Silvere Maria van der Maarel - Selected Publications#

Van der Maarel, S: 237 publications since 1991. H index 58 (WoS).

The publications below best represent my contribution to science. It describes the discovery of all currently known causes of FSHD, including the landmark paper describing the most common cause of FSHD (Lemmers et al., Science 2010), mutations in SMCHD1 as second cause (Lemmers et al., Nat Genet 2012), and the rare genetic causes of mutations in DNMT3B (van den Boogaard et al., Am J Hum Genet 2016) and LRIF1 (Hamanaka et al., Neurology 2020). Despite being defined as distinct genetic entities, together all forms of FSHD create a disease continuum converging into DUX4 expression in skeletal muscle as root cause of the disease (Sacconi et al Neurology 2019). It also lists our discovery of three (of the four) genetic causes for ICF syndrome (de Greef et al., Am J Hum Genet 2011 and Thijssen et al., Nat Commun 2015). In Šikrová et al (Mol Ther Nucleic Acids) we circle back to the landmark paper in 2010 demonstrating the critical importance of DUX4 in FSHD pathogensis by gene editing the DUX4 polyadenylation signal while in Grow et al (Nat Genet 2021) we have contributed by, for the first time, demonstrating the complex genetic and epigenetic structure of the mouse Dux repeat using long read sequencing. In Helfricht et al (J Exp Med 2020) we uncover the functional consequences of mutations in one of the ICF genes we have identified.

Grow EJ, Weaver BD, Smith C, Guo J, Stein P, 4 Shadle S, Hendrickson PG, Johnson NE, Butterfield RJ, Menafra R, Kloet S, van der Maarel SM, Williams CJ, Cairns BR. DUX/DUX4 activation is convergently coupled to p53 signaling in FSHD patient and 2C-like cells. Nat. Genet. 2021; 53:1207-1220 [IF 38 (2020); 2 citations]

Šikrová D, Cadar VA, Ariyurek Y, Laros JFJ, Balog J, van der Maarel SM. Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in Facioscapulohumeral muscular dystrophy. Mol. Ther. Nucleic Acids 2021; 25:342-354 [IF 9 (2020), 0 citations]

Helfricht A, Thijssen PE, Rother MB, Shah R, Du L, Takada S , Ms. Mélanie Rogier, Moritz J, IJspeert H, Stoepker C, van Ostaijen-ten Dam MM, Heyer V , Luijsterburg MS, de Groot A, Jak R, Grootaers G, Wang J, Rao P, Vertegaal ACO, van Tol MJD, Pan-Hammarström Q, Reina-San-Martin B, van der Burg M, van der Maarel SM, van Attikum H. Loss of ZBTB24 impairs non-homologous end-joining and class-switch recombination in ICF syndrome. J Exp Med. 2020; 217: e20191688 [IF 14; 9 citations]

Hamanaka K, Šikrová D, Mitsuhashi S, Goto K, Oya Y, Ishikawa T, Mutoh T, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Kuwabara S, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Balog J, Nishino I, van der Maarel SM. A homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020; 94:e2441-e2447 [IF 10; 25 citations]

Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. FSHD1 and FSHD2 form a disease continuum. Neurology, 2019; 92:e2273-e2285 [IF 9; 24 citations]

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm K, van den Akker RFP, Kriek M, Laurense – Bik MEY, van Ostaijen - ten Dam MM, Hansson KBM, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM. Mutations in DNMT3B modify the epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy. Am. J. Hum. Genet. 2016; 98:1020–1029 [IF 9; 101 citations]

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Lemmers RJLF, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, Weemaes C, Francastel C*, van der Maarel SM*, Sasaki H*. Mutations in CDCA7 and HELLS cause Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome. Nat. Comm. 2015; 6:7870 [IF 11; 89 citations]

Lemmers RJLF, Tawil R, Petek LM, Balog J, Block GJ, Santen GWE, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Klooster R, Krom Y,Sun Y, Den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BGM, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Digenic inheritance of SMCHD1 haplo-insufficiency and a FSHD-permissive D4Z4 allele cause variegated DUX4 expression in Facioscapulohumeral Muscular Dystrophy 2. Nat. Genet. 2012;44:1370-1374 [IF 35; 337 citations]

de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Gennery AE, Gimelli G, Reisli I, Schuetz C, Sznajer Y, Wijmenga C, ten Dam MM, Lankester AC, van Tol MJ, van den Elsen PJ, Weemaes CM, van der Maarel SM. Loss of function mutations in ZBTB24 cause immunodeficiency, centromeric instability and facial anomalies syndrome type 2. Am. J. Hum. Genet. 2011;88:796-804 [IF 11; 98 citations]

Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller D, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A Unifying Genetic Mechanism for Facioscapulohumeral muscular dystrophy. Science 2010;329:1650-1653. [IF 31; 420 citations]