Research output per year
Research output per year
Personal profile
Research interests
Autopsy pathology, pediatric pathology, electron microscopy
Clinical interests
Autopsy pathology, pediatric pathology, electron microscopy
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Dive into the research topics where Frances White is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B
Viehl, L., Wegner, D. J., Hmiel, S. P., White, F. V., Jain, S., Cole, F. S. & Wambach, J. A., Feb 2023, In: Pediatric Nephrology. 38, 2, p. 605-609 5 p.Research output: Contribution to journal › Article › peer-review
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Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins
Luke, C. J., Markovina, S., Good, M., Wight, I. E., Thomas, B. J., Linneman, J. M., Lanik, W. E., Koroleva, O., Coffman, M. R., Miedel, M. T., Gong, Q., Andress, A., Campos Guerrero, M., Wang, S., Chen, L. Y., Beatty, W. L., Hausmann, K. N., White, F. V., Fitzpatrick, J. A. J., Orvedahl, A., & 2 others, Dec 2022, In: Communications Biology. 5, 1, 47.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Rosano, K. K., Wegner, D. J., Shinawi, M., Baldridge, D., Bucelli, R. C., Dahiya, S., White, F. V., Willing, M. C., McAllister, W., Taft, R. J., Bluske, K., Buchanan, A., Cole, F. S. & Wambach, J. A., Jul 2021, In: American Journal of Medical Genetics, Part A. 185, 7, p. 2190-2197 8 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling
Tomer, Y., Wambach, J., Knudsen, L., Zhao, M., Rodriguez, L. R., Murthy, A., White, F. V., Venosa, A., Katzen, J., Ochs, M., Hamvas, A., Beers, M. F. & Mulugeta, S., Aug 2021, In: American Journal of Physiology - Lung Cellular and Molecular Physiology. 321, 2, p. L291-L307Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants
Hu, J. Y., Yang, P., Wegner, D. J., Heins, H. B., Luke, C. J., Li, F., White, F. V., Silverman, G. A., Sessions Cole, F. & Wambach, J. A., Jul 1 2020, In: Human mutation. 41, 7, p. 1298-1307 10 p.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations