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Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency. Staklinski, SJ; Chang, MC; Yu, F; Collins Ruff, K; Franz, DN; Qian, Z; Bloom, LB; Merritt, ME; McKenna, R; Kilberg, MS. Journal of Biological Chemistry. 2022; 298.

Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Webster, J; Wiley, S; Schorry, E; Bowers, K; Collins Ruff, K; Riddle, I. 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. Matias, M; Wusik, K; Neilson, D; Zhang, X; Valencia, CA; Collins, K. (2019) 28:182-193.

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