Institute for Genomic Medicine

Displaying 1 - 50 of 146CSV
Phillips, J. M., Dumitrescu, L. C., Archer, D. B., Regelson, A. N., Mukherjee, S., Lee, M. L., Choi, S.-E., Scollard, P., Trittschuh, E. H., Kukull, W. A., Biber, S., Mez, J., Mahoney, E. R., Clifton, M., Libby, J. B., Walters, S., Bush, W. S., Engelman, C. D., Lu, Q., … Hohman, T. J. (2025). Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer’s disease. Brain. https://doi.org/10.1093/brain/awaf106
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Mitchell, J., Camacho, N., Shea, P., Stopsack, K. H., Joseph, V., Burren, O. S., Dhindsa, R. S., Nag, A., Berchuck, J. E., O’Neill, A., Abbasi, A., Zoghbi, A. W., Alegre-Díaz, J., Kuri-Morales, P., Berumen, J., Tapia-Conyer, R., Emberson, J., Torres, J. M., Collins, R., … Fabre, M. A. (2025). Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56944-1
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Zhi, X., Wu, F., Qian, J., Ochiai, Y., Lian, G., Malagola, E., Zheng, B., Tu, R., Zeng, Y., Kobayashi, H., Xia, Z., Wang, R., Peng, Y., Shi, Q., Chen, D., Ryeom, S. W., & Wang, T. C. (2025). Nociceptive neurons promote gastric tumour progression via a CGRP–RAMP1 axis. Nature. https://doi.org/10.1038/s41586-025-08591-1
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Dharmadhikari, A. V., Abad, M. A., Khan, S., Maroofian, R., Sands, T. T., Ullah, F., Samejima, I., Shen, Y., Wear, M. A., Moore, K. E., Kondakova, E., Mitina, N., Schaub, T., Lee, G. K., Umandap, C. H., Berger, S. M., Iglesias, A. D., Popp, B., Abou Jamra, R., … Liao, J. (2025). RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56876-w
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Szenker-Ravi, E., Ott, T., Yusof, A., Chopra, M., Khatoo, M., Pak, B., Xuan Goh, W., Beckers, A., Brady, A. F., Ewans, L. J., Djaziri, N., Almontashiri, N. A. M., Alghamdi, M. A., Alharby, E., Dasouki, M., Romo, L., Tan, W.-H., Maddirevula, S., Alkuraya, F. S., … Reversade, B. (2025). CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.006
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Hung, L. Y., Alves, N. D., Del Colle, A., Talati, A., Najjar, S. A., Bouchard, V., Gillet, V., Tong, Y., Huang, Z., Browning, K. N., Hua, J., Liu, Y., Woodruff, J. O., Juarez, D., Medina, M., Posner, J., Tonello, R., Yalcinkaya, N., Israelyan, N., … Margolis, K. G. (2024). Intestinal Epithelial Serotonin as a Novel Target for Treating Disorders of Gut-Brain Interaction and Mood. Gastroenterology. https://doi.org/10.1053/j.gastro.2024.11.012
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Lewis, S. A., Chopra, M., Cohen, J. S., Bain, J. M., Aravamuthan, B., Carmel, J. B., Fahey, M. C., Segel, R., Wintle, R. F., Zech, M., May, H., Haque, N., Fehlings, D., Srivastava, S., & Kruer, M. C. (2024). Clinical Actionability of Genetic Findings in Cerebral Palsy. JAMA Pediatrics. https://doi.org/10.1001/jamapediatrics.2024.5059
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Columbia Affiliation
Castellano, T., Wang, T. C., Nolan, E., Archer, D. B., Cody, K., Harrison, T. M., Wu, Y., Durant, A., Janve, V. A., Engelman, C. D., Jagust, W. J., Albert, M. S., Johnson, S. C., Resnick, S. M., Sperling, R. A., Bilgel, M., Saykin, A. J., Vardarajan, B. N., Mayeux, R., … Koran, M. E. I. (2024). Genetic and Sex Associations with Earlier Estimated Onset of Amyloid Positivity from over 4000 Harmonized Positron Emission Tomography Images. Alzheimer’s & Dementia, 20(S2). Portico. https://doi.org/10.1002/alz.092852
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Elhussein, A., Baymuradov, U., Phatnani, H., 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., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., … Gürsoy, G. (2024). A framework for sharing of clinical and genetic data for precision medicine applications. Nature Medicine, 30(12), 3578–3589. https://doi.org/10.1038/s41591-024-03239-5
