Concepedia

Giovanna Carpentieri

GC

Statistics

Publications

9

Citations

521

H-Index

9

Active since

2016

Affiliations

Bambino Gesù Children's Hospital(Current)

Istituto Superiore di Sanità

Istituti di Ricovero e Cura a Carattere Scientifico

University Medical Center Utrecht

Sapienza University of Rome

Giovanna Carpentieri is an author at Bambino Gesù Children's Hospital specializing in molecular genetics, genetics, and life sciences.

ORCID

Publications per year

2016–2023

9

Publications

9

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2020 · 95 citations · Full text

, , +16

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach et al. · The American Journal of Human Genetics · 2019 · 81 citations · Full text

, , +4

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Elisabetta Flex, Marcello Niceta, Serena Cecchetti et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

, , +17

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Catherine Rodger, Elisabetta Flex, Rachel Allison et al. · The American Journal of Human Genetics · 2020 · 70 citations · Full text

, , +17

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Elisabetta Flex, Simone Martinelli, Anke Van Dijck et al. · The American Journal of Human Genetics · 2019 · 57 citations · Full text

, , +12

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