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Autoantibody subclass predominance is not driven by aberrant class switching or impaired B cell development.
Paardekooper LM, Fillié-Grijpma YE, van der Sluijs-Gelling AJ, Zlei M, van Doorn R, Vermeer MH, Paunovic M, Titulaer MJ, van der Maarel SM, van Dongen JJM, Verschuuren JJ, Huijbers MG; T2B consortium. Paardekooper LM, et al. Among authors: van der maarel sm. Clin Immunol. 2023 Dec;257:109817. doi: 10.1016/j.clim.2023.109817. Epub 2023 Nov 2. Clin Immunol. 2023. PMID: 37925120 Free article.
Development and characterization of agonistic antibodies targeting the Ig-like 1 domain of MuSK.
Lim JL, Augustinus R, Plomp JJ, Roya-Kouchaki K, Vergoossen DLE, Fillié-Grijpma Y, Struijk J, Thomas R, Salvatori D, Steyaert C, Blanchetot C, Vanhauwaert R, Silence K, van der Maarel SM, Verschuuren JJ, Huijbers MG. Lim JL, et al. Among authors: van der maarel sm. Sci Rep. 2023 May 8;13(1):7478. doi: 10.1038/s41598-023-32641-1. Sci Rep. 2023. PMID: 37156800 Free PMC article.
DUX4 expression in cancer induces a metastable early embryonic totipotent program.
Smith AA, Nip Y, Bennett SR, Hamm DC, Lemmers RJLF, van der Vliet PJ, Setty M, van der Maarel SM, Tapscott SJ. Smith AA, et al. Among authors: van der maarel sm. Cell Rep. 2023 Sep 26;42(9):113114. doi: 10.1016/j.celrep.2023.113114. Epub 2023 Sep 8. Cell Rep. 2023. PMID: 37691147 Free PMC article.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Among authors: van der maarel sm. Clin Genet. 2024 Jul;106(1):13-26. doi: 10.1111/cge.14533. Epub 2024 Apr 29. Clin Genet. 2024. PMID: 38685133 Review.
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, van der Vliet PJ, Kretkiewicz MM, Macken WL, Efthymiou S, Dominik N, Morrow JM, Bhatia R, Wilson LA, Houlden H, Hanna MG, Bugiardini E, van der Maarel SM, Srivastava MVP. Vishnu VY, et al. Among authors: van der maarel sm. Eur J Hum Genet. 2024 Apr 25. doi: 10.1038/s41431-024-01577-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38664571
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Wong CJ, et al. Among authors: van der maarel sm. Hum Mol Genet. 2024 Apr 8;33(8):698-708. doi: 10.1093/hmg/ddae007. Hum Mol Genet. 2024. PMID: 38268317
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Among authors: van der maarel sm. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
Zheng D, Wondergem A, Kloet S, Willemsen I, Balog J, Tapscott SJ, Mahfouz A, van den Heuvel A, van der Maarel SM. Zheng D, et al. Among authors: van der maarel sm. Hum Mol Genet. 2024 Jan 20;33(3):284-298. doi: 10.1093/hmg/ddad186. Hum Mol Genet. 2024. PMID: 37934801 Free PMC article.
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Tapia Del Fierro A, den Hamer B, Benetti N, Jansz N, Chen K, Beck T, Vanyai H, Gurzau AD, Daxinger L, Xue S, Ly TTN, Wanigasuriya I, Iminitoff M, Breslin K, Oey H, Krom YD, van der Hoorn D, Bouwman LF, Johanson TM, Ritchie ME, Gouil QA, Reversade B, Prin F, Mohun T, van der Maarel SM, McGlinn E, Murphy JM, Keniry A, de Greef JC, Blewitt ME. Tapia Del Fierro A, et al. Among authors: van der maarel sm. Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6. Nat Commun. 2023. PMID: 37749075 Free PMC article.
235 results