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2019 1
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CDCA7-associated global aberrant DNA hypomethylation translates to localized, tissue-specific transcriptional responses.
Vukic M, Chouaref J, Della Chiara V, Dogan S, Ratner F, Hogenboom JZM, Epp TA, Chawengsaksophak K, Vonk KKD, Breukel C, Ariyurek Y, San Leon Granado D, Kloet SL, Daxinger L. Vukic M, et al. Among authors: san leon granado d. Sci Adv. 2024 Feb 9;10(6):eadk3384. doi: 10.1126/sciadv.adk3384. Epub 2024 Feb 9. Sci Adv. 2024. PMID: 38335290 Free PMC article.
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
van den Heuvel A, Lassche S, Mul K, Greco A, San León Granado D, Heerschap A, Küsters B, Tapscott SJ, Voermans NC, van Engelen BGM, van der Maarel SM. van den Heuvel A, et al. Among authors: san leon granado d. Sci Rep. 2022 Jan 26;12(1):1426. doi: 10.1038/s41598-022-04817-8. Sci Rep. 2022. PMID: 35082321 Free PMC article.
The role of MORC3 in silencing transposable elements in mouse embryonic stem cells.
Desai VP, Chouaref J, Wu H, Pastor WA, Kan RL, Oey HM, Li Z, Ho J, Vonk KKD, San Leon Granado D, Christopher MA, Clark AT, Jacobsen SE, Daxinger L. Desai VP, et al. Among authors: san leon granado d. Epigenetics Chromatin. 2021 Oct 27;14(1):49. doi: 10.1186/s13072-021-00420-9. Epigenetics Chromatin. 2021. PMID: 34706774 Free PMC article.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Lemmers RJLF, van der Vliet PJ, Granado DSL, van der Stoep N, Buermans H, van Schendel R, Schimmel J, de Visser M, van Coster R, Jeanpierre M, Laforet P, Upadhyaya M, van Engelen B, Sacconi S, Tawil R, Voermans NC, Rogers M, van der Maarel SM. Lemmers RJLF, et al. Among authors: granado dsl. Hum Mol Genet. 2022 Mar 3;31(5):748-760. doi: 10.1093/hmg/ddab250. Hum Mol Genet. 2022. PMID: 34559225 Free PMC article.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. Lemmers RJLF, et al. Among authors: san leon granado d. J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26. J Med Genet. 2019. PMID: 31243061 Free PMC article.