Publications by authors named "Ida Paramonov"

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The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, Ana Töpf, Alexander Hoischen

Genet Med· November 2025

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The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Vicente A Yépez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknárová, Ida Paramonov

Nat Genet· October 2025

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Ida Paramonov

Nat Med· August 2025

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Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.
Thiloka Ratnaike, Ida Paramonov, Catarina Olimpio, Alexander Hoischen, Sergi Beltran

Am J Hum Genet· June 2025

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Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.
Eszter Sara Arany, Catarina Olimpio, Ida Paramonov, Rita Horvath

Eur J Hum Genet· May 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Ida Paramonov

Nat Med· February 2025

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Ida Paramonov

NPJ Genom Med· October 2024

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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
Catarina Olimpio, Ida Paramonov, Leslie Matalonga, Steven Laurie, Katherine Schon

J Neuromuscul Dis· July 2024

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Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller

J Neurol· June 2024

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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
David Lagorce, Emeline Lebreton, Leslie Matalonga, Oscar Hongnat, Maroua Chahdil, Ida Paramonov

Eur J Hum Genet· February 2024

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Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.
Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Ida Paramonov

Cell Genom· February 2023

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A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.
Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Ida Paramonov

Nat Commun· October 2022

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A systematic study and literature review of parental somatic mosaicism of pathogenic variants in Marfan syndrome.
Paula Fernández-Álvarez, Marta Codina-Sola, Irene Valenzuela, Gisela Teixidó-Turá, Anna Cueto-González, Ida Paramonov

J Med Genet· June 2022

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo, Ida Paramonov

Hum Mutat· June 2022

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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, Nóra Zs Szabó, Serdal Güngör, Ida Paramonov

Brain· May 2022

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, , Ida Paramonov

Eur J Hum Genet· September 2021

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, , Ida Paramonov

Eur J Hum Genet· September 2021

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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Laura Blasco-Pérez, Ida Paramonov, Jordi Leno, Sara Bernal, Laura Alias

Hum Mutat· June 2021

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Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Noelia Baz-Redón, Sandra Rovira-Amigo, Ida Paramonov, Silvia Castillo-Corullón, Maria Cols Roig

Arch Bronconeumol (Engl Ed)· March 2021

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Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Jacques G Rivière, Clara Franco-Jarava, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov

Front Immunol· February 2021

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Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Núria Camats, Noelia Baz-Redón, Mónica Fernández-Cancio, María Clemente, Ariadna Campos-Martorell, Ida Paramonov

J Clin Endocrinol Metab· January 2021

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Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".
Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, Ida Paramonov

Ann Neurol· November 2019

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Severe brain involvement in 5q spinal muscular atrophy type 0.
Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, Ida Paramonov

Ann Neurol· September 2019

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Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Romina Dieli-Crimi, Mónica Martínez-Gallo, Clara Franco-Jarava, Maria Antolin, Laura Blasco, Ida Paramonov

Clin Immunol· October 2018

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A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms.
Tirso Pons, Ida Paramonov, César Boullosa, Kristina Ibáñez, Ana M Rojas

Proteins· January 2014

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