Karen Chong

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis

T. Sparks, M. Pauta, K. Gilmore, 2023, Prenatal diagnosis.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

C. Poulton, S. Lakhani, G. Chapman, 2024, The Journal of clinical investigation.