Fleming, V. L., Helsel, B. C., Ptomey, L. T., Handen, B. L., Krinsky‐McHale, S. J., Hom, C. L., Zammit, M., Minhas, D., Luo, W., Laymon, C., Lee, J. H., Lott, I., Cohen, A., Ances, B. M., Brickman, A. M., Pulsifer, M., Clare, I. C. H., Rosa, H. D., … Lai, F. (2025). Longitudinal study of body mass index in relation to Alzheimer’s disease pathology and symptomatology in Down syndrome. Alzheimer’s & Dementia, 21(6). Portico. https://doi.org/10.1002/alz.70387

Janelidze, S., Collij, L. E., Mattsson-Carlgren, N., Antill, A., Laymon, C. M., Lott, I., Rosas, H. D., Minhas, D. S., Luo, W., Zaman, S., Mapstone, M., Head, E., Lai, F., Hartley, S. L., Ances, B. M., Krinsky-McHale, S. J., Lee, J. H., Ossenkoppele, R., Christian, B. T., … Hansson, O. (2025). Prediction of amyloid and tau brain deposition and cognitive decline in people with Down syndrome using plasma biomarkers: a longitudinal cohort study. The Lancet Neurology, 24(7), 591–600. https://doi.org/10.1016/s1474-4422(25)00158-9

Handen, B. L., Mapstone, M., Hartley, S., Andrews, H., Christian, B., Lee, J. H., Tudorascu, D., Hom, C., Ances, B. M., Zaman, S., Krinsky‐McHale, S., Brickman, A. M., Rosas, H. D., Cohen, A., Petersen, M., O’Bryant, S., Harp, J. P., Schmitt, F., … Ptomey, L. (2025). The Alzheimer’s Biomarker Consortium–Down Syndrome (ABC‐DS): A 10‐year report. Alzheimer’s & Dementia, 21(5). Portico. https://doi.org/10.1002/alz.70294

Boyle, R., Koops, E. A., Ances, B., Andrews, E. J., Arenaza‐Urquijo, E. M., Benjanin, A., Brickman, A. M., Buckley, R. F., Clas, G. S., Costello, E., Coughlan, G. T., Conley, A. C., Deng, F., de Paula Faria, D., Edwards, N., Flores‐Aguilar, L., Fortea, J., Ghazi Saidi, L., Head, E., … Hartley, S. (2025). Resistance and resilience to Alzheimer’s disease in Down syndrome. Alzheimer’s & Dementia, 21(4). Portico. https://doi.org/10.1002/alz.70151

Barry, A., Peven, J. C., Handen, B. L., Bolt, D., Krinsky‐McHale, S. J., Hom, C. L., Clare, I. C. H., Glueck, A., Harp, J., Schmitt, F., Zammit, M., Minhas, D., Luo, W., Laymon, C., Price, J., Lee, J. H., Lott, I., Cohen, A., … Ances, B. M. (2025). Longitudinal investigation of gait and Alzheimer’s disease in adults with Down syndrome. Alzheimer’s & Dementia, 21(4). Portico. https://doi.org/10.1002/alz.70211

Jenkins, M. R., Peven, J. C., Kubic, L., Handen, B. L., Krinsky-McHale, S. J., Hom, C. L., Lee, A., Tudorascu, D. L., McLachlan, M., Zammit, M., Minhas, D., Luo, W., Laymon, C., Lee, J. H., Lott, I., Cohen, A., Ances, B. M., Rosas, H. D., … Lai, F. (2025). Behavioral and psychological symptoms of dementia and Alzheimer’s disease progression in Down syndrome. Journal of Neurodevelopmental Disorders, 17(1). https://doi.org/10.1186/s11689-025-09604-w

McLachlan, M., Bettcher, B., McVea, A., DiFilippo, A., Zammit, M., LeMerise, L., Rouanet, J., Price, J., Tudorascu, D., Laymon, C., Keator, D., Lao, P., Brickman, A. M., Fryer, T., Hartley, S., Ances, B. M., Rosas, H. D., Johnson, S., Betthauser, T., … Investigators, A. (2025). The striatum is an early, accurate indicator of amyloid burden using [11C]PiB in Down syndrome: Comparison of two radiotracers. Alzheimer’s & Dementia, 21(4). Portico. https://doi.org/10.1002/alz.70141

Echeverry‐Quiceno, L. M., Llambrich, S., Heredia‐Lidón, Á., Giménez, S., Rozalem‐Aranha, M., Inampudi, P., Heuzé, Y., Sevillano, X., Fortea, J., & Martínez‐Abadías, N. (2025). Potential of facial biomarkers for Alzheimer’s disease and obstructive sleep apnea in Down syndrome and general population. The FASEB Journal, 39(6). Portico. https://doi.org/10.1096/fj.202403009r

