Associated Papers
The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry.
Waghmare S et al.
Genes, 2026
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing.
Pablo JLB et al.
Cell Reports, 2023
37267104 (PubMed )
Supplement: NIHMS1912772-supplement-2.xlsx › Sheet1
Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.
Zhou G et al.
Medicine, 2022
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf
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