Mengqi Ma

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

J. Pruneda, Oguz Kanca, D. Sweetser, 2023, eLife.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.

De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects

Lauren S Blieden, S. Lalani, B. Mandriani, 2024, medRxiv.