Associated Papers
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
Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
Okamoto N et al.
American Journal of Medical Genetics. Part A, 2024
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Jangam SV et al.
Genetics, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C et al.
Nature Communications, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Jangam S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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