, Simone; Divizia, Maria Teresa; Ronchetto, Patrizia; Servetti, Martina; Lerone, Margherita; Pisciotta, Livia; Mancardi, Maria Margherita; Veneselli, Edvige; Puliti, Aldamaria.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
2021-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Divizia, Maria Teresa; Ronchetto, Patrizia; Puliti, Aldamaria
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing
2023-01-01 Rosti, Giulia; Boeri, Silvia; Divizia, Maria Teresa; Pisciotta, Livia; Mancardi, Maria Margherita; Lerone, Margherita; Cerminara, Maria; Servetti, Martina; Spirito, Giovanni; Vozzi, Diego; Fontana, Marco; Gustincich, Stefano; Nobili, Lino; Zara, Federico; Puliti, Aldamaria
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs
2022-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs.
2021-01-01 Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A.
Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions
2025-01-01 Cerminara, Maria; Spirito, Giovanni; Pandolfini, Luca; Boeri, Silvia; Rosti, Giulia; Mancardi, Margherita; Pisciotta, Livia; Fontana, Marco; Bianchi, Alessandra; Chen, Iris; Ferrera, Loretta; Caroli, Francesco; Di Duca, Marco; Cavalli, Andrea; Divizia, Maria Teresa; De Grandis, Elisa; Casabona, Silvia; Trova, Sara; Vozzi, Diego; Amoroso, Antonio; Obino, Laure; Sanges, Remo; Vecchi, Manuela; Nobili, Lino; Zara, Federico; Gustincich, Stefano; Puliti, Aldamaria
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era | 1-gen-2022 | Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola | |
| Genotypic characterization of undiagnosed patients with Skeletal Dysplasia as an essential factor to determine the management and follow-up: an NGS approach | 23-mag-2025 | Rosti, Giulia | |
| Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability | 1-gen-2019 | Rosti, Giulia; Tassano, Elisa; Bossi, Simone; Divizia, Maria Teresa; Ronchetto, Patrizia; Servetti, Martina; Lerone, Margherita; Pisciotta, Livia; Mancardi, Maria Margherita; Veneselli, Edvige; Puliti, Aldamaria. | |
| Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs | 1-gen-2021 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Divizia, Maria Teresa; Ronchetto, Patrizia; Puliti, Aldamaria | |
| Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing | 1-gen-2023 | Rosti, Giulia; Boeri, Silvia; Divizia, Maria Teresa; Pisciotta, Livia; Mancardi, Maria Margherita; Lerone, Margherita; Cerminara, Maria; Servetti, Martina; Spirito, Giovanni; Vozzi, Diego; Fontana, Marco; Gustincich, Stefano; Nobili, Lino; Zara, Federico; Puliti, Aldamaria | |
| Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs | 1-gen-2022 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria | |
| Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. | 1-gen-2021 | Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A. | |
| Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions | 1-gen-2025 | Cerminara, Maria; Spirito, Giovanni; Pandolfini, Luca; Boeri, Silvia; Rosti, Giulia; Mancardi, Margherita; Pisciotta, Livia; Fontana, Marco; Bianchi, Alessandra; Chen, Iris; Ferrera, Loretta; Caroli, Francesco; Di Duca, Marco; Cavalli, Andrea; Divizia, Maria Teresa; De Grandis, Elisa; Casabona, Silvia; Trova, Sara; Vozzi, Diego; Amoroso, Antonio; Obino, Laure; Sanges, Remo; Vecchi, Manuela; Nobili, Lino; Zara, Federico; Gustincich, Stefano; Puliti, Aldamaria |