Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
38685113 (PubMed )
Supplement: 40246_2024_604_MOESM1_ESM.xlsx › Table_S1
Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.
Faulkner IE et al.
Frontiers in Cellular Neuroscience, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37577678 (PubMed )
Supplement: media-1.xlsx › Table_S1
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P et al.
Epilepsia, 2023
A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Clatot J et al.
Annals of Clinical and Translational Neurology, 2023
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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