Author

Maaike P.G. Vreeswijk

Leiden University Medical CenterORCID 0000-0003-4068-9271Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 2 shared Emma TudiniiD· 2 shared Encarna B. Gómez-GarcíaiD· 2 shared Fergus J. CouchiD· 2 shared Johanna S. Hadler· 2 shared Logan C. WalkeriD· 2 shared Marcy E. RichardsoniD· 2 shared Michael T. ParsonsiD· 2 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amanda B. SpurdleORCID

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Author profile →

3 papers

Recent·Most cited

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, Aimee L. Davidson, Tamar R. Berger, Rasim Özgür Rosti, Christian Peter Kratz, Reinhard Kalb, Lisa J. McReynolds, Neelam Giri, Marcy E. Richardson, Tina F. Pesaran, , Amanda B. Spurdle

medRxiv · May 25, 2025 · PreprintGenetic & Genomic Medicine

A Comprehensive and Accessible Model for Co-Segregation Analysis in BRCA1, BRCA2, and PALB2 Variant Classification

Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar Rodríguez‐Girondo

CAL-Leiden is a co-segregation model for BRCA1, BRCA2, and PALB2 variant classification, integrating population data and cancer types to improve pathogenicity assessment.

bioRxiv · Sep 23, 2024 · PreprintGenetics

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, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, Sandrine M. Caputo, Raymond C. Chan, Melissa Cline, Bing Feng, Cristina Fortuño, Encarna B. Gómez-García, Johanna S. Hadler, Susan C. Hiraki, Megan A. Holdren, , 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.

The American Journal of Human Genetics · Aug 13, 2024Peer-reviewedGenetic & Genomic Medicine