Hilgenkamp, T. I. M., Davidson, E., Diaz, K. M., Fleming, R., Foster Kirk, R., Hastert, M., Kim, J., Mann, S., Usseglio, J., Videlefsky, A., & Ptomey, L. (2025). Weight‐loss interventions for adolescents with Down syndrome: a systematic review. Obesity, 33(4), 632–658. Portico. https://doi.org/10.1002/oby.24233

Boerwinkle, A. H., Wisch, J. K., Handen, B. L., Head, E., Mapstone, M., Rafii, M. S., O’Bryant, S. E., Krinsky‐McHale, S. J., Lai, F., Rosas, H. D., Zaman, S., Lott, I. T., Tudorascu, D., Zammit, M., Brickman, A. M., Lee, J. H., & Ances, B. M. (2024). The mediating role of plasma glial fibrillary acidic protein in amyloid and tau pathology in Down’s syndrome. Alzheimer’s & Dementia. Portico. https://doi.org/10.1002/alz.14359

Carmona-Iragui, M., O’Connor, A., Llibre-Guerra, J., Lao, P., Ashton, N. J., Fortea, J., & Sánchez-Valle, R. (2024). Clinical and research application of fluid biomarkers in autosomal dominant Alzheimer’s disease and Down syndrome. EBioMedicine, 108, 105327. https://doi.org/10.1016/j.ebiom.2024.105327

Lao, P., Edwards, N., Flores-Aguilar, L., Alshikho, M., Rizvi, B., Tudorascu, D., Rosas, H. D., Yassa, M., Christian, B. T., Mapstone, M., Handen, B., Zimmerman, M. E., Gutierrez, J., Wilcock, D., Head, E., & Brickman, A. M. (2024). Cerebrovascular disease emerges with age and Alzheimer’s disease in adults with Down syndrome. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-61962-y

Gansa, W., Da Rosa, J. M. C., Menon, K., Sazeides, C., Stewart, O., & Bogunovic, D. (2024). Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome. Journal of Clinical Immunology, 44(6). https://doi.org/10.1007/s10875-024-01725-6

Wisch, J. K., McKay, N. S., Boerwinkle, A. H., Kennedy, J., Flores, S., Handen, B. L., Christian, B. T., Head, E., Mapstone, M., Rafii, M. S., O’Bryant, S. E., Price, J. C., Laymon, C. M., Krinsky-McHale, S. J., Lai, F., Rosas, H. D., Hartley, S. L., Zaman, S., Lott, I. T., … Mori, H. (2024). Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer’s disease: a cross-sectional study. The Lancet Neurology, 23(5), 500–510. https://doi.org/10.1016/s1474-4422(24)00084-x

D’Acunzo, P., Argyrousi, E. K., Ungania, J. M., Kim, Y., DeRosa, S., Pawlik, M., Goulbourne, C. N., Arancio, O., & Levy, E. (2024). Mitovesicles secreted into the extracellular space of brains with mitochondrial dysfunction impair synaptic plasticity. Molecular Neurodegeneration, 19(1). https://doi.org/10.1186/s13024-024-00721-z

Adams, A. D., Lin, J., Bianchi, D. W., Bishop, L., Sato, T., Baxter, L. L., Hoffmann, V., Koehly, L., & Guedj, F. (2024). Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome. American Journal of Obstetrics and Gynecology, 230(2), 258.e1-258.e11. https://doi.org/10.1016/j.ajog.2023.07.056

Pereira, E. M. (2024). Trisomy 21. Pediatrics in Review, 45(2), 116–117. https://doi.org/10.1542/pir.2022-005887

Pandya, P., Levy, B., & Sistermans, E. A. (2023). Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21. Prenatal Diagnosis, 44(4), 381–388. Portico. https://doi.org/10.1002/pd.6477

Luchsinger, J. A., Pang, D., Krinsky‐McHale, S. J., Schupf, N., Lee, J. H., Silverman, W., & Zigman, W. B. (2023). Obesity, diabetes and their metabolic correlates in middle‐aged adults with Down syndrome. Journal of Intellectual Disability Research, 68(3), 212–222. Portico. https://doi.org/10.1111/jir.13103

Gorijala, P., Aslam, M. M., Dang, L. T., Xicota, L., Fernandez, M. V., Sung, Y. J., Fan, K., Feingold, E., Surace, E. I., Chhatwal, J. P., Hom, C. L., Hartley, S. L., Hassenstab, J., Perrin, R. J., Mapstone, M., Zaman, S. H., Ances, B. M., Kamboh, M. I., … Lee, J. H. (2023). Alzheimer’s polygenic risk scores are associated with cognitive phenotypes in Down syndrome. Alzheimer’s & Dementia, 20(2), 1038–1049. Portico. https://doi.org/10.1002/alz.13506

