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Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency. Journal of Biological Chemistry. 2022; 298.
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Journal of Genetic Counseling. 2022; 31:153-163.
Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results. (2019) 28:182-193.
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