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Contreras, A. G., Walters, S., Eissman, J. M., Archer, D. B., Regelson, A. N., Durant, A., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J., Bush, W. S., Kunkle, B. W., Naj, A. C., Gifford, K. A., Bilgel, M., Kuzma, A. B., Cuccaro, M. L., … Hohman, T. J. (2024). Cross‐Ancestry Meta‐Analysis of APOE‐ε4 Stratified GWAS of Longitudinal Cognitive Decline in Older Adults. Alzheimer’s & Dementia, 20(S1). Portico. https://doi.org/10.1002/alz.090846
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Phillips, J., Dumitrescu, L. C., Archer, D. B., Regelson, A. N., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Kukull, W. A., Biber, S. A., Mez, J., Mahoney, E. R., Clifton, M., Libby, J. B., Walters, S., Bush, W. S., Engelman, C. D., … Lu, Q. (2024). Leveraging a Novel Phenotype to Identify Complex Traits and Biological Pathways Associated with Resilience to Alzheimer’s Disease. Alzheimer’s & Dementia, 20(S8). Portico. https://doi.org/10.1002/alz.095693
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Chatila, Z. K., Mares, J., Vardarajan, B. N., Elyaman, W., Menon, V., & Bradshaw, E. M. (2024). Microglial Activation Alters Chromatin Accessibility of AD‐Associated Transcription Factors. Alzheimer’s & Dementia, 20(S1). Portico. https://doi.org/10.1002/alz.085990
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Wang, T., Archer, D. B., Ali, M., Wu, Y., Mormino, E., Buckley, R. F., Lee, A. J., Saykin, A. J., De Jager, P. L., Schneider, J. A., Bennett, D. A., Barnes, L. L., Vardarajan, B. N., Mayeux, R., Kunkle, B. W., Bush, W. S., Keene, C. D., Seshadri, S., … Sperling, R. A. (2024). Multimodal Genetic Analysis of Brain Amyloidosis. Alzheimer’s & Dementia, 20(S1). Portico. https://doi.org/10.1002/alz.090566
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Chen, F., Ahimaz, P., Nguyen, Q. M., Lewis, R., Chung, W. K., Ta, C. N., Szigety, K. M., Sheppard, S. E., Campbell, I. M., Wang, K., Weng, C., & Liu, C. (2024). Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. Npj Digital Medicine, 7(1). https://doi.org/10.1038/s41746-024-01331-1
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Shore, A. N., Li, K., Safari, M., Qunies, A. M., Spitznagel, B. D., Weaver, C. D., Emmitte, K., Frankel, W., & Weston, M. C. (2024). Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on somatostatin- and parvalbumin-expressing cortical GABAergic neurons. ELife, 13. CLOCKSS. https://doi.org/10.7554/elife.92915
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Marques, P., Moloney, P. B., Ji, C., Zulfiqar Ali, Q., Ramesh, A., Goldstein, D. B., Barboza, K., Chandran, I., Rong, M., Selvarajah, A., Qaiser, F., Lira, V. S. T., Valiante, T. A., Bazil, C. W., Choi, H., Devinsky, O., Depondt, C., O’Brien, T., Perucca, P., … Andrade, D. M. (2024). Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy? Epilepsy Research, 206, 107425. https://doi.org/10.1016/j.eplepsyres.2024.107425
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Elliott, M. D., Vena, N., Marasa, M., Cocchi, E., Bheda, S., Bogyo, K., Shang, N., Zanoni, F., Verbitsky, M., Wang, C., Kolupaeva, V., Jin, G., Sofer, M., Gras Pena, R., Canetta, P. A., Bomback, A. S., Guay-Woodford, L. M., Hou, J., Gillespie, B. W., … Gharavi, A. G. (2024). Increased risk of kidney failure in patients with genetic kidney disorders. Journal of Clinical Investigation, 134(17). https://doi.org/10.1172/jci178573
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Kneifati-Hayek, J. Z., Zachariah, T., Ahn, W., Khan, A., Kiryluk, K., Mohan, S., Weng, C., Gharavi, A. G., & Nestor, J. G. (2024). Bridging the Gap in Genomic Implementation: Identifying User Needs for Precision Nephrology. Kidney International Reports, 9(8), 2420–2431. https://doi.org/10.1016/j.ekir.2024.05.032
