Steven Laurie

24PUBLICATIONS
356CO-AUTHORS
Neurology and neuromuscular diseasesCancer geneticsNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Genomics
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Publications (24)

|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.

|Apr 16, 2026
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Sep 25, 2025
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.

Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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Frequent Collaborators

13 joint publications

German Demidov

10 joint publications

Holm Graessner

8 joint publications

Sergi Beltran

7 joint publications

Christian Gilissen