Machteld M Oud

11PUBLICATIONS
113CO-AUTHORS
Psychology of ageingNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Autoimmunity
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Publications (11)

|Aug 21, 2026
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

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

|May 08, 2026
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94.

|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

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Mar 28, 2025
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants.

Elise A Ferreira, Machteld M Oud, Saskia N van der Crabben

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Frequent Collaborators

4 joint publications

Lisenka E L M Vissers

3 joint publications

German Demidov

3 joint publications

Kornelia Neveling

2 joint publications

Mirjam Langeveld