Genomic Imprinting and Parental Gene Expression Control

Displaying 1 - 12 of 12CSV
Ahn, J., Hwang, I.-S., Park, M.-R., Rosa-Velazquez, M., Cho, I.-C., Relling, A. E., Hwang, S., & Lee, K. (2025). Evolutionary lineage-specific genomic imprinting at the ZNF791 locus. PLOS Genetics, 21(1), e1011532. https://doi.org/10.1371/journal.pgen.1011532
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Richter, F., Rutherford, K. D., Cooke, A. J., Meshkati, M., Eddy-Abrams, V., Greene, D., Kosowsky, J., Park, Y., Aggarwal, S., Burke, R. J., Chang, W., Connors, J., Giannone, P. J., Hays, T., Khattar, D., Polak, M., Senaldi, L., Smith-Raska, M., Sridhar, S., … Turro, E. (2024). A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. American Journal of Kidney Diseases, 83(6), 829–833. https://doi.org/10.1053/j.ajkd.2023.12.011
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Mehta, L., Begun, Y., Sanyoura, M., & Stanley, C. (2024). P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians. Genetics in Medicine Open, 2, 101138. https://doi.org/10.1016/j.gimo.2024.101138
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Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T. Y., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J. L., Saraga, M., Saraga-Babic, M., Westland, R., Bodria, M., Piaggio, G., Bendapudi, P. K., … Sanna-Cherchi, S. (2023). Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Genetics in Medicine, 25(12), 100983. https://doi.org/10.1016/j.gim.2023.100983
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Sarnowski, C., Huan, T., Ma, Y., Joehanes, R., Beiser, A., DeCarli, C. S., Heard-Costa, N. L., Levy, D., Lin, H., Liu, C.-T., Liu, C., Meigs, J. B., Satizabal, C. L., Florez, J. C., Hivert, M.-F., Dupuis, J., De Jager, P. L., Bennett, D. A., Seshadri, S., & Morrison, A. C. (2023). Multi-tissue epigenetic analysis identifies distinct associations underlying insulin resistance and Alzheimer’s disease at CPT1A locus. Clinical Epigenetics, 15(1). https://doi.org/10.1186/s13148-023-01589-4
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Wang, E., Wang, M., Guo, L., Fullard, J. F., Micallef, C., Bendl, J., Song, W., Ming, C., Huang, Y., Li, Y., Yu, K., Peng, J., Bennett, D. A., De Jager, P. L., Roussos, P., Haroutunian, V., & Zhang, B. (2023). Genome‐wide methylomic regulation of multiscale gene networks in Alzheimer’s disease. Alzheimer’s & Dementia, 19(8), 3472–3495. Portico. https://doi.org/10.1002/alz.12969
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Tayebi, N., Leon‐Ricardo, B., McCall, K., Mehinovic, E., Engelstad, K., Huynh, V., Turner, T. N., Weisenberg, J., Thio, L. L., Hruz, P., Williams, R. S. B., De Vivo, D. C., Petit, V., Haller, G., & Gurnett, C. A. (2023). Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. Annals of Clinical and Translational Neurology, 10(5), 787–801. Portico. https://doi.org/10.1002/acn3.51767
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Martinez-Calle, M., Courbon, G., Hunt-Tobey, B., Francis, C., Spindler, J., Wang, X., dos Reis, L. M., Martins, C. S. W., Salusky, I. B., Malluche, H., Nickolas, T. L., Moyses, R. M. A., Martin, A., & David, V. (2023). Transcription factor HNF4α2 promotes osteogenesis and prevents bone abnormalities in mice with renal osteodystrophy. Journal of Clinical Investigation, 133(11). https://doi.org/10.1172/jci159928
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Ahn, J., Lee, J., Kim, D.-H., Hwang, I.-S., Park, M.-R., Cho, I.-C., Hwang, S., & Lee, K. (2022). Loss of Monoallelic Expression of IGF2 in the Adult Liver Via Alternative Promoter Usage and Chromatin Reorganization. Frontiers in Genetics, 13. https://doi.org/10.3389/fgene.2022.920641
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Kumar, A., Im, K., Banjevic, M., Ng, P. C., Tunstall, T., Garcia, G., Galhardo, L., Sun, J., Schaedel, O. N., Levy, B., Hongo, D., Kijacic, D., Kiehl, M., Tran, N. D., Klatsky, P. C., & Rabinowitz, M. (2022). Whole-genome risk prediction of common diseases in human preimplantation embryos. Nature Medicine, 28(3), 513–516. https://doi.org/10.1038/s41591-022-01735-0
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Dar, P., MacPherson, C., Jacobsson, B., Egbert, M., Malone, F. D., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Edwards, L., Strong, N., Haeri, S., Silver, R. M., Vohra, N., Hyett, J., Clifton, R., Kao, C., Martin, K., … Norton, M. E. (2022). cfDNA prenatal screening for Cri-Du-Chat, Prader-Willi/Angelman and 1p36del syndromes in 10,971 pregnancies with genetic confirmation. American Journal of Obstetrics and Gynecology, 226(1), S526–S527. https://doi.org/10.1016/j.ajog.2021.11.868
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