Institute for Genomic Medicine

Displaying 51 - 100 of 146CSV
Trujillo, S., Wetmore, J. B., Camarillo, I. A., Misiewicz, S., May, H., Choi, H., Siegel, K., Chung, W. K., Phelan, J. C., Yang, L. H., Leu, C., Bergner, A. L., & Ottman, R. (2023). Knowledge and beliefs about epilepsy genetics among Hispanic and non‐Hispanic patients. Epilepsia, 64(9), 2443–2453. Portico. https://doi.org/10.1111/epi.17701
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McLaren, P. J., Porreca, I., Iaconis, G., Mok, H. P., Mukhopadhyay, S., Karakoc, E., Cristinelli, S., Pomilla, C., Bartha, I., Thorball, C. W., Tough, R. H., Angelino, P., Kiar, C. S., Carstensen, T., Fatumo, S., Porter, T., Jarvis, I., Skarnes, W. C., Bassett, A., … Fellay, J. (2023). Africa-specific human genetic variation near CHD1L associates with HIV-1 load. Nature, 620(7976), 1025–1030. https://doi.org/10.1038/s41586-023-06370-4
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Columbia Affiliation
Peariso, K., Arya, R., Glauser, T., Abend, N. S., Barcia Aguilar, C., Amengual-Gual, M., Anderson, A., Appavu, B. L., Brenton, J. N., Carpenter, J., Chapman, K. E., Clark, J., Gaillard, W. D., Gaínza-Lein, M., Goldstein, J., Goodkin, H., Grinspan, Z., Guerriero, R. M., Horn, P. S., … Seltzer, L. (2023). Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children. Neurology, 101(5). https://doi.org/10.1212/wnl.0000000000207472
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Calame, D. G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., Kurolap, A., Henig, N. Z., Fatih, J. M., Herman, I., Du, H., Mitani, T., Becker, L., Rathkolb, B., Gerlini, R., Seisenberger, C., Marschall, S., Hunter, J. V., Gerard, A., … Lupski, J. R. (2023). Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. The American Journal of Human Genetics, 110(8), 1394–1413. https://doi.org/10.1016/j.ajhg.2023.06.013
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Kiryluk, K., Sanchez-Rodriguez, E., Zhou, X.-J., Zanoni, F., Liu, L., Mladkova, N., Khan, A., Marasa, M., Zhang, J. Y., Balderes, O., Sanna-Cherchi, S., Bomback, A. S., Canetta, P. A., Appel, G. B., Radhakrishnan, J., Trimarchi, H., Sprangers, B., Cattran, D. C., Reich, H., … Gharavi, A. G. (2023). Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature Genetics, 55(7), 1091–1105. https://doi.org/10.1038/s41588-023-01422-x
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Evans, S. W., Shi, D.-Q., Chavarha, M., Plitt, M. H., Taxidis, J., Madruga, B., Fan, J. L., Hwang, F.-J., van Keulen, S. C., Suomivuori, C.-M., Pang, M. M., Su, S., Lee, S., Hao, Y. A., Zhang, G., Jiang, D., Pradhan, L., Roth, R. H., Liu, Y., … Lin, M. Z. (2023). A positively tuned voltage indicator for extended electrical recordings in the brain. Nature Methods, 20(7), 1104–1113. https://doi.org/10.1038/s41592-023-01913-z
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Rogerson, D., Alkelai, A., Giordano, J., Pantrangi, M., Hsiao, M., Nhan‐Chang, C., Motelow, J. E., Aggarwal, V., Goldstein, D., Wapner, R., & Shawber, C. J. (2023). Investigation into the genetics of fetal congenital lymphatic anomalies. Prenatal Diagnosis, 43(6), 703–716. Portico. https://doi.org/10.1002/pd.6345
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Chung, J., Sun, X., Schmidt, M. A., Song, Y. E., Grunin, M., Palmer, E. L., Bush, W. S., Naj, A. C., Rajabli, F., Hamilton‐Nelson, K. L., Zhang, X., Leung, Y. Y., Wang, L., Mayeux, R., Schellenberg, G. D., Vance, M. A., Haines, J. L., Farrer, L. A., Kunkle, B. W., & Martin, E. R. (2023). Variants near X‐Chromosome Genes NLGN4X and PTCHD1 are Significantly Associated with Alzheimer’s Disease Risk. Alzheimer’s & Dementia, 19(S1). Portico. https://doi.org/10.1002/alz.067117
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Columbia Affiliation
McGroder, C. F., Zhang, D., Choudhury, M., Podolanczuk, A. J., Lederer, D., Hoffman, E. A., Saqi, A., Capaccione, K. M., D’Souza, B., Salvatore, M. M., & Garcia, C. K. (2023). Radiographic Lung Abnormalities in First-Degree Relatives of Patients With Different Subtypes of Pulmonary Fibrosis. CHEST, 163(6), 1471–1475. https://doi.org/10.1016/j.chest.2023.01.012
