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Bio
Prof. van der Maarel’s scientific interests focus on the genetic and epigenetic regulation of repetitive DNA in the human genome in relation to disease. His main research interest is FSHD, an adult muscle disease caused by genetic and epigenetic changes in a repetitive DNA structure on the tip of the long arm of chromosome 4. He also studies the Immunodeficiency, Centromere instability, and Facial anomalies (ICF) syndrome, a heterogenetic primary immunodeficiency caused by at least four different gene defects which result in epigenetic changes in repetitive structures in the genome. He has also made research contributions to other muscular dystrophies including OPMD and LGMD
Research Interests
Papers共 376 篇Author StatisticsCo-AuthorSimilar Experts
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 602-602
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Venugopalan Y. Vishnu,Richard J. L. F. Lemmers,Alisha Reyaz,Rinkle Mishra, Tanveer Ahmad,Patrick J. van der Vliet, Marcelina M. Kretkiewicz,William L. Macken,Stephanie Efthymiou,Natalia Dominik,Jasper M. Morrow,Rohit Bhatia,
crossref(2024)
Clinical geneticsno. 1 (2024): 13-26
Human molecular genetics online/Human molecular geneticsno. 8 (2024): 698-708
Authorea (Authorea)no. 12 (2024): 3292-3308
CLINICAL GENETICSno. 1 (2024): 13-26
Jamie L. Lim, Stine Marie Jensen,Jaap J. Plomp, Bernhardt Vankerckhoven, Christa Kneip, Rani Coppejans, Christophe Steyaert, Kathleen Moens, Lieselot De Clercq,Martijn R. Tannemaat,Peter Ulrichts,Karen Silence,
biorxiv(2024)
NATURE COMMUNICATIONSno. 1 (2023)
Jamie L. Lim,Roy Augustinus,Jaap J. Plomp, Kasra Roya-Kouchaki,Dana L. E. Vergoossen,Yvonne Fillié-Grijpma, Josephine Struijk, Rachel Thomas,Daniela Salvatori, Christophe Steyaert,Christophe Blanchetot, Roeland Vanhauwaert,
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Author Statistics
#Papers: 385
#Citation: 18208
H-Index: 73
G-Index: 121
Sociability: 8
Diversity: 3
Activity: 56
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