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
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR et al.
Annals of Neurology, 2024
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S et al.
The Journal of Clinical Investigation, 2017
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