Associated Papers
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_S2
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_S2
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.
Wayhelova M et al.
Journal of Human Genetics, 2022
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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