LM
Leslie Matalonga
Centro Nacional de Análisis Genómico
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Metabolism and Genetic Disorders · Hereditary Neurological Disorders
0000-0003-0807-2570
Employment
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CNAG Clinical Genomics Manager2022 - Present
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (65)
- The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations Save
- Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants Save
- A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort. Save
- SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease Save
- The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Save
- Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle. Save
- Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience Save
- Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum. Save
- TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project. Save
- Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing. Save
- Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Save
- Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. Save
- Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Save
- 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. Save
- Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Save
- Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Save
- An interconnected data infrastructure to support large-scale rare disease research. Save
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Save
- Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. Save
- Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. Save