Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S2_Variants
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B et al.
Epilepsia Open, 2023
36719163 (PubMed )
Supplement: EPI4-8-645-s001.xlsx › Supplementary_table
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado A et al.
Human Molecular Genetics, 2022
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