Mariam Maksutova

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

J. Kitzman, R. Lemons, B. Burugula, 2020, bioRxiv.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.