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Federico Ferraro | Researchclopedia

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Federico Ferraro

Erasmus MC ORCID

23

Works

160

Citations

6

h-index

4

i10-index

Research Topics

Genomics and Rare Diseases Parkinson's Disease Mechanisms and Treatments RNA Research and Splicing

Affiliations

University of Insubria2020–2020

Erasmus MC2021–2026

Erasmus MC Cancer Institute2025–2025

Erasmus University Rotterdam2025–2025

Top Works

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease

Christina Fevga,Yangshin Park,et al.

202140 citations

Cellular transport and secretion

Neurological disorders and treatments

MCF7 Spheroid Development: New Insight about Spatio/Temporal Arrangements of TNTs, Amyloid Fibrils, Cell Connections, and Cellular Bridges

Laura Pulze,Terenzio Congiu,et al.

202035 citations

<i>PTPA</i> variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Christina Fevga,Christelle Tesson,et al.

202228 citations

Re‐analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an <i>RNU4‐2</i> related neurodevelopmental disorder

Rachel Schot,Federico Ferraro,et al.

202424 citations

<scp><i>AOPEP</i></scp> Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia

Christina Fevga,Federico Ferraro,et al.

20227 citations

A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson’s disease with dementia

Alessandra Fanciulli,Fabian Leys,et al.

20226 citations

Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory

Federico Ferraro,Mark Drost,et al.

20255 citations

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

Daphne J. Smits,Christophe Debuy,et al.

20254 citations

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

Daphne J. Smits,Federico Ferraro,et al.

20253 citations