Personal profile
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De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Lu, S., Ma, M., Mao, X., Bacino, C. A., Jankovic, J., Sutton, V. R., Bartley, J. A., Wang, X., Rosenfeld, J. A., Beleza-Meireles, A., Chauhan, J., Pan, X., Li, M., Liu, P., Prescott, K., Amin, S., Davies, G., Wangler, M. F., Dai, Y. & Bellen, H. J., Oct 6 2022, In: American Journal of Human Genetics. 109, 10, p. 1932-1943 12 p.Research output: Contribution to journal › Article › peer-review
Open Access -
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
the DDD Study, Jul 2 2020, In: American Journal of Human Genetics. 107, 1, p. 164-172 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Glutamine and hyperammonemic crises in patients with urea cycle disorders
Lee, B., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S. A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S. C., Berquist, W., Gallagher, R. C., Harding, C. O., McCandless, S. E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D. F. & Mokhtarani, M. & 1 others, , Jan 1 2016, In: Molecular Genetics and Metabolism. 117, 1, p. 27-32 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate
Hook, D., Diaz, G. A., Lee, B., Bartley, J., Longo, N., Berquist, W., Le Mons, C., Rudolph-Angelich, I., Porter, M., Scharschmidt, B. F. & Mokhtarani, M., Mar 2016, In: Molecular Genetics and Metabolism Reports. 6, p. 34-40 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
UCD Consortium, Jul 2 2015, In: Genetics in Medicine. 17, 7, p. 561-568 8 p.Research output: Contribution to journal › Article › peer-review
Open Access