Sergi Beltran

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 100 publications

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

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

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

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

Journal: Neurology. Genetics

Published: January 17, 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

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

Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future.

Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future.

Journal: Biomolecules

Published: November 10, 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

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

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

Journal: European journal of human genetics : EJHG

Published: June 05, 2024

Showing 1-12 of 100

Last Updated: 09/26/2026