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Ali, M., Mafimoghaddam, S., Sung, Y. J., Wang, F., Fernandez, M. V., Archer, D. B., Hohman, T. J., Satizabal, C. L., Yang, Q., Beiser, A. S., Wang, R., Gordon, B. A., Benzinger, T. L. S., Xiong, C., Morris, J. C., Bateman, R. J., Karch, C. M., McDade, E., Goate, A., … Cruchaga, C. (2023). Using amyloid PET as a biomarker to detect progression of early Alzheimer disease. Alzheimer’s & Dementia, 19(S3). Portico. https://doi.org/10.1002/alz.066189
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Columbia Affiliation
Colombo, S., Reddy, H. P., Petri, S., Williams, D. J., Shalomov, B., Dhindsa, R. S., Gelfman, S., Krizay, D., Bera, A. K., Yang, M., Peng, Y., Makinson, C. D., Boland, M. J., Frankel, W. N., Goldstein, D. B., & Dascal, N. (2023). Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor. Frontiers in Cellular Neuroscience, 17. https://doi.org/10.3389/fncel.2023.1175895
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McGroder, C. F., Hansen, S., Hinckley Stukovsky, K., Zhang, D., Nath, P. H., Salvatore, M. M., Sonavane, S. K., Terry, N., Stowell, J. T., D’Souza, B. M., Leb, J. S., Dumeer, S., Aziz, M. U., Batra, K., Hoffman, E. A., Bernstein, E. J., Kim, J. S., Podolanczuk, A. J., Rotter, J. I., … Garcia, C. K. (2023). Incidence of interstitial lung abnormalities: the MESA Lung Study. European Respiratory Journal, 61(6), 2201950. https://doi.org/10.1183/13993003.01950-2022
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Rasouly, H. M., Balderes, O., Marasa, M., Fernandez, H., Lipton, M., Lin, F., Gharavi, A. G., & Sabatello, M. (2023). The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists. Genetics in Medicine, 25(5), 100814. https://doi.org/10.1016/j.gim.2023.100814
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Elliott, M. D., Marasa, M., Cocchi, E., Vena, N., Zhang, J. Y., Khan, A., Krishna Murthy, S., Bheda, S., Milo Rasouly, H., Povysil, G., Kiryluk, K., & Gharavi, A. G. (2023). Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes. Journal of the American Society of Nephrology, 34(5), 909–919. https://doi.org/10.1681/asn.0000000000000094
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Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butler, K. M., Schreiber, A., Alsadah, A., Neilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., McCann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, Á., … Escayg, A. (2022). ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain, 146(4), 1357–1372. https://doi.org/10.1093/brain/awac330
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Columbia Affiliation
Smith, L., Malinowski, J., Ceulemans, S., Peck, K., Walton, N., Sheidley, B. R., & Lippa, N. (2022). Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors. Journal of Genetic Counseling, 32(2), 266–280. Portico. https://doi.org/10.1002/jgc4.1646
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Columbia Affiliation
Blout Zawatsky, C. L., Bick, D., Bier, L., Funke, B., Lebo, M., Lewis, K. L., Orlova, E., Qian, E., Ryan, L., Schwartz, M. L. B., & Soper, E. R. (2023). Elective genomic testing: Practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling, 32(2), 281–299. Portico. https://doi.org/10.1002/jgc4.1654
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Columbia Affiliation
Spillmann, R. C., Tan, Q. K.-G., Reuter, C., Schoch, K., Kohler, J., Bonner, D., Zastrow, D., Alkelai, A., Baugh, E., Cope, H., Marwaha, S., Wheeler, M. T., Bernstein, J. A., Shashi, V., Acosta, M. T., Adam, M., Adams, D. R., Alvey, J., Amendola, L., … Zuchner, S. (2023). A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genetics in Medicine, 25(4), 100353. https://doi.org/10.1016/j.gim.2022.12.001
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Columbia Affiliation
Verbitsky, M., Krishnamurthy, S., Krithivasan, P., Hughes, D., Khan, A., Marasà, M., Vena, N., Khosla, P., Zhang, J., Lim, T. Y., Glessner, J. T., Weng, C., Shang, N., Shen, Y., Hripcsak, G., Hakonarson, H., Ionita-Laza, I., Levy, B., Kenny, E. E., … Gharavi, A. G. (2022). Genomic Disorders in CKD across the Lifespan. Journal of the American Society of Nephrology, 34(4), 607–618. https://doi.org/10.1681/asn.2022060725
