Cold Spring Harbor Molecular Case Studies
Displaying 1 - 4 of 4
Ganapathi, M., Buchovecky, C. M., Cristo, F., Ahimaz, P., Ruzal-Shapiro, C., Wou, K., Inácio, J. M., Iglesias, A., Belo, J. A., & Jobanputra, V. (2022). A novel biallelic loss-of-function variant inDAND5causes heterotaxy syndrome. Molecular Case Studies, 8(7), a006248. https://doi.org/10.1101/mcs.a006248
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Columbia Affiliation
Tirado-Class, N., Hathaway, C., Chung, W. K., & Dungrawala, H. (2022). PHIP variants associated with Chung–Jansen syndrome disrupt replication fork stability and genome integrity. Molecular Case Studies, 8(5), a006212. https://doi.org/10.1101/mcs.a006212
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Columbia Affiliation
Barua, S., Berger, S., Pereira, E. M., & Jobanputra, V. (2022). Expanding the phenotype of ATP6AP1 deficiency. Molecular Case Studies, 8(4), a006195. https://doi.org/10.1101/mcs.a006195
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Columbia Affiliation
Thomas-Wilson, A., Dharmadhikari, A. V., Heymann, J. J., Jobanputra, V., DiMauro, S., Hirano, M., Naini, A. B., & Ganapathi, M. (2022). Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease. Molecular Case Studies, mcs.a006173. https://doi.org/10.1101/mcs.a006173
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Columbia Affiliation