Baruchel, A., Bourquin, J.-P., Crispino, J., Cuartero, S., Hasle, H., Hitzler, J., Klusmann, J.-H., Izraeli, S., Lane, A. A., Malinge, S., Rabin, K. R., Roberts, I., Ryeom, S., Tasian, S. K., & Wagenblast, E. (2023). Down syndrome and leukemia: from basic mechanisms to clinical advances. Haematologica, 108(10), 2570–2581. https://doi.org/10.3324/haematol.2023.283225

Stanbouly, D., Steinberg, B., & Chuang, S.-K. (2022). What are the Soft Tissue Risk Factors for Obstructive Sleep Apnea in Patients with Down’s Syndrome? The Cleft Palate Craniofacial Journal, 60(8), 986–992. https://doi.org/10.1177/10556656221088171

Fleming, V., Helsel, B. C., Ptomey, L. T., Rosas, H. D., Handen, B., Laymon, C., Christian, B. T., Head, E., Mapstone, M., Lai, F., Krinsky-McHale, S., Zaman, S., Ances, B. M., Lee, J. H., & Hartley, S. L. (2023). Weight Loss and Alzheimer’s Disease in Down Syndrome. Journal of Alzheimer’s Disease, 91(3), 1215–1227. https://doi.org/10.3233/jad-220865

Boerwinkle, A. H., Gordon, B. A., Wisch, J., Flores, S., Henson, R. L., Butt, O. H., McKay, N., Chen, C. D., Benzinger, T. L. S., Fagan, A. M., Handen, B. L., Christian, B. T., Head, E., Mapstone, M., Rafii, M. S., O’Bryant, S., Lai, F., Rosas, H. D., Lee, J. H., … Xu, X. (2023). Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer’s disease: a cross-sectional study. The Lancet Neurology, 22(1), 55–65. https://doi.org/10.1016/s1474-4422(22)00408-2

Moni, F., Petersen, M. E., Zhang, F., Lao, P. J., Zimmerman, M. E., Gu, Y., Gutierrez, J., Rizvi, B., Laing, K. K., Igwe, K. C., Sathishkumar, M., Keator, D., Andrews, H., Krinsky‐McHale, S., Head, E., Lee, J. H., Lai, F., Yassa, M. A., Rosas, H. D., … Brickman, A. M. (2022). Probing the proteome to explore potential correlates of increased Alzheimer’s‐related cerebrovascular disease in adults with Down syndrome. Alzheimer’s & Dementia, 18(10), 1744–1753. Portico. https://doi.org/10.1002/alz.12627

Silverman, W., Krinsky‐McHale, S. J., Zigman, W. B., & Schupf, N. (2021). Adults with Down syndrome in randomized clinical trials targeting prevention of Alzheimer’s disease. Alzheimer’s & Dementia, 18(10), 1736–1743. Portico. https://doi.org/10.1002/alz.12520

Janelidze, S., Christian, B. T., Price, J., Laymon, C., Schupf, N., Klunk, W. E., Lott, I., Silverman, W., Rosas, H. D., Zaman, S., Mapstone, M., Lai, F., Ances, B. M., Handen, B. L., & Hansson, O. (2022). Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers. JAMA Neurology, 79(8), 797. https://doi.org/10.1001/jamaneurol.2022.1740

Dar, P., Jacobsson, B., MacPherson, C., Egbert, M., Malone, F., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Edwards, L., Haeri, S., Silver, R., Vohra, N., Hyett, J., Clunie, G., Demko, Z., Martin, K., Rabinowitz, M., … Norton, M. E. (2022). Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. American Journal of Obstetrics and Gynecology, 227(2), 259.e1-259.e14. https://doi.org/10.1016/j.ajog.2022.01.019

Godown, J., Fountain, D., Bansal, N., Ameduri, R., Anderson, S., Beasley, G., Burstein, D., Knecht, K., Molina, K., Pye, S., Richmond, M., Spinner, J. A., Watanabe, K., West, S., Reinhardt, Z., Scheel, J., Urschel, S., Villa, C., & Hollander, S. A. (2022). Heart Transplantation in Children With Down Syndrome. Journal of the American Heart Association, 11(10). https://doi.org/10.1161/jaha.121.024883

Havrilla, J. M., Zhao, M., Liu, C., Weng, C., Helbig, I., Bhoj, E., & Wang, K. (2021). Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records. Genes, 12(8), 1159. https://doi.org/10.3390/genes12081159