Federico Ferraro
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 15 publications
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: Nature genetics
Published: August 21, 2025
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.
Journal: European journal of human genetics : EJHG
Published: July 04, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.
Journal: European journal of human genetics : EJHG
Published: March 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Journal: HGG advances
Published: February 27, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.
Journal: European journal of human genetics : EJHG
Published: February 13, 2025
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.
Journal: Clinical genetics
Published: May 04, 2024
deCLUTTER2+ - a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes.
Journal: Disease models & mechanisms
Published: November 08, 2022
Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case.
Journal: Parkinsonism & related disorders
Published: July 21, 2022
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Journal: Brain : a journal of neurology
Published: March 29, 2022
A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia.
Journal: Brain communications
Published: February 14, 2022
Last Updated: 09/26/2026