Concepedia

Paolo Prontera

PP

64

Publications

2.7K

Citations

30

H-Index

2006

Active since

Affiliations

University of Perugia(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Casa Sollievo della Sofferenza

Azienda Ospedaliera di Perugia

University of Turin

Paolo Prontera is an author at University of Perugia specializing in genetics, medicine, and pathology.

ORCID

Top concepts

Publications per year

2006–2023

64

Publications

64

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 218 citations · Full text

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

Antonio Adamo, Sina Atashpaz, Pierre‐Luc Germain et al. · Nature Genetics · 2014 · 128 citations

, , +10

A molecular and clinical study of Larsen syndrome caused by mutations in <i>FLNB</i>

Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati et al. · Journal of Medical Genetics · 2006 · 125 citations · Full text

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

, , +20

Rows per page

1–5 of 64