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Page 1
Image-based drug screening combined with molecular profiling identifies signatures and drivers of therapy resistance in pediatric AML.
Haladik B, Maurer-Granofszky M, Zoescher P, Jimenez-Heredia R, Frohne A, Segarra-Roca A, Casey C, Kartnig F, Giuliani S, Rashkova C, Repiscak P, Dworzak MN, Superti-Furga G, Boztug K. Haladik B, et al. Among authors: segarra roca a. Cell Rep Med. 2025 Sep 16;6(9):102304. doi: 10.1016/j.xcrm.2025.102304. Epub 2025 Aug 20. Cell Rep Med. 2025. PMID: 40840446 Free PMC article.
Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency.
Yorgun Altunbas M, Kogler H, Abolhassani H, Akkus E, Basturk A, Akkelle E, Sayar E, Polat E, Kara A, Can S, Frohne A, Segarra-Roca A, Jimenez-Heredia R, Babayeva R, Sefer AP, Kiykim A, Bilgic Eltan S, Karakoc-Aydiner E, Ozen A, Beser OF, Boztug K, Rezaei N, Baris S. Yorgun Altunbas M, et al. Among authors: segarra roca a. J Allergy Clin Immunol Pract. 2025 Sep;13(9):2449-2459.e7. doi: 10.1016/j.jaip.2025.03.026. Epub 2025 Mar 26. J Allergy Clin Immunol Pract. 2025. PMID: 40154740
LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.
Ransmayr B, Bal SK, Thian M, Svaton M, van de Wetering C, Hafemeister C, Segarra-Roca A, Block J, Frohne A, Krolo A, Altunbas MY, Bilgic-Eltan S, Kıykım A, Aydiner O, Kesim S, Inanir S, Karakoc-Aydiner E, Ozen A, Aba Ü, Çomak A, Tuğcu GD, Pazdzior R, Huber B, Farlik M, Kubicek S, von Bernuth H, Simonitsch-Klupp I, Rizzi M, Halbritter F, Tumanov AV, Kraakman MJ, Metin A, Castanon I, Erman B, Baris S, Boztug K. Ransmayr B, et al. Among authors: segarra roca a. Sci Immunol. 2024 Nov 22;9(101):eadq8796. doi: 10.1126/sciimmunol.adq8796. Epub 2024 Nov 22. Sci Immunol. 2024. PMID: 39576873 Free PMC article.
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L, Jimenez-Heredia R, Zeitlhofer P, Novak W, Eder SK, Segarra-Roca A, Frohne A, Nebral K, Haimel M, Geyeregger R, Roetzer-Londgin K, Haas OA, Boztug K. Kager L, et al. Among authors: segarra roca a. Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan. Hemasphere. 2024. PMID: 38434532 Free PMC article. No abstract available.
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Novak W, Berner J, Svaton M, Jimenez-Heredia R, Segarra-Roca A, Frohne A, Guiliani S, Rouhani D, Eder SK, Rottal A, Trapin D, Scheuchenstuhl A, Pickl WF, Simonitsch-Klupp I, Kager L, Boztug K. Novak W, et al. Among authors: segarra roca a. Br J Haematol. 2023 Nov;203(4):678-683. doi: 10.1111/bjh.19061. Epub 2023 Aug 30. Br J Haematol. 2023. PMID: 37646304
Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.
Fallahi M, Jamee M, Enayat J, Abdollahimajd F, Mesdaghi M, Khoddami M, Segarra-Roca A, Frohne A, Dmytrus J, Keramatipour M, Mansouri M, Eslamian G, Fallah S, Boztug K, Chavoshzadeh Z. Fallahi M, et al. Among authors: segarra roca a. Allergy Asthma Clin Immunol. 2022 Dec 24;18(1):111. doi: 10.1186/s13223-022-00749-0. Allergy Asthma Clin Immunol. 2022. PMID: 36566211 Free PMC article.
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
Momtazmanesh S, Rayzan E, Zoghi S, Shahkarami S, Molatefi R, Mohammadzadeh I, Ghaffari J, Mahmoudi H, Dmytrus J, Segarra-Roca A, Somekh I, Witzel M, Hauck F, Boztug K, Klein C, Rezaei N. Momtazmanesh S, et al. Among authors: segarra roca a. Endocr Metab Immune Disord Drug Targets. 2022;22(1):159-168. doi: 10.2174/1871530321666210226143912. Endocr Metab Immune Disord Drug Targets. 2022. PMID: 33634762
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. Corral-Juan M, et al. Among authors: segarra roca a. Brain. 2018 Jul 1;141(7):1981-1997. doi: 10.1093/brain/awy137. Brain. 2018. PMID: 29939198 Free article.