Galuh D N Astuti

3PUBLICATIONS
210CO-AUTHORS
Neurology and neuromuscular diseasesGene mapping
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Publications (3)

|Jul 17, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

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

Wouter Steyaert, Lydia Sagath, German Demidov

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Frequent Collaborators

3 joint publications

Kornelia Neveling

2 joint publications

German Demidov

2 joint publications

Alexander Hoischen

2 joint publications

Ronny Derks