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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A. Yang F, et al. Among authors: sturm rf. Am J Hum Genet. 2024 May 10:S0002-9297(24)00129-0. doi: 10.1016/j.ajhg.2024.04.014. Online ahead of print. Am J Hum Genet. 2024. PMID: 38744284
POT1 and multiple primary melanomas: the dermatological phenotype.
Maas EJ, DeBortoli E, Nathan V, Freeman NP, Mothershaw A, Smit DJ, Betz-Stablein B, Aoude LG, Stark MS, Sturm RA, Soyer HP, McInerney-Leo AM. Maas EJ, et al. Among authors: sturm ra. J Med Genet. 2024 May 8:jmg-2023-109637. doi: 10.1136/jmg-2023-109637. Online ahead of print. J Med Genet. 2024. PMID: 38724174
Multipotent bone marrow cell-seeded polymeric composites drive long-term, definitive urinary bladder tissue regeneration.
Bury MI, Fuller NJ, Wang X, Chan YY, Sturm RM, Oh SS, Sofer LA, Arora HC, Sharma TT, Nolan BG, Feng W, Rabizadeh RR, Barac M, Edassery SS, Goedegebuure MM, Wang LW, Ganesh B, Halliday LC, Seniw ME, Edassery SL, Mahmud NB, Hofer MD, McKenna KE, Cheng EY, Ameer GA, Sharma AK. Bury MI, et al. Among authors: sturm rm. PNAS Nexus. 2024 Jan 30;3(2):pgae038. doi: 10.1093/pnasnexus/pgae038. eCollection 2024 Feb. PNAS Nexus. 2024. PMID: 38344009 Free PMC article.
The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.
Atkinson C, McInerney-Leo AM, Proctor M, Lanagan C, Stevenson AJ, Dehkhoda F, Caole M, Maas E, Ainger S, Pritchard AL, Johansson PA, Leo P, Hayward NK, Sturm RA, Duncan EL, Gabrielli B. Atkinson C, et al. Among authors: sturm ra. Int J Mol Sci. 2024 Jan 29;25(3):1664. doi: 10.3390/ijms25031664. Int J Mol Sci. 2024. PMID: 38338943 Free PMC article.
Advances in 3D bioprinting for urethral tissue reconstruction.
Booth D, Afshari R, Ghovvati M, Shariati K, Sturm R, Annabi N. Booth D, et al. Among authors: sturm r. Trends Biotechnol. 2024 May;42(5):544-559. doi: 10.1016/j.tibtech.2023.10.009. Epub 2023 Dec 5. Trends Biotechnol. 2024. PMID: 38057169 Free article. Review.
Inter-rater reliability of the extended Composite Quality Score (CQS-2).
Mickenautsch S, Rupf S, Miletić I, Strähle UT, Sturm R, Kimmie-Dhansay F, Vidosusić K, Yengopal V. Mickenautsch S, et al. Among authors: sturm r. Front Med (Lausanne). 2023 Aug 17;10:1201517. doi: 10.3389/fmed.2023.1201517. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37663665 Free PMC article.
652 results