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Page 1
Williams syndrome.
Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Kozel BA, et al. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Nat Rev Dis Primers. 2021. PMID: 34140529 Free PMC article. Review.
Deep phenotyping of post-infectious myalgic encephalomyelitis/chronic fatigue syndrome.
Walitt B, Singh K, LaMunion SR, Hallett M, Jacobson S, Chen K, Enose-Akahata Y, Apps R, Barb JJ, Bedard P, Brychta RJ, Buckley AW, Burbelo PD, Calco B, Cathay B, Chen L, Chigurupati S, Chen J, Cheung F, Chin LMK, Coleman BW, Courville AB, Deming MS, Drinkard B, Feng LR, Ferrucci L, Gabel SA, Gavin A, Goldstein DS, Hassanzadeh S, Horan SC, Horovitz SG, Johnson KR, Govan AJ, Knutson KM, Kreskow JD, Levin M, Lyons JJ, Madian N, Malik N, Mammen AL, McCulloch JA, McGurrin PM, Milner JD, Moaddel R, Mueller GA, Mukherjee A, Muñoz-Braceras S, Norato G, Pak K, Pinal-Fernandez I, Popa T, Reoma LB, Sack MN, Safavi F, Saligan LN, Sellers BA, Sinclair S, Smith B, Snow J, Solin S, Stussman BJ, Trinchieri G, Turner SA, Vetter CS, Vial F, Vizioli C, Williams A, Yang SB; Center for Human Immunology, Autoimmunity, and Inflammation (CHI) Consortium; Nath A. Walitt B, et al. Nat Commun. 2024 Feb 21;15(1):907. doi: 10.1038/s41467-024-45107-3. Nat Commun. 2024. PMID: 38383456 Free PMC article.
Elastin-driven genetic diseases.
Duque Lasio ML, Kozel BA. Duque Lasio ML, et al. Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28. Matrix Biol. 2018. PMID: 29501665 Free PMC article. Review.
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA, Osgood S, Raja N, Levin MD, Vitale S, Brooks BP, Hufnagel RB, Kozel BA. Huryn LA, et al. Br J Ophthalmol. 2023 Oct;107(10):1554-1559. doi: 10.1136/bjophthalmol-2022-321103. Epub 2022 Jun 27. Br J Ophthalmol. 2023. PMID: 35760456 Free PMC article.