Federico Ferraro

13PUBLICATIONS
89CO-AUTHORS
Data models, storage and indexingNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Cell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)
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Publications (13)

|Oct 31, 2026
MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains.

|Oct 24, 2026
MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains.

|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

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Frequent Collaborators

5 joint publications

Tjakko W van Ham

5 joint publications

Tahsin Stefan Barakat

4 joint publications

Rachel Schot

4 joint publications

Frank Sleutels