Ida Paramonov

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 31 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

A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.

A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.

Journal: European journal of human genetics : EJHG

Published: September 06, 2025

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

Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.

Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.

Journal: European journal of human genetics : EJHG

Published: January 23, 2025

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 17, 2024

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 17, 2024

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.

Journal: American journal of human genetics

Published: November 27, 2024

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Journal: Journal of neuromuscular diseases

Published: May 17, 2024

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Journal: NPJ genomic medicine

Published: February 14, 2024

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.

Journal: Journal of neurology

Published: February 13, 2024

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

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Last Updated: 09/26/2026