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Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS, Mersiyanova IV, Kurnikova MA, Ovsyannikova GS, Hachatryan LA, Bobrynina VO, Maschan MA, Novichkova GA, Lipton JM, Maschan AA. Smetanina NS, et al. Among authors: kurnikova ma. Pediatr Blood Cancer. 2015 Sep;62(9):1597-600. doi: 10.1002/pbc.25534. Epub 2015 May 6. Pediatr Blood Cancer. 2015. PMID: 25946618 Free PMC article.
Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility.
Khoreva A, Butov KR, Nikolaeva EI, Martyanov A, Kulakovskaya E, Pershin D, Alexenko M, Kurnikova M, Abasov R, Raykina E, Abramov D, Arnaudova K, Rodina Y, Trubina N, Skvortsova Y, Balashov D, Sveshnikova A, Maschan A, Novichkova G, Panteleev M, Shcherbina A. Khoreva A, et al. J Allergy Clin Immunol Glob. 2023 Sep 27;3(1):100172. doi: 10.1016/j.jacig.2023.100172. eCollection 2024 Feb. J Allergy Clin Immunol Glob. 2023. PMID: 37915722 Free PMC article.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
Chen L, Mamutova A, Kozlova A, Latysheva E, Evgeny F, Latysheva T, Savostyanov K, Pushkov A, Zhanin I, Raykina E, Kurnikova M, Mersiyanova I, Platt CD, Jee H, Brodeur K, Du Y, Liu M, Weiss A, Schulert GS, Rodriguez-Smith J, Hershfield MS, Aksentijevich I, Zhou Q, Nigrovic PA, Shcherbina A, Alexeeva E, Lee PY. Chen L, et al. J Allergy Clin Immunol. 2023 Sep;152(3):771-782. doi: 10.1016/j.jaci.2023.04.014. Epub 2023 May 5. J Allergy Clin Immunol. 2023. PMID: 37150360