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Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Published in International journal of molecular sciences (14.12.2021)
Published in International journal of molecular sciences (14.12.2021)
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GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
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Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
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Published in Genes (14.04.2022)
Published in Genes (14.04.2022)
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Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors
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Published in Frontiers in genetics (17.08.2023)
Published in Frontiers in genetics (17.08.2023)
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Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Privitera, Flavia, Trusso, Maria A, Valentino, Floriana, Doddato, Gabriella, Fallerini, Chiara, Brunelli, Giulia, D'Aurizio, Romina, Furini, Simone, Goracci, Arianna, Fagiolini, Andrea, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Published in Revista brasileira de psiquiatria (01.01.2023)
Published in Revista brasileira de psiquiatria (01.01.2023)
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Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Bruttini, Mirella, Hadjistilianou, Theodora, Landi, Martino, Coradeschi, Caterina, Grosso, Salvatore, Tomasini, Barbara, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Published in Frontiers in genetics (03.12.2021)
Published in Frontiers in genetics (03.12.2021)
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Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Bruttini, Mirella, Hadjistilianou, Theodora, Landi, Martino, Coradeschi, Caterina, Grosso, Salvatore, Tomasini, Barbara, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Published in Frontiers in genetics (2023)
Published in Frontiers in genetics (2023)
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Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review
Ronzoni, Luisa, Mureddu, Matteo, Malvestiti, Francesco, Moretti, Vittoria, Bianco, Cristiana, Periti, Giulia, Baldassarri, Margherita, Ariani, Francesca, Carrer, Anna, Pelusi, Serena, Renieri, Alessandra, Prati, Daniele, Valenti, Luca
Published in Genes (16.08.2023)
Published in Genes (16.08.2023)
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SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ariani, Francesca, Khan, Shahid Niaz
Published in Frontiers in molecular neuroscience (17.06.2022)
Published in Frontiers in molecular neuroscience (17.06.2022)
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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing
Grillo, Elisa, Lo Rizzo, Caterina, Bianciardi, Laura, Bizzarri, Veronica, Baldassarri, Margherita, Spiga, Ottavia, Furini, Simone, De Felice, Claudio, Signorini, Cinzia, Leoncini, Silvia, Pecorelli, Alessandra, Ciccoli, Lucia, Mencarelli, Maria Antonietta, Hayek, Joussef, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Renieri, Alessandra
Published in PloS one (28.02.2013)
Published in PloS one (28.02.2013)
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DNA Methylation in the Diagnosis of Monogenic Diseases
Cerrato, Flavia, Sparago, Angela, Ariani, Francesca, Brugnoletti, Fulvia, Calzari, Luciano, Coppedè, Fabio, De Luca, Alessandro, Gervasini, Cristina, Giardina, Emiliano, Gurrieri, Fiorella, Lo Nigro, Cristiana, Merla, Giuseppe, Miozzo, Monica, Russo, Silvia, Sangiorgi, Eugenio, Sirchia, Silvia M, Squeo, Gabriella Maria, Tabano, Silvia, Tabolacci, Elisabetta, Torrente, Isabella, Genuardi, Maurizio, Neri, Giovanni, Riccio, Andrea
Published in Genes (26.03.2020)
Published in Genes (26.03.2020)
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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca
Published in Journal of human genetics (01.02.2016)
Published in Journal of human genetics (01.02.2016)
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13q Deletion Syndrome Involving RB1 : Characterization of a New Minimal Critical Region for Psychomotor Delay
Privitera, Flavia, Calonaci, Arianna, Doddato, Gabriella, Papa, Filomena Tiziana, Baldassarri, Margherita, Pinto, Anna Maria, Mari, Francesca, Longo, Ilaria, Caini, Mauro, Galimberti, Daniela, Hadjistilianou, Theodora, De Francesco, Sonia, Renieri, Alessandra, Ariani, Francesca
Published in Genes (26.08.2021)
Published in Genes (26.08.2021)
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Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
Gelli, Elisa, Colombo, Mara, Pinto, Anna Maria, De Vecchi, Giovanna, Foglia, Claudia, Amitrano, Sara, Morbidoni, Valeria, Imperatore, Valentina, Manoukian, Siranoush, Baldassarri, Margherita, Lo Rizzo, Caterina, Catania, Lorenza, Frullanti, Elisa, Tagliafico, Enrico, Cortesi, Laura, Spaggiari, Federica, Mencarelli, Maria Antonietta, Trevisson, Eva, Radice, Paolo, Renieri, Alessandra, Ariani, Francesca
Published in Cancers (01.03.2019)
Published in Cancers (01.03.2019)
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RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report
Gelli, Elisa, Fallerini, Chiara, Valentino, Floriana, Giliberti, Annarita, Castiglione, Francesca, Laschi, Lucrezia, Palmieri, Maria, Fabbiani, Alessandra, Tita, Rossella, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Published in Frontiers in oncology (21.08.2020)
Published in Frontiers in oncology (21.08.2020)
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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
Valentino, Floriana, Bruno, Lucia Pia, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Resciniti, Sara, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Baldassarri, Margherita, Fabbiani, Alessandra, Lamacchia, Vittoria, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca
Published in Brain sciences (16.07.2021)
Published in Brain sciences (16.07.2021)
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Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine
Baldassarri, Margherita, Fallerini, Chiara, Cetta, Francesco, Ghisalberti, Marco, Bellan, Cristiana, Furini, Simone, Spiga, Ottavia, Crispino, Sergio, Gotti, Giuseppe, Ariani, Francesca, Paladini, Piero, Renieri, Alessandra, Frullanti, Elisa
Published in Cancer research and treatment (01.04.2018)
Published in Cancer research and treatment (01.04.2018)
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Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress
Imperatore, Valentina, Mencarelli, Maria Antonietta, Fallerini, Chiara, Bianciardi, Laura, Ariani, Francesca, Furini, Simone, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
Published in International journal of molecular sciences (27.02.2016)
Published in International journal of molecular sciences (27.02.2016)
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Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome
Paccagnini, Eugenio, Gentile, Mariangela, Belmonte, Giuseppe, Giuseppe, Valacchi, Durand, Thierry, Galano, Jean-Marie, Ciccoli, Lucia, Renieri, Alessandra, Hayek, Joussef, Amabile, Sonia, Mari, Francesca, Ariani, Francesca, Meloni, Ilaria, Pecorelli, Alessandra, De Felice, Claudio, Leoncini, Silvia, Signorini, Cinzia, Zollo, Gloria
Published in Oxidative medicine and cellular longevity (01.01.2014)
Published in Oxidative medicine and cellular longevity (01.01.2014)
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