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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: balanda n. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis.
Muratore F, Marvisi C, Castrignanò P, Nicoli D, Farnetti E, Bonanno O, Longo R, Zaldini P, Galli E, Balanda N, Beck DB, Grayson PC, Pipitone N, Boiardi L, Salvarani C. Muratore F, et al. Among authors: balanda n. Arthritis Rheumatol. 2022 Apr;74(4):665-670. doi: 10.1002/art.41992. Epub 2022 Mar 3. Arthritis Rheumatol. 2022. PMID: 34611997 Free PMC article.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: balanda n. Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. Am J Hum Genet. 2018. PMID: 30526868 Free PMC article.
Shared and distinct mechanisms of UBA1 inactivation across different diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A. Collins JC, et al. Among authors: balanda n. EMBO J. 2024 May;43(10):1919-1946. doi: 10.1038/s44318-024-00046-z. Epub 2024 Feb 15. EMBO J. 2024. PMID: 38360993 Free PMC article.
Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A. Collins JC, et al. Among authors: balanda n. bioRxiv [Preprint]. 2023 Oct 10:2023.10.10.561769. doi: 10.1101/2023.10.10.561769. bioRxiv. 2023. PMID: 37873213 Free PMC article. Updated. Preprint.