Publications by authors named "Matalonga Leslie"

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Deficiency Manifesting Primarily With Motor Neuron Disease.
Henriette V F Senghor, Raúl Domínguez Rubio, Carla Marco, Ainara Salazar-Villacorta, Ariadna Padró-Miquel, Leslie Matalonga

Neurol Genet· December 2025

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A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Thiloka E Ratnaike, M Eren Kule, Ida Paramonov, Leslie Matalonga, Kiran Polavarapu

Eur J Hum Genet· December 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, Leslie Matalonga

Nat Genet· October 2025

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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.
Sivasankar Malaichamy, Romane Idoux, Kiran Polavarapu, Katarina Šikić, Elisa Holla, Leslie Matalonga

Brain· August 2025

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Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Florencia Pérez-Vidarte, Berta Estévez-Arias, Leslie Matalonga, Delia Yubero, Anna Codina

Ann Clin Transl Neurol· August 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, Leslie Matalonga

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, Leslie Matalonga

Am J Hum Genet· June 2025

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TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.
Christina Saier, Stefaan Sansen, Joanne Berghout, Kathrin Freyler, Moshe Einhorn, Leslie Matalonga

Orphanet J Rare Dis· May 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Leslie Matalonga

Genome Res· April 2025

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Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Berta Estévez-Arias, Leslie Matalonga, Delia Yubero, Kiran Polavarapu, Anna Codina

Eur J Hum Genet· March 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, Leslie Matalonga

Nat Med· February 2025

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Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Berta Estévez-Arias, Leslie Matalonga, Delia Yubero, Kiran Polavarapu, Anna Codina

Eur J Hum Genet· December 2024

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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Daniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, Velina Guergueltcheva, Ivailo Tournev, Leslie Matalonga

Pediatr Neurol· August 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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Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Kiran Polavarapu, Daniel O'Neil, Rachel Thompson, Sally Spendiff, Bevinahalli Nandeesh, Leslie Matalonga

Neuromuscul Disord· June 2024

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Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, Anna Codina, Carlos Ortez

J Neuromuscul Dis· May 2024

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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Leslie Matalonga

medRxiv· May 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

Eur J Hum Genet· February 2024

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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Kiran Polavarapu, Balaraju Sunitha, Ana Töpf, Veeramani Preethish-Kumar, Rachel Thompson, Leslie Matalonga

Brain· January 2024

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti

Genet Med· April 2023

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Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.
Anna Codina, Mònica Roldán, Daniel Natera-de Benito, Carlos Ortez, Robert Planas, Leslie Matalonga

Int J Mol Sci· March 2023

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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

Cell Genom· February 2023

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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Adriana P Rebelo, Ariel Ruiz, Maike F Dohrn, Melanie Wayand, Amjad Farooq, Leslie Matalonga

Genet Med· December 2022

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Position paper on management of personal data in environment and health research in Europe.
Govarts Eva, Gilles Liese, Bopp Stephanie, Holub Petr, Matalonga Leslie

Environ Int· July 2022

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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Leslie Matalonga

Nat Biotechnol· June 2022

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