Anya Revah Politi

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

S. Zha, M. Mansukhani, K. Anyane-Yeboa, 2017, Journal of Human Genetics.