Machteld M Oud

9PUBLICATIONS

87CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Regenerative medicine (incl. stem cells)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesAutoimmunity

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Publications (9)

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|May 08, 2026

Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94.

|Jan 06, 2026

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|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 <i>TUBA4A</i> 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 (<i>APOE</i>) Variants.

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

|May 28, 2024

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.

Kae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn

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Frequent Collaborators

3 joint publications

Lisenka E L M Vissers

Kornelia Ellwanger

Felix Brechtmann

Thomas Hentrich

Steven Laurie

Holm Graessner

Kornelia Neveling

German Demidov

Bart van der Sanden

Rebeka Luknárová

Frequent Collaborators

3 joint publications

Lisenka E L M Vissers

2 joint publications

Kornelia Ellwanger

2 joint publications

Felix Brechtmann

2 joint publications

Thomas Hentrich