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Pottinger, T. D., Motelow, J. E., Povysil, G., Moreno, C. A. M., Ren, Z., Phatnani, H., Harms, M. B., Kwan, J., Sareen, D., Wang, H.-I., Broach, J. R., Simmons, Z., Arcila-Londono, X., Parrott, S., Lee, E. B., Parrott, S., Deerlin, V. M. V., Fraenkel, E., … Ostrow, L. W. (2024). Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC Genomics, 25(1). https://doi.org/10.1186/s12864-024-10538-1
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Martin, B. E., Sands, T., Bier, L., Bergner, A., Boehme, A. K., & Lippa, N. (2024). Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort. Journal of Medical Genetics, 61(7), 645–651. https://doi.org/10.1136/jmg-2023-109450
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Xu, Z. M., Gnouamozi, G. E., Rüeger, S., Shea, P. R., Buti, M., Chan, H. LY., Marcellin, P., Lawless, D., Naret, O., Zeller, M., Schneuing, A., Scheck, A., Junier, T., Moradpour, D., Podlaha, O., Suri, V., Gaggar, A., Subramanian, M., Correia, B., … Fellay, J. (2024). Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation. The American Journal of Human Genetics, 111(6), 1018–1034. https://doi.org/10.1016/j.ajhg.2024.04.013
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Columbia Affiliation
Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., & Mone, F. (2024). The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis. Prenatal Diagnosis, 44(6–7), 821–831. Portico. https://doi.org/10.1002/pd.6581
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Krishna Murthy, S. B., Yang, S., Bheda, S., Tomar, N., Li, H., Yaghoobi, A., Khan, A., Kiryluk, K., Motelow, J. E., Ren, N., Gharavi, A. G., & Milo Rasouly, H. (2024). Assisting the analysis of insertions and deletions using regional allele frequencies. Functional & Integrative Genomics, 24(3). https://doi.org/10.1007/s10142-024-01358-3
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Jiang, S., Sydney, E. J., Runyan, A. M., Serpe, R., Srikanth, M., Figueroa, H. Y., Yang, M., & Myeku, N. (2024). 5-HT4 receptor agonists treatment reduces tau pathology and behavioral deficit in the PS19 mouse model of tauopathy. Frontiers in Cellular Neuroscience, 18. https://doi.org/10.3389/fncel.2024.1338502
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Pan, X., Tao, A. M., Lu, S., Ma, M., Hannan, S. B., Slaugh, R., Drewes Williams, S., O’Grady, L., Kanca, O., Person, R., Carter, M. T., Platzer, K., Schnabel, F., Abou Jamra, R., Roberts, A. E., Newburger, J. W., Revah-Politi, A., Granadillo, J. L., Stegmann, A. P. A., … Bellen, H. J. (2024). De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. The American Journal of Human Genetics, 111(4), 742–760. https://doi.org/10.1016/j.ajhg.2024.02.007
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Stegmann, J. D., Kalanithy, J. C., Dworschak, G. C., Ishorst, N., Mingardo, E., Lopes, F. M., Ho, Y. M., Grote, P., Lindenberg, T. T., Yilmaz, Ö., Channab, K., Seltzsam, S., Shril, S., Hildebrandt, F., Boschann, F., Heinen, A., Jolly, A., Myers, K., … McBride, K. (2024). Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. Npj Genomic Medicine, 9(1). https://doi.org/10.1038/s41525-024-00398-9
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Kassabian, B., Levy, A. M., Gardella, E., Aledo‐Serrano, A., Ananth, A. L., Brea‐Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé‐Pichon, A., Dye, T. J., Fazzi, E., Felt, R., Fernández‐Jaén, A., Fernández‐Prieto, M., Gantz, E., Gasperowicz, P., Gil‐Nagel, A., … Rubboli, G. (2024). Developmental epileptic encephalopathy in DLG4‐related synaptopathy. Epilepsia, 65(4), 1029–1045. Portico. https://doi.org/10.1111/epi.17876
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Thalwitzer, K. M., Xian, J., de Campo, D., Parthasarathy, S., Magielski, J., Sullivan, K. R., Goss, J., Rigby, C. S., Boland, M., Prosser, B., Ruggiero, S. M., Syrbe, S., & Helbig, I. (2024). Early life seizures and epileptic spasms in STXBP1‐related disorders. Epilepsia, 65(3), 805–816. Portico. https://doi.org/10.1111/epi.17886
