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Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia
Undiagnosed Diseases Network, 2026, In: Human molecular genetics. 35, 3, ddaf195.Research output: Contribution to journal › Article › peer-review
Open Access -
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
Undiagnosed Diseases Network, Oct 10 2025, In: EMBO Molecular Medicine. 17, 10, p. 2562-2585 24 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Link opens in a new tab Scopus citations -
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
Zerafati-Jahromi, G., Oxman, E., Hoang, H. D., Charng, W. L., Kotla, T., Yuan, W., Ishibashi, K., Sebaoui, S., Luedtke, K., Winrow, B., Ganetzky, R. D., Ruiz, A., Manso-Basúz, C., Spataro, N., Kannu, P., Athey, T., Peroutka, C., Barnes, C., Sidlow, R. & Anadiotis, G. & 34 others, , Mar 6 2025, In: American journal of human genetics. 112, 3, p. 537-553 17 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations -
A fluorescent reporter for rapid assessment of autophagic flux reveals unique autophagy signatures during C. elegans post-embryonic development and identifies compounds that modulate autophagy
Dawson, Z. D., Sundaramoorthi, H., Regmi, S., Zhang, B., Morrison, S., Fielder, S. M., Zhang, J. R., Hoang, H., Perlmutter, D. H., Luke, C. J., Silverman, G. A. & Pak, S. C., 2024, In: Autophagy Reports. 3, 1, 2371736.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations -
Brain malformations and seizures by impaired chaperonin function of TRiC
Kraft, F., Rodriguez-Aliaga, P., Yuan, W., Franken, L., Zajt, K., Hasan, D., Lee, T. T., Flex, E., Hentschel, A., Innes, A. M., Zheng, B., Suh, D. S. J., Knopp, C., Lausberg, E., Krause, J., Zhang, X., Trapane, P., Carroll, R., McClatchey, M. & Fry, A. E. & 67 others, , Nov 1 2024, In: Science. 386, 6721, p. 516-525 10 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Link opens in a new tab Scopus citations