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个人简介
In the last decade, my scientific activity has been directed to understanding the disease mechanisms underlying human genetic disorders affecting development and growth, and molecular processes contributing to haematological malignancies. In particular, my research has contributed to the identification of novel disease-genes implicated in RASopathies (i.e NRAS, RRAS, RRAS2, MAPK1), as well as to the understanding the molecular and cellular mechanisms underlying these disorders, with particular attention to LEOPARD and Noonan syndromes.
My work also contributed to the identification and functional characterization of disease genes involved in severe unrecognized rare disorders characterized by multiple malformations, early-onset neurodegeneration, defects of neurodevelopment, and premature aging (i.e., ATP6V1B2, KCNH1, TBCD, TBCE, HIST1H1E, VPS4A).
At the moment, my research activity is aimed at defining the metabolic profile of Costello and cardiofaciocutaneous syndromes, two developmental disorders clinically related to Noonan syndrome.
研究兴趣
论文共 91 篇作者统计合作学者相似作者
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Marialetizia Motta,Sabina Barresi,Simone Pizzi,Delfina Bifano, Jennifer Lopez Marti,Marta Garrido-Pontnou,Elisabetta Flex,Alessandro Bruselles,Isabella Giovannoni, Giovannina Rotundo,Alessandra Fragale,Valentina Tirelli,
The Journal of pathologyno. 2 (2024): 166-177
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 4 (2024): e63477-e63477
Nature Communicationsno. 1 (2023): 2034-2034
CLINICAL GENETICSno. 1 (2023): 136-138
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 562-562
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International journal of molecular sciencesno. 9 (2023): 7988-7988
NATURE COMMUNICATIONSno. 1 (2023)
International Journal of Molecular Sciencesno. 7988 (2023): 7988
Movement disorders : official journal of the Movement Disorder Societyno. 12 (2023): 2313-2314
Maria Grazia Giuffrida,Marina Goldoni,Maria Luce Genovesi,Giovanna Carpentieri,Barbara Torres, Anca Daniela Deac,Serena Cecchetti, Anna Martinelli,Alessandro Vaisfeld,Elisabetta Flex,Laura Bernardini
Diagnosticsno. 10 (2022): 2354-2354
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#Papers: 91
#Citation: 3434
H-Index: 30
G-Index: 58
Sociability: 7
Diversity: 3
Activity: 19
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