Institute for Genomic Medicine

Displaying 101 - 146 of 146CSV
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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Manzali, S. B., Yu, E., Ravona-Springer, R., Livny, A., Golan, S., Ouyang, Y., Lesman-Segev, O., Liu, L., Ganmore, I., Alkelai, A., Gan-Or, Z., Lin, H.-M., Heymann, A., Schnaider Beeri, M., & Greenbaum, L. (2022). Alzheimer’s Disease Polygenic Risk Score Is Not Associated With Cognitive Decline Among Older Adults With Type 2 Diabetes. Frontiers in Aging Neuroscience, 14. https://doi.org/10.3389/fnagi.2022.853695
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Columbia Affiliation
Lai, D., Gade, M., Yang, E., Koh, H. Y., Lu, J., Walley, N. M., Buckley, A. F., Sands, T. T., Akman, C. I., Mikati, M. A., McKhann, G. M., Goldman, J. E., Canoll, P., Alexander, A. L., Park, K. L., Von Allmen, G. K., Rodziyevska, O., Bhattacharjee, M. B., Lidov, H. G. W., … Heinzen, E. L. (2022). Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain, 145(8), 2704–2720. https://doi.org/10.1093/brain/awac117
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Ramirez, A. H., Sulieman, L., Schlueter, D. J., Halvorson, A., Qian, J., Ratsimbazafy, F., Loperena, R., Mayo, K., Basford, M., Deflaux, N., Muthuraman, K. N., Natarajan, K., Kho, A., Xu, H., Wilkins, C., Anton-Culver, H., Boerwinkle, E., Cicek, M., Clark, C. R., … Zwick, M. E. (2022). The All of Us Research Program: Data quality, utility, and diversity. Patterns, 3(8), 100570. https://doi.org/10.1016/j.patter.2022.100570
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van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., … Santen, G. W. E. (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine, 24(8), 1753–1760. https://doi.org/10.1016/j.gim.2022.04.010
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Sapir, T., Kshirsagar, A., Gorelik, A., Olender, T., Porat, Z., Scheffer, I. E., Goldstein, D. B., Devinsky, O., & Reiner, O. (2022). Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31752-z
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Columbia Affiliation
Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., … Weckhuysen, S. (2022). KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine, 81, 104130. https://doi.org/10.1016/j.ebiom.2022.104130
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Zhang, D., Povysil, G., Kobeissy, P. H., Li, Q., Wang, B., Amelotte, M., Jaouadi, H., Newton, C. A., Maher, T. M., Molyneaux, P. L., Noth, I., Martinez, F. J., Raghu, G., Todd, J. L., Palmer, S. M., Haefliger, C., Platt, A., Petrovski, S., Garcia, J. A., … Garcia, C. K. (2022). Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis. American Journal of Respiratory and Critical Care Medicine, 206(1), 56–69. https://doi.org/10.1164/rccm.202110-2439oc
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Wu, X., Sosunov, A. A., Lado, W., Teoh, J. J., Ham, A., Li, H., Al-Dalahmah, O., Gill, B. J. A., Arancio, O., Schevon, C. A., Frankel, W. N., McKhann, G. M., Sulzer, D., Goldman, J. E., & Tang, G. (2022). Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex. Cell Reports, 40(3), 111085. https://doi.org/10.1016/j.celrep.2022.111085
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Oliver, K. L., Ellis, C. A., Scheffer, I. E., Ganesan, S., Leu, C., Sadleir, L. G., Heinzen, E. L., Mefford, H. C., Bass, A. J., Curtis, S. W., Harris, R. V., Whiteman, D. C., Helbig, I., Ottman, R., Epstein, M. P., Bahlo, M., & Berkovic, S. F. (2022). Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. EBioMedicine, 81, 104079. https://doi.org/10.1016/j.ebiom.2022.104079
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Eissman, J. M., Dumitrescu, L., Mahoney, E. R., Smith, A. N., Mukherjee, S., Lee, M. L., Scollard, P., Choi, S. E., Bush, W. S., Engelman, C. D., Lu, Q., Fardo, D. W., Trittschuh, E. H., Mez, J., Kaczorowski, C. C., Hernandez Saucedo, H., Widaman, K. F., Buckley, R. F., Properzi, M. J., … Hohman, T. J. (2022). Sex differences in the genetic architecture of cognitive resilience to Alzheimer’s disease. Brain, 145(7), 2541–2554. https://doi.org/10.1093/brain/awac177
