Leslie Matalonga

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 58 publications

Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.

Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.

Journal: Journal of neuromuscular diseases

Published: July 15, 2026

Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

Journal: Journal of neurology

Published: May 02, 2026

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Journal: JCO precision oncology

Published: April 16, 2026

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

Journal: Frontiers in public health

Published: March 03, 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

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Journal: Annals of clinical and translational neurology

Published: February 24, 2025

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

Journal: Neurology. Genetics

Published: January 17, 2025

Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Journal: European journal of human genetics : EJHG

Published: December 10, 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

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

Journal: Orphanet journal of rare diseases

Published: November 14, 2024

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

Journal: Brain : a journal of neurology

Published: October 27, 2024

Showing 1-12 of 58

Last Updated: 09/26/2026