Research output per year
Research output per year
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Dive into the research topics where Susan Brooks is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
Huang, Y., Sharma, R., Feigenbaum, A., Lee, C., Sahai, I., Sanchez Russo, R., Neira, J., Brooks, S. S., Jackson, K. E., Wong, D., Cederbaum, S., Lacbawan, F. L., Rowland, C. M., Tanpaiboon, P. & Salazar, D., Jun 2021, In: Molecular Genetics and Metabolism Reports. 27, 100735.Research output: Contribution to journal › Article › peer-review
Open Access -
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
UCLA California Center for Rare Disease, Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 136.Research output: Contribution to journal › Article › peer-review
Open Access -
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Li, L., Ghorbani, M., Weisz-Hubshman, M., Rousseau, J., Thiffault, I., Schnur, R. E., Breen, C., Oegema, R., Weiss, M. M. M., Waisfisz, Q., Welner, S., Kingston, H., Hills, J. A., Boon, E. M. J., Basel-Salmon, L., Konen, O., Goldberg-Stern, H., Bazak, L., Tzur, S., Jin, J., & 14 others, Mar 2 2020, In: Journal of Clinical Investigation. 130, 3, p. 1431-1445 15 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease
Beck, D. B., Ferrada, M. A., Sikora, K. A., Ombrello, A. K., Collins, J. C., Pei, W., Balanda, N., Ross, D. L., Ospina Cardona, D., Wu, Z., Patel, B., Manthiram, K., Groarke, E. M., Gutierrez-Rodrigues, F., Hoffmann, P., Rosenzweig, S., Nakabo, S., Dillon, L. W., Hourigan, C. S., Tsai, W. L., & 42 others, Dec 31 2020, In: New England Journal of Medicine. 383, 27, p. 2628-2638 11 p.Research output: Contribution to journal › Article › peer-review
Open Access28 Scopus citations -
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
Burnside, R. D., Molinari, S., Botti, C., Brooks, S., Chung, W. K., Mehta, L., Schwartz, S. & Papenhausen, P., Sep 1 2018, In: American Journal of Medical Genetics, Part A. 176, 9, p. 1956-1963 8 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations