Davide Piscia

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 17 publications

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics
Published: January 06, 2026

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine
Published: June 19, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics
Published: April 11, 2025

An interconnected data infrastructure to support large-scale rare disease research.

An interconnected data infrastructure to support large-scale rare disease research.

Journal: GigaScience
Published: September 07, 2023

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

Journal: European journal of human genetics : EJHG
Published: May 17, 2023

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine
Published: May 01, 2023

Wnt genes in colonic polyposis predisposition.

Wnt genes in colonic polyposis predisposition.

Journal: Genes & diseases
Published: October 03, 2022

The GA4GH Phenopacket schema defines a computable representation of clinical data.

The GA4GH Phenopacket schema defines a computable representation of clinical data.

Journal: Nature biotechnology
Published: June 15, 2022

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.

Journal: Cell genomics
Published: November 29, 2021

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Journal: Human mutation
Published: October 08, 2021

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Journal: European journal of human genetics : EJHG
Published: August 16, 2021

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

Journal: The Journal of molecular diagnostics : JMD
Published: June 22, 2021
Showing 1-12 of 17

Last Updated: 09/26/2026