Associated Papers
A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability.
Cohen R et al.
American Journal of Medical Genetics. Part A, 2025
High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.
O'Brien TJ et al.
Bmc Biology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
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