Sergi Beltran

20PUBLICATIONS
196CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)GenomicsGene mappingCancer genetics
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Publications (20)

|Jul 20, 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.

|Dec 01, 2025
SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

Henriette V F Senghor, Raúl Domínguez Rubio, Carla Marco

|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|Sep 20, 2024
An interconnected data infrastructure to support large-scale rare disease research.

Lennart F Johansson, Steve Laurie, Dylan Spalding

|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

|Feb 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.

Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio

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Frequent Collaborators

10 joint publications

Matthis Synofzik

10 joint publications

Holm Graessner

8 joint publications

Steven Laurie

7 joint publications

Hanns Lochmüller