Author

Sterre C.M. de Boer

Amsterdam UMC Location Vrije Universiteit AmsterdamORCID 0000-0002-9595-7221Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Sven J. van der LeeiD· 2 shared Yolande A.L. PijnenburgiD· 2 shared Agustı́n RuiziD· 1 shared Alberto LleóiD· 1 shared Alberto RábanoiD· 1 shared Alexandria EvansiD· 1 shared Amanda C. CanoiD· 1 shared Amaya Lavín· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetics

Sven J. van der LeeORCID

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2 papers

Recent·Most cited

Accurate DNA Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range

Naren Ramesh, Alexandria Evans, Kevin J. Wojta, Zhongan Yang, Marco P. Boks, René S. Kahn, Sterre C.M. de Boer, Sven J. van der Lee, Yolande A.L. Pijnenburg, Lianne Maria Reus, Roel A. Ophoff

The paper develops a DNA methylation predictor for C9orf72 repeat expansion carriers using EPICv2 data, achieving 98.6% accuracy and identifying four carriers in an independent cohort.

Human Genetics and Genomics Advances · Oct 1, 2025Peer-reviewedGenetics

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

Pablo García‐González, Héctor Rodrigo Lara, Yaroslau Compta, Manuel Fernandez, Sven J. van der Lee, Itziar de Rojas, Laura Saiz-Aúz, Cèlia Painous, Ana Camara, Esteban Muñoz, Marı́a José Martı́, Francesc Valldeoriola, Raquel Puerta, Ignacio Illán‐Gala, Javier Pagonabarraga, , Agustı́n Ruiz

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

medRxiv · Jun 21, 2024 · PreprintGenetic & Genomic Medicine