Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

Chen, F., Ahimaz, P., Nguyen, Q. M., Lewis, R., Chung, W. K., Ta, C. N., Szigety, K. M., Sheppard, S. E., Campbell, I. M., Wang, K., Weng, C., & Liu, C. (2024). Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. Npj Digital Medicine, 7(1). https://doi.org/10.1038/s41746-024-01331-1

Authors:

Fangyi Chen

Priyanka Ahimaz

Quan M Nguyen

Rachel Lewis

Wendy K Chung

Casey N Ta

Katherine M Szigety

Sarah E Sheppard

Ian M Campbell

Kai Wang

Chunhua Weng