Jessica Giannelli

发表

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2021, bioRxiv.

Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

G. Carvill, J. Charrow, J. Millichap, 2020, American journal of medical genetics. Part A.