Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Federico Ferraro

11PUBLICATIONS

73CO-AUTHORS

Gene and molecular therapyNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Cell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (11)

Sort by Publication Date:

|Apr 23, 2026

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

|Mar 30, 2026

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

|Mar 11, 2026

HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.

Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A Wai

|Oct 20, 2025

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

Daphne J Smits, Federico Ferraro, Mark Drost

|Jul 29, 2025

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

Daphne J Smits, Christophe Debuy, Alice S Brooks

|Jun 11, 2024

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.

Rachel Schot, Federico Ferraro, Geert Geeven

Pageof 2

Frequent Collaborators

5 joint publications

Tahsin Stefan Barakat

4 joint publications

Rachel Schot

4 joint publications

Frank Sleutels

3 joint publications

Christina Fevga

3 joint publications

Wim Mandemakers

3 joint publications

Tjakko J van Ham

2 joint publications

Lies H Hoefsloot

2 joint publications

Ernest Turro

2 joint publications

Vincenzo Bonifati

2 joint publications

Guido J Breedveld

Frequent Collaborators

5 joint publications

Tahsin Stefan Barakat

4 joint publications

Rachel Schot

4 joint publications

Frank Sleutels

3 joint publications

Christina Fevga

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on : Aug 03, 2018

See more related videos

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on : Aug 03, 2018

See more related videos