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Columbia Affiliation
Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., … Banks, E. (2023). A genomic mutational constraint map using variation in 76,156 human genomes. Nature, 625(7993), 92–100. https://doi.org/10.1038/s41586-023-06045-0
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Guo, M. H., Francioli, L. C., Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., Abreu, M., Salinas, C. A. A., Ahmad, T., Albert, C. M., Alföldi, J., Ardissino, D., Armean, I. M., Atzmon, G., … Banks, E. (2023). Inferring compound heterozygosity from large-scale exome sequencing data. Nature Genetics, 56(1), 152–161. https://doi.org/10.1038/s41588-023-01608-3
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Rivedal, M., Mikkelsen, H., Marti, H.-P., Liu, L., Kiryluk, K., Knoop, T., Bjørneklett, R., Haaskjold, Y. L., Furriol, J., Leh, S., Paunas, F., Bábíčková, J., Scherer, A., Serre, C., Eikrem, O., & Strauss, P. (2024). Glomerular transcriptomics predicts long term outcome and identifies therapeutic strategies for patients with assumed benign IgA nephropathy. Kidney International, 105(4), 717–730. https://doi.org/10.1016/j.kint.2023.12.010
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Kong, X.-F., Bogyo, K., Kapoor, S., Shea, P. R., Groopman, E. E., Thomas-Wilson, A., Cocchi, E., Milo Rasouly, H., Zheng, B., Sun, S., Zhang, J., Martinez, M., Vittorio, J. M., Dove, L. M., Marasa, M., Wang, T. C., Verna, E. C., Worman, H. J., Gharavi, A. G., … Wattacheril, J. (2023). The diagnostic yield of exome sequencing in liver diseases from a curated gene panel. Scientific Reports, 13(1). https://doi.org/10.1038/s41598-023-42202-1
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Janve, V. A., Archer, D. B., Eissman, J. M., Durant, A., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Engelman, C. D., Lu, Q., Fardo, D. W., Buckley, R. F., Mormino, E. C., Kunkle, B. W., Naj, A. C., … Gifford, K. A. (2023). Predicted gene expression identifies novel tissue‐specific gene predictors of memory performance in older adults. Alzheimer’s & Dementia, 19(S12). Portico. https://doi.org/10.1002/alz.073327
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Gupta, Y., Friedman, D. J., McNulty, M. T., Khan, A., Lane, B., Wang, C., Ke, J., Jin, G., Wooden, B., Knob, A. L., Lim, T. Y., Appel, G. B., Huggins, K., Liu, L., Mitrotti, A., Stangl, M. C., Bomback, A., Westland, R., Bodria, M., … Sanna-Cherchi, S. (2023). Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nature Communications, 14(1). https://doi.org/10.1038/s41467-023-43020-9
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Kitsak, M., Ganin, A., Elmokashfi, A., Cui, H., Eisenberg, D. A., Alderson, D. L., Korkin, D., & Linkov, I. (2023). Finding shortest and nearly shortest path nodes in large substantially incomplete networks by hyperbolic mapping. Nature Communications, 14(1). https://doi.org/10.1038/s41467-022-35181-w
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Columbia Affiliation
Lee, A. J., Raghavan, N. S., Bhattarai, P., Reyes‐Dumeyer, D., De Jager, P. L., Bennett, D. A. A., Schneider, J. A., Menon, V., Wang, Y., Lantigua, R. A., Medrano, M., Mejia, D. R., Jiménez‐Velázquez, I. Z., Kukull, W. A., Brickman, A. M., Manly, J. J., Tosto, G., Mayeux, R., Kizil, C., & Vardarajan, B. N. (2023). Interaction of genetic and cardiovascular risk factors identifies pathways involved in Alzheimer’s Disease. Alzheimer’s & Dementia, 19(S13). Portico. https://doi.org/10.1002/alz.073804
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Swaminathan, A. C., Barfield, R., Zhang, M., Povysil, G., Chen, C., Frankel, C., Kelly, F., McKinney, M., Todd, J. L., Allen, A., & Palmer, S. M. (2023). Prevalence and significance of clonal hematopoiesis of indeterminate potential in lung transplant recipients. BMC Pulmonary Medicine, 23(1). https://doi.org/10.1186/s12890-023-02703-1
