Research output per year
Research output per year
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 -
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 -
Concurrent triplication and uniparental isodisomy: Evidence for microhomology-mediated break-induced replication model for genomic rearrangements
Sahoo, T., Wang, J. C., Elnaggar, M. M., Sanchez-Lara, P., Ross, L. P., Mahon, L. W., Hafezi, K., Deming, A., Hinman, L., Bruno, Y., Bartley, J. A., Liehr, T., Anguiano, A. & Jones, M., Jan 11 2015, In: European Journal of Human Genetics. 23, 1, p. 61-66 6 p.Research output: Contribution to journal › Article › peer-review
Open Access