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Pérez-Torres, E. J., Utkina-Sosunova, I., Mishra, V., Barbuti, P., De Planell-Saguer, M., Dermentzaki, G., Geiger, H., Basile, A. O., Robine, N., Fagegaltier, D., Politi, K. A., Rinchetti, P., Jackson-Lewis, V., Harms, M., Phatnani, H., Lotti, F., Przedborski, S., Phatnani, H., … Traynor, B. J. (2022). Retromer dysfunction in amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences, 119(26). https://doi.org/10.1073/pnas.2118755119
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Silverå Ejneby, M., Jakešová, M., Ferrero, J. J., Migliaccio, L., Sahalianov, I., Zhao, Z., Berggren, M., Khodagholy, D., Đerek, V., Gelinas, J. N., & Głowacki, E. D. (2021). Chronic electrical stimulation of peripheral nerves via deep-red light transduced by an implanted organic photocapacitor. Nature Biomedical Engineering, 6(6), 741–753. https://doi.org/10.1038/s41551-021-00817-7
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Zhang, A., Sokolova, I., Domissy, A., Davis, J., Rao, L., Hana Utami, K., Wang, Y., Hagerman, R. J., Pouladi, M. A., Sanna, P., Boland, M. J., & Loring, J. F. (2022). Maturation Delay of Human GABAergic Neurogenesis in Fragile X Syndrome Pluripotent Stem Cells. Stem Cells Translational Medicine, 11(6), 613–629. https://doi.org/10.1093/stcltm/szac022
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Köttgen, A., Cornec-Le Gall, E., Halbritter, J., Kiryluk, K., Mallett, A. J., Parekh, R. S., Rasouly, H. M., Sampson, M. G., Tin, A., Antignac, C., Ars, E., Bergmann, C., Bleyer, A. J., Bockenhauer, D., Devuyst, O., Florez, J. C., Fowler, K. J., Franceschini, N., Fukagawa, M., … Gharavi, A. G. (2022). Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 101(6), 1126–1141. https://doi.org/10.1016/j.kint.2022.03.019
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Campbell, C., McCormack, M., Patel, S., Stapleton, C., Bobbili, D., Krause, R., Depondt, C., Sills, G. J., Koeleman, B. P., Striano, P., Zara, F., Sander, J. W., Lerche, H., Kunz, W. S., Stefansson, K., Stefansson, H., Doherty, C. P., Heinzen, E. L., Scheffer, I. E., … Cavalleri, G. L. (2022). A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. Epilepsia, 63(6), 1563–1570. Portico. https://doi.org/10.1111/epi.17228
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Columbia Affiliation
Hayeck, T. J., Stong, N., Baugh, E., Dhindsa, R., Turner, T. N., Malakar, A., Mosbruger, T. L., Shaw, G. T.-W., Duan, Y., Ionita-Laza, I., Goldstein, D., & Allen, A. S. (2022). Ancestry adjustment improves genome-wide estimates of regional intolerance. Genetics. https://doi.org/10.1093/genetics/iyac050
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White, I. R., Kleinstein, S. E., Praet, C., Chamberlain, C., McHale, D., Maia, J. M., Xie, P., Goldstein, D. B., Urban, T. J., & Shea, P. R. (2022). A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population. PLOS ONE, 17(4), e0261165. https://doi.org/10.1371/journal.pone.0261165
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Columbia Affiliation
Barish, S., Senturk, M., Schoch, K., Minogue, A. L., Lopergolo, D., Fallerini, C., Harland, J., Seemann, J. H., Stong, N., Kranz, P. G., Kansagra, S., Mikati, M. A., Jasien, J., El-Dairi, M., Galluzzi, P., Acosta, M. T., Adam, M., Adams, D. R., … Bellen, H. J. (2022). The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics, 31(17), 2934–2950. https://doi.org/10.1093/hmg/ddac085
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Columbia Affiliation
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
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Ritter, A. L., Gold, J., Hayashi, H., Ackermann, A. M., Hanke, S., Skraban, C., Cuddapah, S., Bhoj, E., Li, D., Kuroda, Y., Wen, J., Takeda, R., Bibb, A., El Chehadeh, S., Piton, A., Ohl, J., Kukolich, M. K., Nagasaki, K., Kato, K., … Izumi, K. (2022). Expanding the phenotypic spectrum of ARCN1-related syndrome. Genetics in Medicine, 24(6), 1227–1237. https://doi.org/10.1016/j.gim.2022.02.005
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Columbia Affiliation
Park, J., Foox, J., Hether, T., Danko, D. C., Warren, S., Kim, Y., Reeves, J., Butler, D. J., Mozsary, C., Rosiene, J., Shaiber, A., Afshin, E. E., MacKay, M., Rendeiro, A. F., Bram, Y., Chandar, V., Geiger, H., Craney, A., Velu, P., … Mason, C. E. (2022). System-wide transcriptome damage and tissue identity loss in COVID-19 patients. Cell Reports Medicine, 3(2), 100522. https://doi.org/10.1016/j.xcrm.2022.100522
