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Author

Maria Giovanna Tedesco

Observed name: Maria G Tedesco
ORCID: 0009-0006-4790-6573
Observed ORCID: 0009-0006-4790-6573
OpenAlex ID: A5021464457
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
2021 · Kathleen Rooney, Michael A. Levy, et al. · International Journal of Molecular Sciences · 29
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Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
2021 · Schaida Schirwani, Shadi Albaba, et al. · American Journal of Medical Genetics Part A · 25
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
2021 · Maria Giovanna Tedesco, Fortunato Lonardo, et al. · American Journal of Medical Genetics Part A · 8
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3
2021 · Elisabetta Flex, Valentina Imperatore, et al. · Genes · 4
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CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum
2024 · Ilaria Vivaldi, Marco Imperi, et al. · European Journal of Human Genetics · 1
Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia
2025 · Hieu D Hoang, Rebecca C Spillmann, et al. · Human Molecular Genetics
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Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature
2025 · Maria Giovanna Tedesco, Ilaria Donati, et al. · Genes
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A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly
2024 · Miryam Rosa Stella Foti, Maria Giovanna Tedesco, et al. · International Journal of Molecular Sciences
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Works count: 8
Citation count: 67
H-index: 4
I10-index: 2
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