Author

Maartje J. Vogel

Amsterdam University Medical Centers

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam Christian NajiD· 1 shared Afina Willemina LemstraiD· 1 shared Alberto LleóiD· 1 shared Alexandra MartinsiD· 1 shared Alfredo Ramı́reziD· 1 shared Alun Meggy· 1 shared Álvaro N.A. MonteiroiD· 1 shared Amanda B. SpurdleiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam Christian NajORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 13, 2024

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

104 citationstop 1%

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintJul 13, 2023

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

Henne H. Holstege, Matthijs W. J. de Waal, Niccoló Tesi…·Jennifer S. Yokoyama

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

10 citations

humanGWAS summary statistics

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