Silvère M. van der Maarel

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 17 papers. Top paper: “Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation”.

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

JCI Insight(2021)10.1172/jci.insight.148363

N/A

0.648DataRank · unranked

74 citations

Hong Joo Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck +21 more

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Blood(2020)10.1182/blood.2020006441

N/A

0.578DataRank · unranked

46 citations

M. Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio +29 more

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Clinical Genetics(2024)10.1111/cge.14533

N/A

0.568DataRank · unranked

43 citations

Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier +16 more

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51612

N/A

0.561DataRank · unranked

41 citations

Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia Estrella, Emily S. McGaughy +19 more

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

Human Molecular Genetics(2024)10.1093/hmg/ddae007

N/A

0.477DataRank · unranked

23 citations

Seth D. Friedman, Lauren Snider, Sean Bennett, Takako I. Jones, Peter L. Jones +11 more

p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models

Nature Genetics(2021)10.1038/s41588-021-00893-0

N/A

0DataRank · unranked

117 citations

B. D. Weaver, Christina M. Smith, Jingtao Guo, Paula Stein, Sean Shadle +9 more

Elevated plasma complement components in facioscapulohumeral dystrophy

Human Molecular Genetics(2021)10.1093/hmg/ddab364

N/A

0DataRank · unranked

21 citations

Leo Wang, V. Michael Holers, Ashley Frazer‐Abel, Silvère M. van der Maarel, Rabi Tawil +4 more

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.12.443934

N/A

0DataRank · unranked

6 citations

Bianca den Hamer, Natasha Jansz, Kelan Chen, Tamara Beck, Hannah Vanyai +22 more

DUX4 expression in cancer induces a metastable early embryonic totipotent program

Cell Reports(2023)10.1016/j.celrep.2023.113114

N/A

0DataRank · unranked

22 citations

Yee Nip, Sean Bennett, Danielle C. Hamm, Richard J.L.F. Lemmers, Patrick J. van der Vliet +4 more

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Brain(2023)10.1093/brain/awad312

N/A

0DataRank · unranked

16 citations

Russell J. Butterfield, Patrick J. van der Vliet, Jan De Bleecker, Ludo van der Pol, Diane M. Dunn +18 more

Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.02.20.529303

N/A

0DataRank · unranked

2 citations

Seth D. Friedman, Lauren Snider, Sean Bennett, Takako I. Jones, Peter L. Jones +11 more

Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies

Human Molecular Genetics(2020)10.1093/hmg/ddaa031

N/A

0DataRank · unranked

83 citations

Leo H. Wang, Seth D. Friedman, Dennis Shaw, Amy E. Campbell, Chris B Budech +7 more

A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing

Human Molecular Genetics(2025)10.1093/hmg/ddaf114

N/A

0DataRank · unranked

1 citations

Faith G St. Amant, Danielle C. Hamm, Sean Bennett, Taranjit S. Gujral, Silvère M. van der Maarel +2 more

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

Neurology(2020)10.1212/wnl.0000000000008977

N/A

0DataRank · unranked

12 citations

Nicol C. Voermans, Robbert van der Pijl, Marloes van den Berg, Arend Heerschap, Hieronymus Van Hees +5 more

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

Skeletal Muscle(2020)10.1186/s13395-020-00247-0

N/A

0DataRank · unranked

12 citations

Bianca den Hamer, Elwin P. Verveer, Lente J. S. Lerink, Yvonne D. Krom, Silvère M. van der Maarel +2 more

The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy

Current Opinion in Neurology(2020)10.1097/wco.0000000000000849

N/A

0DataRank · unranked

10 citations

Silvère M. van der Maarel, Jessica C. de Greef, Linde F. Bouwman

Meeting report: the 2020 FSHD International Research Congress

Skeletal Muscle(2020)10.1186/s13395-020-00253-2

N/A

0DataRank · unranked

6 citations

Robert J. Bloch, Julie Dumonceaux, Scott Q. Harper, Silvère M. van der Maarel, Francis M. Sverdrup +4 more