Associated Papers
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.
Musgrave SM et al.
Journal of the Royal Society of New Zealand, 2025
40756852 (PubMed )
Supplement: TNZR_A_2394128_SM9470.xlsx › Sheet1
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB et al.
Biology Open, 2024
38466077 (PubMed )
Supplement: biolopen-13-060286-TableS1.xlsx › Sheet1
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
NaV1.6 dysregulation within myocardial T-tubules by D96V calmodulin enhances proarrhythmic sodium and calcium mishandling.
Tarasov M et al.
The Journal of Clinical Investigation, 2023
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
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