R. Mao

Bone resorption in syndromes of the Ras/MAPK pathway

Jeffrey E. Swensen, J. Swensen, J. Carey, 2011, Clinical genetics.

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database

R. Margraf, Christine Miller, R. Mao, 2022, Human mutation.

Prader-Willi and Angelman Syndromes: Mechanisms and Management

Alena Egense, R. Mao, Makenzie L. Fulmer, 2023, The application of clinical genetics.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

Detection of chromosomal translocations in formalin‐fixed paraffin‐embedded (FFPE) leukemic specimens by digital expression profiling

M. Liew, R. Mao, M. E. Salama, 2015, International journal of laboratory hematology.

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Christine Miller, P. Grubb, Luca Brunelli, 2023, Children.

SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine

Christine Miller, L. Botto, M. Velinder, 2023, Neurology: Genetics.