Drosophila Functional Genomics Core
Custom fly models
& experiments
We design and carry out Drosophila studies tailored to your research.
Fly models · Custom experiments · Human variants
- 01Consultation
- 02Design & quote
- 03Fly experiments
- 04Results
Rare disease genetics & human variants
Functional studies of CDK19, MARK2, DDX23 and EMC1 connect human variants with their biological effects.
Selected collaborative studies (5)
- Koh HY, et al. Identification of novel CDK19 variants and Drosophila-based in vivo functional evidence supporting pathogenicity in neurodevelopmental disorders. Genetics in Medicine. Published online October 1, 2026;102735.
- Yang Y, et al. Loss-of-function variants in MARK2 cause neurodevelopmental disorder. HGG Advances. 2026;7(3):100600.
- Sahu RK, et al. DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure. Genetics in Medicine Open. 2026;4:104484.
- Chung HL, et al. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Human Molecular Genetics. 2022;31(19):3231–3244.
- Chung HL, et al. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. American Journal of Human Genetics. 2020;106(5):717–725.
Collaborations · Houston Methodist · Switzerland · Qatar · Israel · Korea