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Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., … Stessman, H. A. F. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10). https://doi.org/10.1126/sciadv.ade1463
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Estrella, E., Rockowitz, S., Thorne, M., Smith, P., Petit, J., Zehnder, V., Yu, R. N., Bauer, S., Berde, C., Agrawal, P. B., Beggs, A. H., Gharavi, A. G., Kunkel, L., & Brownstein, C. A. (2022). Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced Genetics, 4(1). Portico. https://doi.org/10.1002/ggn2.202200013
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Dahal, P., Rauhala, O. J., Khodagholy, D., & Gelinas, J. N. (2023). Hippocampal–cortical coupling differentiates long-term memory processes. Proceedings of the National Academy of Sciences, 120(7). https://doi.org/10.1073/pnas.2207909120
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Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., … Carvill, G. L. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology, 100(6). https://doi.org/10.1212/wnl.0000000000201492
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Alkelai, A., Greenbaum, L., Shohat, S., Povysil, G., Malakar, A., Ren, Z., Motelow, J. E., Schechter, T., Draiman, B., Chitrit-Raveh, E., Hughes, D., Jobanputra, V., Shifman, S., Goldstein, D. B., & Kohn, Y. (2023). Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing. Schizophrenia Research, 252, 138–145. https://doi.org/10.1016/j.schres.2022.12.033
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Baker, B. H., Rafikian, E. E., Hamblin, P. B., Strait, M. D., Yang, M., & Pearson, B. L. (2023). Sex-specific neurobehavioral and prefrontal cortex gene expression alterations following developmental acetaminophen exposure in mice. Neurobiology of Disease, 177, 105970. https://doi.org/10.1016/j.nbd.2022.105970
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Elliott, M. D., Rasouly, H. M., & Gharavi, A. G. (2023). Genetics of Kidney Disease: The Unexpected Role of Rare Disorders. Annual Review of Medicine, 74(1), 353–367. https://doi.org/10.1146/annurev-med-042921-101813
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Ressler, A. K., Sampaio, G. L. A., Dugger, S. A., Sapir, T., Krizay, D., Boland, M. J., Reiner, O., & Goldstein, D. B. (2023). Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice. IScience, 26(1), 105797. https://doi.org/10.1016/j.isci.2022.105797
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Farek, J., Hughes, D., Salerno, W., Zhu, Y., Pisupati, A., Mansfield, A., Krasheninina, O., English, A. C., Metcalf, G., Boerwinkle, E., Muzny, D. M., Gibbs, R., Khan, Z., & Sedlazeck, F. J. (2022). xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. GigaScience, 12. https://doi.org/10.1093/gigascience/giac125
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Columbia Affiliation
Perucca, P., Stanley, K., Harris, N., McIntosh, A. M., Asadi‐Pooya, A. A., Mikati, M. A., Andrade, D. M., Dugan, P., Depondt, C., Choi, H., Heinzen, E. L., Cavalleri, G. L., Buono, R. J., Devinsky, O., Sperling, M. R., Berkovic, S. F., Delanty, N., Goldstein, D. B., & O’Brien, T. J. (2023). Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy. Annals of Neurology, 93(4), 752–761. Portico. https://doi.org/10.1002/ana.26581
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Teng, S., Zhen, F., Wang, L., Schalchli, J. C., Simko, J., Chen, X., Jin, H., Makinson, C. D., & Peng, Y. (2022). Control of non-REM sleep by ventrolateral medulla glutamatergic neurons projecting to the preoptic area. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-32461-3
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Šušnjar, U., Škrabar, N., Brown, A.-L., Abbassi, Y., Phatnani, H., Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., … Buratti, E. (2022). Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03253-8
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Khodagholy, D., Ferrero, J. J., Park, J., Zhao, Z., & Gelinas, J. N. (2022). Large-scale, closed-loop interrogation of neural circuits underlying cognition. Trends in Neurosciences, 45(12), 968–983. https://doi.org/10.1016/j.tins.2022.10.003
