基本信息
views: 6
Career Trajectory
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 370 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Richard Lemmers,Russell Butterfield, Patrick van der Vliet,Jan De Bleecker,W. L. Van der Pol,Corrie Erasmus,Marc D'Hooghe,Kristof Verhoeven,Judit Balog,Baziel van Engelen,Jeffrey Statland,Enrico Bugiardini,Nienke van der Stoep,Evangelista Teresinha,Chiara Marini Bettolo,Peter Van den Bergh,Rabi Tawil,Nicol Voermans,John Vissing, Bob Weiss,Silvere M. van der Maarel
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 602-602
Cited0Views0Bibtex
0
0
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,Lindsay A. Wilson,Henry Houlden,Michael G. Hanna,Enrico Bugiardini,Silvere M. van der Maarel,M. V. Padma Srivastava
Emiliano Giardina,Pilar Camaño,Sarah Burton‐Jones,Gina Ravenscroft,Franclo Henning,Frederique Magdinier,Nienke van der Stoep,Patrick J. van der Vliet,Rafaëlle Bernard,Pedro J. Tomaselli,Mark R. Davis,Ichizo Nishino,Piraye Oflazer, Valerie Race,Venugopalan Y. Vishnu, Victoria Williams,Cláudia F. R. Sobreira,Silvere M. van der Maarel, Steve A. Moore,Nicol C. Voermans,Richard J. L. F. Lemmers
Clinical geneticsno. 1 (2024): 13-26
Emiliano Giardina,Pilar Camano,Sarah Burton-Jones,Gina Ravenscroft,Franclo Henning,Frederique Magdinier,Nienke van der Stoep,Patrick J. van der Vliet,Rafaelle Bernard,Pedro J. Tomaselli,Mark R. Davis,Ichizo Nishino,Piraye Oflazer, Valerie Race,Venugopalan Y. Vishnu, Victoria Williams,Claudia F. R. Sobreira,Silvere M. van der Maarel, Steve A. Moore,Nicol C. Voermans,Richard J. L. F. Lemmers
CLINICAL GENETICSno. 1 (2024): 13-26
European journal of neuroscience/EJN European journal of neuroscience (2024)
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,Silvere M. van der Maarel,Dana L.E. Vergoossen, Roeland Vanhauwaert,Jan J. Verschuuren, Maartje G. Huijbers
biorxiv(2024)
Andres Tapia del Fierro,Bianca den Hamer,Natalia Benetti,Natasha Jansz,Kelan Chen,Tamara Beck,Hannah Vanyai,Alexandra D. Gurzau,Lucia Daxinger,Shifeng Xue,Thanh Thao Nguyen Ly,Iromi Wanigasuriya, Megan Iminitoff,Kelsey Breslin,Harald Oey,Yvonne D. Krom,Dinja van der Hoorn,Linde F. Bouwman,Timothy M. Johanson,Matthew E. Ritchie, Quentin A. Gouil,Bruno Reversade,Fabrice Prin,Timothy Mohun,Silvere M. van der Maarel,Edwina Mcglinn, James M. Murphy,Andrew Keniry,Jessica C. de Greef,Marnie E. Blewitt
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,Karen Silence,Silvère M. van der Maarel,Jan J. Verschuuren,Maartje G. Huijbers
Stephanie Efthymiou,Richard J. L. F. Lemmers,Venugopalan Y. Vishnu,Natalia Dominik,Benedetta Perrone,Stefano Facchini,Elisa Vegezzi,Sabrina Ravaglia,Lindsay Wilson,Patrick J. van der Vliet,Rinkle Mishra,Alisha Reyaz, Tanveer Ahmad,Rohit Bhatia,James M. Polke,Mv Padma Srivastava,Andrea Cortese,Henry Houlden,Silvere M. van der Maarel,Michael G. Hanna,Enrico Bugiardini
Biomoleculesno. 11 (2023): 1567-1567
Load More
Author Statistics
#Papers: 444
#Citation: 20224
H-Index: 73
G-Index: 126
Sociability: 8
Diversity: 4
Activity: 67
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn