Genetic Testing

Displaying 1 - 25 of 25CSV
Zuccaro, M. V., LeDuc, C. A., & Thaker, V. V. (2024). Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity. Current Obesity Reports, 13(3), 626–641. https://doi.org/10.1007/s13679-024-00567-y
Publication Date
Cook, L., Verbrugge, J., Schwantes-An, T.-H., Schulze, J., Foroud, T., Hall, A., Marder, K. S., Mata, I. F., Mencacci, N. E., Nance, M. A., Schwarzschild, M. A., Simuni, T., Bressman, S., Wills, A.-M., Fernandez, H. H., Litvan, I., Lyons, K. E., Shill, H. A., Singer, C., … Alcalay, R. N. (2024). Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study. Brain, 147(8), 2668–2679. https://doi.org/10.1093/brain/awae142
Publication Date
Ma, B. M., Elefant, N., Tedesco, M., Bogyo, K., Vena, N., Murthy, S. K., Bheda, S. A., Yang, S., Tomar, N., Zhang, J. Y., Husain, S. A., Mohan, S., Kiryluk, K., Rasouly, H. M., & Gharavi, A. G. (2024). Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients. Kidney International, 106(1), 115–125. https://doi.org/10.1016/j.kint.2024.02.021
Publication Date
Shain, J., Michel, A., May, M. S., Qunaj, L., El-Sadr, W., Chung, W. K., Appelbaum, P. S., Jacobson, J. S., Justman, J., & Neugut, A. I. (2023). Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data. Seminars in Oncology, 50(6), 123–130. https://doi.org/10.1053/j.seminoncol.2023.12.001
Publication Date
Rehm, H. L., Alaimo, J. T., Aradhya, S., Bayrak-Toydemir, P., Best, H., Brandon, R., Buchan, J. G., Chao, E. C., Chen, E., Clifford, J., Cohen, A. S. A., Conlin, L. K., Das, S., Davis, K. W., del Gaudio, D., Del Viso, F., DiVincenzo, C., Eisenberg, M., Guidugli, L., … Rehm, H. (2023). The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genetics in Medicine, 25(12), 100947. https://doi.org/10.1016/j.gim.2023.100947
Publication Date
Ma, S., Wang, C., Khan, A., Liu, L., Dalgleish, J., Kiryluk, K., He, Z., & Ionita-Laza, I. (2023). BIGKnock: fine-mapping gene-based associations via knockoff analysis of biobank-scale data. Genome Biology, 24(1). https://doi.org/10.1186/s13059-023-02864-6
Publication Date
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
Publication Date
Kolesnikova, M., Lima de Carvalho, J. R., Oh, J. K., Soucy, M., Demirkol, A., Kim, A. H., Tsang, S. H., & Breazzano, M. P. (2023). Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes. Investigative Opthalmology & Visual Science, 64(3), 23. https://doi.org/10.1167/iovs.64.3.23
Publication Date
Feng, Y.-C. A., Stanaway, I. B., Connolly, J. J., Denny, J. C., Luo, Y., Weng, C., Wei, W.-Q., Weiss, S. T., Karlson, E. W., & Smoller, J. W. (2022). Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC Genomics, 23(1). https://doi.org/10.1186/s12864-022-08600-x
Publication Date
Similuk, M. N., Yan, J., Ghosh, R., Oler, A. J., Franco, L. M., Setzer, M. R., Kamen, M., Jodarski, C., DiMaggio, T., Davis, J., Gore, R., Jamal, L., Borges, A., Gentile, N., Niemela, J., Lowe, C., Jevtich, K., Yu, Y., Hullfish, H., … Walkiewicz, M. A. (2022). Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. Journal of Allergy and Clinical Immunology, 150(4), 947–954. https://doi.org/10.1016/j.jaci.2022.06.009
Publication Date
Berger, S. M., Appelbaum, P. S., Siegel, K., Wynn, J., Saami, A. M., Brokamp, E., O’Connor, B. C., Hamid, R., Martin, D. M., & Chung, W. K. (2022). Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines. Genetics in Medicine, 24(9), 1878–1887. https://doi.org/10.1016/j.gim.2022.06.002
Publication Date
Newton, C. A., Oldham, J. M., Applegate, C., Carmichael, N., Powell, K., Dilling, D., Schmidt, S. L., Scholand, M. B., Armanios, M., Garcia, C. K., Kropski, J. A., & Talbert, J. (2022). The Role of Genetic Testing in Pulmonary Fibrosis. CHEST, 162(2), 394–405. https://doi.org/10.1016/j.chest.2022.03.023
Publication Date
Appelbaum, P. S., Burke, W., Parens, E., Zeevi, D. A., Arbour, L., Garrison, N. A., Bonham, V. L., & Chung, W. K. (2022). Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? The American Journal of Human Genetics, 109(6), 981–988. https://doi.org/10.1016/j.ajhg.2022.04.012
Publication Date
Burke, W., Parens, E., Chung, W. K., Berger, S. M., & Appelbaum, P. S. (2022). The Challenge of Genetic Variants of Uncertain Clinical Significance. Annals of Internal Medicine, 175(7), 994–1000. https://doi.org/10.7326/m21-4109
Publication Date
Lippa, N., Bier, L., Revah-Politi, A., May, H., Kushary, S., Vena, N., Giordano, J. L., Rasouly, H. M., Cocchi, E., Sands, T. T., Wapner, R. J., Anyane-Yeboa, K., Gharavi, A. G., & Goldstein, D. B. (2022). Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. Genetics in Medicine, 24(4), 862–869. https://doi.org/10.1016/j.gim.2021.12.010
Publication Date
Glazer, A. M., Davogustto, G., Shaffer, C. M., Vanoye, C. G., Desai, R. R., Farber-Eger, E. H., Dikilitas, O., Shang, N., Pacheco, J. A., Yang, T., Muhammad, A., Mosley, J. D., Van Driest, S. L., Wells, Q. S., Shaffer, L. L., Kalash, O. R., Wada, Y., Bland, H. T., Yoneda, Z. T., … Roden, D. M. (2022). Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation, 145(12), 877–891. https://doi.org/10.1161/circulationaha.121.055562
Publication Date
Guerrini, C. J., Robinson, J. O., Bloss, C. C., Bash Brooks, W., Fullerton, S. M., Kirkpatrick, B., Lee, S. S.-J., Majumder, M., Pereira, S., Schuman, O., & McGuire, A. L. (2022). Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services. The American Journal of Human Genetics, 109(3), 486–497. https://doi.org/10.1016/j.ajhg.2022.01.013
Publication Date
Sheidley, B. R., Malinowski, J., Bergner, A. L., Bier, L., Gloss, D. S., Mu, W., Mulhern, M. M., Partack, E. J., & Poduri, A. (2021). Genetic testing for the epilepsies: A systematic review. Epilepsia, 63(2), 375–387. Portico. https://doi.org/10.1111/epi.17141
Publication Date
Martucci, J., Prado, Y., Rope, A. F., Weinmann, S., White, L., Zepp, J., Henrikson, N. B., Feigelson, H. S., Hunter, J. E., & Lee, S. S.-J. (2022). An Examination of the Ethical and Legal Limits in Implementing “Traceback Testing” for Deceased Patients. Journal of Law, Medicine & Ethics, 50(4), 818–832. https://doi.org/10.1017/jme.2023.23
Publication Date