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Brown, A.-L., Wilkins, O. G., Keuss, M. J., Hill, S. E., Zanovello, M., Lee, W. C., Bampton, A., Lee, F. C. Y., Masino, L., Qi, Y. A., Bryce-Smith, S., Gatt, A., Hallegger, M., Fagegaltier, D., Phatnani, H., Phatnani, H., Kwan, J., Sareen, D., … Fratta, P. (2022). TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603(7899), 131–137. https://doi.org/10.1038/s41586-022-04436-3
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Alkelai, A., Greenbaum, L., Docherty, A. R., Shabalin, A. A., Povysil, G., Malakar, A., Hughes, D., Delaney, S. L., Peabody, E. P., McNamara, J., Gelfman, S., Baugh, E. H., Zoghbi, A. W., Harms, M. B., Hwang, H.-S., Grossman-Jonish, A., Aggarwal, V., Heinzen, E. L., Jobanputra, V., … Goldstein, D. B. (2021). The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders. Molecular Psychiatry, 27(3), 1435–1447. https://doi.org/10.1038/s41380-021-01383-9
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Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., & May, P. (2022). Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study. Epilepsia, 63(3), 723–735. Portico. https://doi.org/10.1111/epi.17166
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Green, T. E., Motelow, J. E., Bennett, M. F., Ye, Z., Bennett, C. A., Griffin, N. G., Damiano, J. A., Leventer, R. J., Freeman, J. L., Harvey, A. S., Lockhart, P. J., Sadleir, L. G., Boys, A., Scheffer, I. E., Major, H., Darbro, B. W., Bahlo, M., Goldstein, D. B., Kerrigan, J. F., … Hildebrand, M. S. (2022). Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Human Molecular Genetics, 31(14), 2307–2316. https://doi.org/10.1093/hmg/ddab366
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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
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Huffman, J. E., Butler-Laporte, G., Khan, A., Pairo-Castineira, E., Drivas, T. G., Peloso, G. M., Nakanishi, T., Ganna, A., Verma, A., Baillie, J. K., Kiryluk, K., Richards, J. B., & Zeberg, H. (2022). Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19. Nature Genetics, 54(2), 125–127. https://doi.org/10.1038/s41588-021-00996-8
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Kumble, S., Levy, A. M., Punetha, J., Gao, H., Ah Mew, N., Anyane‐Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos‐Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denommé‐Pichon, A., Emrick, L., Faivre, L., Fasano, M. B., … Tümer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human Mutation, 43(2), 266–282. Portico. https://doi.org/10.1002/humu.24308
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Yao, D. R., Yu, H., Rauhala, O. J., Cea, C., Zhao, Z., Gelinas, J. N., & Khodagholy, D. (2022). Anisotropic Ion Conducting Particulate Composites for Bioelectronics. Advanced Science, 9(9). Portico. https://doi.org/10.1002/advs.202104404
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Küry, S., Ebstein, F., Mollé, A., Besnard, T., Lee, M.-K., Vignard, V., Hery, T., Nizon, M., Mancini, G. M. S., Giltay, J. C., Cogné, B., McWalter, K., Deb, W., Mor-Shaked, H., Li, H., Schnur, R. E., Wentzensen, I. M., Denommé-Pichon, A.-S., Fourgeux, C., … Isidor, B. (2022). Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. The American Journal of Human Genetics, 109(2), 361–372. https://doi.org/10.1016/j.ajhg.2021.12.011
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Columbia Affiliation
Mellis, R., Eberhardt, R., Hamilton, S., McMullan, D., Kilby, M., Maher, E., Hurles, M., Giordano, J., Aggarwal, V., Goldstein, D., Wapner, R., & Chitty, L. (2021). Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? BJOG: An International Journal of Obstetrics & Gynaecology, 129(1), 52–61. Portico. https://doi.org/10.1111/1471-0528.16869
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Cohen, A., Hostyk, J., Baugh, E. H., Buchovecky, C. M., Aggarwal, V. S., Recker, R. R., Lappe, J. M., Dempster, D. W., Zhou, H., Kamanda-Kosseh, M., Bucovsky, M., Stubby, J., Goldstein, D. B., & Shane, E. (2022). Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis. Bone, 154, 116253. https://doi.org/10.1016/j.bone.2021.116253
