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
A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.
Zeng L et al.
Molecular Syndromology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.
Tedesco Silva LM et al.
Cerebellum (london, England), 2023
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R et al.
Human Genome Variation, 2023
37280227 (PubMed )
Supplement: 41439_2023_245_MOESM1_ESM.xlsx › Sheet1
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
Yanagishita T et al.
American Journal of Medical Genetics. Part A, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
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