Author

Tamara T. Koopmann

Leiden University Medical CenterORCID 0009-0008-9632-6713Unclaimed 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:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aafke A J Lommerse· 1 shared Arie O. VerkerkiD· 1 shared Arthur A.M. WildeiD· 1 shared Bin Alwi ZilfaliliD· 1 shared Carsten Werner LedereriD· 1 shared Celeste BentoiD· 1 shared Chai‐Ann NgiD· 1 shared ClinGen Hemoglobinopathy Variant Curation Expert Panel· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Aafke A J Lommerse

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 1, 2026

ClinGen Hemoglobinopathy VCEP ACMG/AMP specifications for HBB and HBA2 variant interpretation in thalassemia

Coralea Stephanou, Irene Fylaktou, Hashim Halim‐Fikri…·ClinGen Hemoglobinopathy Variant Curation Expert Panel

The paper develops and validates disease-specific ACMG/AMP variant interpretation specifications for HBB and HBA2 in thalassemia, providing a standardized framework for globin gene variant classification.

DOI 10.64898/2026.10.30.26366794

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsHuman Molecular GeneticsPeer-reviewedOct 19, 2022

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng…·Elisabeth M. Lodder

The paper reclassifies a variant in KCNH2 as a low penetrant likely pathogenic variant for LQTS2 based on biophysical effects and clinical variability.

6 citations

humanexperimental assay

𝕏 PostBluesky