DNA Copy Number Variations

Displaying 1 - 13 of 13CSV
Marsden, A. A., Corcoran, M., Hedestam, G. K., Garrett, N., Karim, S. S. A., Moore, P. L., Kitchin, D., Morris, L., & Scheepers, C. (2024). Novel polymorphic and copy number diversity in the antibody IGH locus of South African individuals. Immunogenetics, 77(1). https://doi.org/10.1007/s00251-024-01363-7
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Zhu, Y., Pei, X., Novaj, A., Setton, J., Bronder, D., Derakhshan, F., Selenica, P., McDermott, N., Orman, M., Plum, S., Subramanyan, S., Braverman, S. H., McMillan, B., Sinha, S., Ma, J., Gazzo, A., Khan, A., Bakhoum, S., Powell, S. N., … Riaz, N. (2024). Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors. Genome Medicine, 16(1). https://doi.org/10.1186/s13073-024-01371-y
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Schrauwen, I., Rajendran, Y., Acharya, A., Öhman, S., Arvio, M., Paetau, R., Siren, A., Avela, K., Granvik, J., Leal, S. M., Määttä, T., Kokkonen, H., & Järvelä, I. (2024). Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-62009-y
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Jutla, A., Harvey, L., Veenstra‐VanderWeele, J., & Chung, W. K. (2024). Motor difficulties in 16p11.2 copy number variation. Autism Research, 17(5), 906–916. Portico. https://doi.org/10.1002/aur.3132
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Reddam, A., Bloomquist, T. R., Covell, L. T., Hu, H., Oberfield, S. E., Gallagher, D., Miller, R. L., Goldsmith, J., Rundle, A. G., Baccarelli, A. A., Herbstman, J. B., & Kupsco, A. (2024). Inverse associations of cord blood mitochondrial DNA copy number with childhood adiposity. Obesity, 32(5), 989–998. Portico. https://doi.org/10.1002/oby.24005
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Workalemahu, T., Dalton, S., Son, S. L., Allshouse, A., Carey, A. Z., Page, J. M., Blue, N. R., Thorsten, V., Goldenberg, R. L., Pinar, H., Reddy, U. M., & Silver, R. M. (2023). Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study. BJOG: An International Journal of Obstetrics & Gynaecology, 131(2), 157–162. Portico. https://doi.org/10.1111/1471-0528.17561
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Bonini, K. E., Thomas‐Wilson, A., Marathe, P. N., Sebastin, M., Odgis, J. A., Di Biase, M., Kelly, N. R., Ramos, M. A., Insel, B. J., Scarimbolo, L., Rehman, A. U., Guha, S., Okur, V., Abhyankar, A., Phadke, S., Nava, C., Gallagher, K. M., Elkhoury, L., Edelmann, L., … Jobanputra, V. (2023). Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. Clinical Genetics, 104(2), 210–225. Portico. https://doi.org/10.1111/cge.14365
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Smith, A. R., Hinojosa Briseño, A., Picard, M., & Cardenas, A. (2023). The prenatal environment and its influence on maternal and child mitochondrial DNA copy number and methylation: A review of the literature. Environmental Research, 227, 115798. https://doi.org/10.1016/j.envres.2023.115798
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Dalton, S. E., Workalemahu, T., Allshouse, A. A., Page, J. M., Reddy, U. M., Saade, G. R., Pinar, H., Goldenberg, R. L., Dudley, D. J., & Silver, R. M. (2023). Copy number variants and fetal growth in stillbirths. American Journal of Obstetrics and Gynecology, 228(5), 579.e1-579.e11. https://doi.org/10.1016/j.ajog.2022.11.1274
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Lim, T. Y., Verbitsky, M., & Sanna-Cherchi, S. (2023). ParseCNV2: a versatile and integrated tool for copy number variation association studies. European Journal of Human Genetics, 31(3), 275–277. https://doi.org/10.1038/s41431-022-01280-x
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Dennis, J., Tyrer, J. P., Walker, L. C., Michailidou, K., Dorling, L., Bolla, M. K., Wang, Q., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Freeman, L. E. B., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Bogdanova, N. V., … Easton, D. F. (2022). Rare germline copy number variants (CNVs) and breast cancer risk. Communications Biology, 5(1). https://doi.org/10.1038/s42003-021-02990-6
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Ming, C., Wang, M., Wang, Q., Neff, R., Wang, E., Shen, Q., Reddy, J. S., Wang, X., Allen, M., Ertekin‐Taner, N., De Jager, P. L., Bennett, D. A., Haroutunian, V., Schadt, E., & Zhang, B. (2021). Whole genome sequencing–based copy number variations reveal novel pathways and targets in Alzheimer’s disease. Alzheimer’s & Dementia, 18(10), 1846–1867. Portico. https://doi.org/10.1002/alz.12507
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Longchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., … Arking, D. E. (2021). Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Human Genetics, 141(1), 127–146. https://doi.org/10.1007/s00439-021-02394-w
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