Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 · Nature Communications · 52 citations
https://doi.org/10.1038/s41467-023-39539-6
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Maria Margherita Mancardi
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Maria Margherita Mancardi is an academic researcher from Istituto Giannina Gaslini. The author has contributed to research in topics: Epilepsy research and treatment & Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases. The author has an h-index of 30, co-authored 161 publications.
ORCID: 0000-0001-5122-4029Papers by this author
worksSevere Epilepsy in X‐Linked Creatine Transporter Defect (CRTR‐D)
2007 · Epilepsia · 49 citations
https://doi.org/10.1111/j.1528-1167.2007.01148.x
Sleep disturbances in craniopharyngioma: a challenging diagnosis
2021 · Journal of Neurology · 15 citations
https://doi.org/10.1007/s00415-021-10794-1
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
2023 · Human Genetics · 14 citations
https://doi.org/10.1007/s00439-023-02552-2
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome
2025 · Orphanet Journal of Rare Diseases · 11 citations
https://doi.org/10.1186/s13023-024-03527-w
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
2023 · Orphanet Journal of Rare Diseases · 10 citations
https://doi.org/10.1186/s13023-023-02628-2
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