Edoardo Giacopuzzi

Milan, 20157, Italy

Last Updated: 09/26/2026

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Found 48 publications

Competing gene regulatory networks drive naive and memory B cell differentiation.

Competing gene regulatory networks drive naive and memory B cell differentiation.

Journal: Molecular systems biology
Published: July 31, 2025

Hundreds of cardiac MRI traits derived using 3D diffusion autoencoders share a common genetic architecture.

Hundreds of cardiac MRI traits derived using 3D diffusion autoencoders share a common genetic architecture.

Journal: Nature communications
Published: December 13, 2024

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Journal: Brain : a journal of neurology
Published: May 16, 2024

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

Journal: Brain communications
Published: March 12, 2024

Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types.

Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types.

Journal: Nature communications
Published: August 22, 2023

CHARR efficiently estimates contamination from DNA sequencing data.

CHARR efficiently estimates contamination from DNA sequencing data.

Journal: bioRxiv : the preprint server for biology
Published: July 10, 2023

CHARR efficiently estimates contamination from DNA sequencing data.

CHARR efficiently estimates contamination from DNA sequencing data.

Journal: American journal of human genetics
Published: June 28, 2023

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Journal: American journal of human genetics
Published: May 15, 2023

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Journal: Genome medicine
Published: December 14, 2022

Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder.

Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder.

Journal: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry
Published: May 26, 2022

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Journal: Journal of the Endocrine Society
Published: February 01, 2022

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.

Journal: Nucleic acids research
Published: November 26, 2021
Showing 1-12 of 48

Last Updated: 09/26/2026