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Columbia Affiliation
Özdemir, C., Muratoğlu, B., Özel, B. N., Alpdündar-Bulut, E., Tonyalı, G., Ünal, Ş., & Uçkan-Çetinkaya, D. (2023). Multiparametric analysis of etoposide exposed mesenchymal stem cells and Fanconi anemia cells: implications in development of secondary myeloid malignancy. Clinical and Experimental Medicine, 23(8), 4511–4524. https://doi.org/10.1007/s10238-023-01087-0
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Columbia Affiliation
Bahl, A., Honig, L. S., Kang, M. S., Sanchez, D., Reyes‐Dumeyer, D., Lantigua, R. A., Dage, J. L., Brickman, A. M., Manly, J. J., Mayeux, R., & Gu, Y. (2023). Plasma‐based biomarkers of Alzheimer’s Disease in a multi‐ethnic population: A Cross‐Sectional analysis from the WHICAP Study. Alzheimer’s & Dementia, 19(S14). Portico. https://doi.org/10.1002/alz.080443
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Xian, J., Thalwitzer, K. M., McKee, J., Sullivan, K. R., Brimble, E., Fitch, E., Toib, J., Kaufman, M. C., deCampo, D., Cunningham, K., Pierce, S. R., Goss, J., Rigby, C. S., Syrbe, S., Boland, M., Prosser, B., Fitter, N., Ruggiero, S. M., & Helbig, I. (2023). Delineating clinical and developmental outcomes in STXBP1-related disorders. Brain, 146(12), 5182–5197. https://doi.org/10.1093/brain/awad287
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Columbia Affiliation
Archer, D. B., Eissman, J. M., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Kunkle, B. W., Naj, A. C., Gifford, K. A., Cuccaro, M. L., Pericak‐Vance, M. A., Farrer, L. A., Wang, L., Schellenberg, G. D., Mayeux, R. P., … Haines, J. L. (2023). Longitudinal change in memory performance as a strong endophenotype for Alzheimer’s disease. Alzheimer’s & Dementia, 20(2), 1268–1283. Portico. https://doi.org/10.1002/alz.13508
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Yu, H., Kim, W., Park, D. K., Phi, J. H., Lim, B. C., Chae, J., Kim, S., Kim, K. J., Provenzano, F. A., Khodagholy, D., & Gelinas, J. N. (2023). Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy. Epilepsia, 65(1), 190–203. Portico. https://doi.org/10.1111/epi.17810
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Eissman, J. M., Archer, D. B., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Kunkle, B. W., Naj, A. C., Gifford, K. A., Cuccaro, M. L., Cruchaga, C., Pericak‐Vance, M. A., Farrer, L. A., Wang, L., Schellenberg, G. D., … Mayeux, R. P. (2023). Sex‐specific genetic architecture of late‐life memory performance. Alzheimer’s & Dementia, 20(2), 1250–1267. Portico. https://doi.org/10.1002/alz.13507
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Sullivan, J. A., Spillmann, R. C., Schoch, K., Walley, N., Alkelai, A., Stong, N., Shea, P. R., Petrovski, S., Jobanputra, V., McConkie‐Rosell, A., & Shashi, V. (2023). The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic. Clinical Genetics, 105(1), 62–71. Portico. https://doi.org/10.1111/cge.14437
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Dugger, S. A., Dhindsa, R. S., Sampaio, G. D. A., Ressler, A. K., Rafikian, E. E., Petri, S., Letts, V. A., Teoh, J., Ye, J., Colombo, S., Peng, Y., Yang, M., Boland, M. J., Frankel, W. N., & Goldstein, D. B. (2023). Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency. PLOS Genetics, 19(10), e1010952. https://doi.org/10.1371/journal.pgen.1010952
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Cea, C., Zhao, Z., Wisniewski, D. J., Spyropoulos, G. D., Polyravas, A., Gelinas, J. N., & Khodagholy, D. (2023). Integrated internal ion-gated organic electrochemical transistors for stand-alone conformable bioelectronics. Nature Materials, 22(10), 1227–1235. https://doi.org/10.1038/s41563-023-01599-w
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