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Kanaya, A., Yang, M., Emala, C., & Mikami, M. (2022). Chronic allergic lung inflammation negatively influences neurobehavioral outcomes in mice. Journal of Neuroinflammation, 19(1). https://doi.org/10.1186/s12974-022-02575-y
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Erjavec, S. O., Gelfman, S., Abdelaziz, A. R., Lee, E. Y., Monga, I., Alkelai, A., Ionita-Laza, I., Petukhova, L., & Christiano, A. M. (2022). Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-28343-3
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Zhang, D., Newton, C. A., Wang, B., Povysil, G., Noth, I., Martinez, F. J., Raghu, G., Goldstein, D., & Garcia, C. K. (2022). Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis. European Respiratory Journal, 60(6), 2200577. https://doi.org/10.1183/13993003.00577-2022
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Giangreco, N. P., Lebreton, G., Restaino, S., Farr, M., Zorn, E., Colombo, P. C., Patel, J., Soni, R. K., Leprince, P., Kobashigawa, J., Tatonetti, N. P., & Fine, B. M. (2022). Alterations in the kallikrein-kinin system predict death after heart transplant. Scientific Reports, 12(1). https://doi.org/10.1038/s41598-022-18573-2
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Papa, A., Zakharov, S. I., Katchman, A. N., Kushner, J. S., Chen, B., Yang, L., Liu, G., Jimenez, A. S., Eisert, R. J., Bradshaw, G. A., Dun, W., Ali, S. R., Rodriques, A., Zhou, K., Topkara, V., Yang, M., Morrow, J. P., Tsai, E. J., Karlin, A., … Marx, S. O. (2022). Rad regulation of CaV1.2 channels controls cardiac fight-or-flight response. Nature Cardiovascular Research, 1(11), 1022–1038. https://doi.org/10.1038/s44161-022-00157-y
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Butler-Laporte, G., Povysil, G., Kosmicki, J. A., Cirulli, E. T., Drivas, T., Furini, S., Saad, C., Schmidt, A., Olszewski, P., Korotko, U., Quinodoz, M., Çelik, E., Kundu, K., Walter, K., Jung, J., Stockwell, A. D., Sloofman, L. G., Jordan, D. M., Thompson, R. C., … Richards, J. B. (2022). Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLOS Genetics, 18(11), e1010367. https://doi.org/10.1371/journal.pgen.1010367
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Motelow, J. E., Lippa, N. C., Hostyk, J., Feldman, E., Nelligan, M., Ren, Z., Alkelai, A., Milner, J. D., Gharavi, A. G., Tang, Y., Goldstein, D. B., & Kernie, S. G. (2022). Risk Variants in the Exomes of Children With Critical Illness. JAMA Network Open, 5(10), e2239122. https://doi.org/10.1001/jamanetworkopen.2022.39122
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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
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Gill, B. J. A., Khan, F. A., Goldberg, A. R., Merricks, E. M., Wu, X., Sosunov, A. A., Sudhakar, T. D., Dovas, A., Lado, W., Michalak, A. J., Teoh, J. J., Liou, J., Frankel, W. N., McKhann, G. M., Canoll, P., & Schevon, C. A. (2022). Single unit analysis and wide-field imaging reveal alterations in excitatory and inhibitory neurons in glioma. Brain, 145(10), 3666–3680. https://doi.org/10.1093/brain/awac168
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Jain, N. G., Ahram, D. F., Marasa, M., Rehman, A. U., May, H. J., Zacharoulis, S., Revah-Politi, A., Florido, M. E., Whittemore, G. B., Aggarwal, V. S., Hargus, G., Anyane-Yeboa, K., D’Agati, V. D., Lin, F., Jobanputra, V., & Sanna-Cherchi, S. (2022). Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies. Kidney International Reports, 7(10), 2312–2316. https://doi.org/10.1016/j.ekir.2022.07.174
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Li, M., Zhou, H., Teng, S., & Yang, G. (2022). Activation of VIP interneurons in the prefrontal cortex ameliorates neuropathic pain aversiveness. Cell Reports, 40(11), 111333. https://doi.org/10.1016/j.celrep.2022.111333
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Hassan, A. R., Zhao, Z., Ferrero, J. J., Cea, C., Jastrzebska‐Perfect, P., Myers, J., Asman, P., Ince, N. F., McKhann, G., Viswanathan, A., Sheth, S. A., Khodagholy, D., & Gelinas, J. N. (2022). Translational Organic Neural Interface Devices at Single Neuron Resolution. Advanced Science, 9(27). Portico. https://doi.org/10.1002/advs.202202306
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