Nika Schuermans
Gent, VLG, Belgium
Last Updated: 09/26/2026
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Found 15 publications
Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.
Journal: Journal of neuromuscular diseases
Published: July 15, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.
Journal: European journal of human genetics : EJHG
Published: March 16, 2026
Case report: Recurrent catatonia in a patient with 17p13.3 microduplication syndrome.
Journal: Frontiers in psychiatry
Published: April 06, 2025
Cracking rare disorders: a new minimally invasive RNA-seq protocol.
Journal: NPJ genomic medicine
Published: November 18, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Journal: NPJ genomic medicine
Published: February 14, 2024
Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).
Journal: Journal of neurology
Published: July 19, 2023
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 12, 2023
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Journal: Nature medicine
Published: May 01, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Journal: Acta neuropathologica
Published: December 29, 2022
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Journal: Neurology. Genetics
Published: October 19, 2022
Last Updated: 09/26/2026