Laura Pignata

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Maria Vittoria Cubellis, Laura Pignata, Ankit Verma et al. · Clinical Epigenetics · 2020 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Angela Sparago, Ankit Verma, Maria Grazia Patricelli et al. · Clinical Epigenetics · 2019 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Federica Maria Valente, Angela Sparago, Andrea Freschi et al. · Genetics in Medicine · 2019 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Lusine Nazaryan‐Petersen, Jesper Eisfeldt, Maria Pettersson et al. · PLoS Genetics · 2018 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Laura Pignata, Francesco Cecere, Ankit Verma et al. · Clinical Epigenetics · 2022 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15