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Stanley, K., Hostyk, J., Tran, L., Amengual‐Gual, M., Dugan, P., Clark, J., Choi, H., Tchapyjnikov, D., Perucca, P., Fernandes, C., Andrade, D., Devinsky, O., Cavalleri, G. L., Depondt, C., Sen, A., O’Brien, T., Heinzen, E., Loddenkemper, T., … Delanty, N. (2021). Genomic analysis of “microphenotypes” in epilepsy. American Journal of Medical Genetics Part A, 188(1), 138–146. Portico. https://doi.org/10.1002/ajmg.a.62505
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Halvorsen, M., Gould, L., Wang, X., Grant, G., Moya, R., Rabin, R., Ackerman, M. J., Tester, D. J., Lin, P. T., Pappas, J. G., Maurano, M. T., Goldstein, D. B., Tsien, R. W., & Devinsky, O. (2021). De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca 2+ regulation. Proceedings of the National Academy of Sciences, 118(52). https://doi.org/10.1073/pnas.2115140118
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Zoghbi, A. W., Dhindsa, R. S., Goldberg, T. E., Mehralizade, A., Motelow, J. E., Wang, X., Alkelai, A., Harms, M. B., Lieberman, J. A., Markx, S., & Goldstein, D. B. (2021). High-impact rare genetic variants in severe schizophrenia. Proceedings of the National Academy of Sciences, 118(51). https://doi.org/10.1073/pnas.2112560118
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McGroder, C. F., Zhang, D., Choudhury, M. A., Salvatore, M. M., D'Souza, B. M., Hoffman, E. A., Wei, Y., Baldwin, M. R., & Garcia, C. K. (2021). Pulmonary fibrosis 4 months after COVID-19 is associated with severity of illness and blood leucocyte telomere length. Thorax, 76(12), 1242–1245. https://doi.org/10.1136/thoraxjnl-2021-217031

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Kushary, S. T., Revah‐Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti‐Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C. R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N. C., Mansukhani, M., … Anyane Yeboa, K. (2021). ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. American Journal of Medical Genetics Part A, 185(12), 3740–3753. Portico. https://doi.org/10.1002/ajmg.a.62445
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May, H. J., Fasheun, J. A., Bain, J. M., Baugh, E. H., Bier, L. E., Revah-Politi, A., New York Presbyterian Hospital/Columbia University Irving Medical Center Genomics Team, Roye, D. P., Jr, Goldstein, D. B., & Carmel, J. B. (2021). Genetic testing in individuals with cerebral palsy. Developmental medicine and child neurology, 63(12), 1448–1455. https://doi.org/10.1111/dmcn.14948

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Nickols, N. G., Goetz, M. B., Graber, C. J., Bhattacharya, D., Soo Hoo, G., Might, M., Goldstein, D. B., Wang, X., Ramoni, R., Myrie, K., Tran, S., Ghayouri, L., Tsai, S., Geelhoed, M., Makarov, D., Becker, D. J., Tsay, J.-C., Diamond, M., George, A., … Rettig, M. B. (2021). Hormonal intervention for the treatment of veterans with COVID-19 requiring hospitalization (HITCH): a multicenter, phase 2 randomized controlled trial of best supportive care vs best supportive care plus degarelix: study protocol for a randomized controlled trial. Trials, 22(1). https://doi.org/10.1186/s13063-021-05389-0
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Columbia Affiliation
Yu, T.-S., Tensaouti, Y., Stephanz, E. P., Chintamen, S., Rafikian, E. E., Yang, M., & Kernie, S. G. (2021). Astrocytic ApoE underlies maturation of hippocampal neurons and cognitive recovery after traumatic brain injury in mice. Communications Biology, 4(1). https://doi.org/10.1038/s42003-021-02841-4
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Elleman, A. V., Devienne, G., Makinson, C. D., Haynes, A. L., Huguenard, J. R., & Du Bois, J. (2021). Precise spatiotemporal control of voltage-gated sodium channels by photocaged saxitoxin. Nature Communications, 12(1). https://doi.org/10.1038/s41467-021-24392-2
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Koleck, T. A., Topaz, M., Tatonetti, N. P., George, M., Miaskowski, C., Smaldone, A., & Bakken, S. (2021). Characterizing shared and distinct symptom clusters in common chronic conditions through natural language processing of nursing notes. Research in Nursing & Health, 44(6), 906–919. Portico. https://doi.org/10.1002/nur.22190
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