Associated Papers
Pleiotropic effects of MORC2 derive from its epigenetic signature.
Peymani F et al.
Brain : a Journal of Neurology, 2026
40302207 (PubMed )
Supplement: awaf159_supplementary_data.zip › brain-2025-00099-File009.xlsx › Phenotypes_in_MORC2
Improved diagnosis of patients with rare diseases through the application of constrained coding region annotation and de novo status.
Odhams C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C et al.
Nature Genetics, 2025
40379786 (PubMed )
Supplement: 41588_2025_2184_MOESM1_ESM.pdf
Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.
Jacquier A et al.
Frontiers in Cellular Neuroscience, 2022
MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.
Yang H et al.
Medicine, 2021
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R et al.
European Journal of Neurology, 2021
A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.
Vujovic D et al.
Journal of the Peripheral Nervous System : Jpns, 2021
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