Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
2020 · Clinical Epigenetics · 72 citations
https://doi.org/10.1186/s13148-020-00925-2
L
Luciano Calzari
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Luciano Calzari is an academic researcher from IRCCS Istituto Auxologico Italiano. The author has contributed to research in topics: Epigenetics and DNA Methylation & Genetic Syndromes and Imprinting & Prenatal Screening and Diagnostics. The author has an h-index of 19, co-authored 77 publications.
ORCID: 0000-0003-4283-0988Papers by this author
worksA multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
2016 · Clinical Epigenetics · 68 citations
https://doi.org/10.1186/s13148-016-0183-8
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
2019 · Clinical Epigenetics · 56 citations
https://doi.org/10.1186/s13148-019-0760-8
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
2022 · Clinical Epigenetics · 51 citations
https://doi.org/10.1186/s13148-022-01259-x
Role of epigenetics in the clinical evolution of COVID-19 disease. Epigenome-wide association study identifies markers of severe outcome
2023 · European journal of medical research · 21 citations
https://doi.org/10.1186/s40001-023-01032-7
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
2020 · Molecular Neurobiology · 17 citations
https://doi.org/10.1007/s12035-020-01983-6
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