Luciano Calzari
IRCCS Istituto Auxologico Italiano(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Epigenetics and DNA Methylation, Genetic Syndromes and Imprinting, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Genomics and Chromatin Dynamics
Most-Cited Works
- → (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome(2015)188 cited
- → A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation(2019)97 cited
- → Stochastic epigenetic mutations (DNA methylation) increase exponentially in human aging and correlate with X chromosome inactivation skewing in females(2015)96 cited
- → Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance(2020)85 cited
- → A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes(2016)69 cited
- → 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)59 cited