Sergi Beltran
19PUBLICATIONS
174CO-AUTHORS
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Publications (19)
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|Dec 01, 2025
<i>SYNE1</i> Deficiency Manifesting Primarily With Motor Neuron Disease.Henriette V F Senghor, Raúl Domínguez Rubio, Carla Marco
|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
|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
Holm Graessner
10 joint publications
Matthis Synofzik
7 joint publications
Kornelia Ellwanger
7 joint publications
Steven Laurie
6 joint publications
Christian Gilissen
6 joint publications
Hanns Lochmüller
5 joint publications
Anthony J Brookes
5 joint publications
Lisenka E L M Vissers
5 joint publications
Ana Rath
5 joint publications
Peter A C 't Hoen
