Associated Papers
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Lee E et al.
Human Molecular Genetics, 2026
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
Ma M et al.
Human Molecular Genetics, 2023
A Japanese boy with SUPT16H-related neurodevelopmental disorder and congenital heart defects.
Nishikiori A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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