Lama AlAbdi

This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

This study shows that tRNA thiolation defects in humans cause proteostasis and tissue homeostasis issues, but mice with similar defects develop normally.

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

The paper shows Oct4 inhibits Lsd1 activity, maintaining H3K4me1 at pluripotency enhancers and promoting a primed state that can be reactivated.