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1. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
2. Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
3. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
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