Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1
Episignature analysis of moderate effects and mosaics.
Oexle K et al.
European Journal of Human Genetics : Ejhg, 2023
37365401 (PubMed )
Supplement: 41431_2023_1406_MOESM4_ESM.xlsx › KMT2B
KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.
Aksoy A et al.
Molecular Syndromology, 2022
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
Ng A et al.
Bmc Neurology, 2020
32546208 (PubMed )
Supplement: 12883_2020_1798_MOESM7_ESM.xlsx › Sheet1
Update on KMT2B-Related Dystonia.
Zech M et al.
Current Neurology and Neuroscience Reports, 2019
KMT2B rare missense variants in generalized dystonia.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Zech M et al.
American Journal of Human Genetics, 2016
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