Concepedia

Elisa Lorefice

EL

Statistics

Publications

5

Citations

133

H-Index

5

Active since

2017

Affiliations

Sapienza University of Rome(Current)

Bambino Gesù Children's Hospital

University of Pavia

Istituti di Ricovero e Cura a Carattere Scientifico

Fondazione Santa Lucia

Elisa Lorefice is an author at Sapienza University of Rome specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2017–2022

5

Publications

5

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Roberta De Mori, Marta Romani, Stefano D’Arrigo et al. · The American Journal of Human Genetics · 2017 · 63 citations · Full text

, , +17

Bisulphite miRNA-seq reveals widespread CpG and non-CpG 5-(hydroxy)methyl-Cytosine in human microRNAs

Claudia Carissimi, Ilaria Laudadio, Elisa Lorefice et al. · RNA Biology · 2021 · 22 citations · Full text

, , +12

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi et al. · Brain · 2019 · 17 citations · Full text

, , +17

ZNF281 Promotes Colon Fibroblast Activation in TGFβ1-Induced Gut Fibrosis

Ilaria Laudadio, Alex Bastianelli, Valerio Fulci et al. · International Journal of Molecular Sciences · 2022 · 17 citations · Full text

, , +17

Clinical variability at the mild end of <i>BRAT1</i> ‐related spectrum: Evidence from two families with genotype–phenotype discordance

Sara Nuovo, Valentina Baglioni, Roberta De Mori et al. · Human Mutation · 2021 · 14 citations · Full text

, , +17

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