Associated Papers
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
36331550 (PubMed )
Supplement: mmc1.pdf
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
Marco Hernández AV et al.
American Journal of Medical Genetics. Part A, 2022
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ et al.
Npj Genomic Medicine, 2016
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