Author

Alexander Mordhorst

Charité – Universitätsmedizin BerlinORCID 0009-0003-4447-0338Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam KlocperkiD· 1 shared Adam S.L. GraefeiD· 1 shared Alexander J.M. DingemansiD· 1 shared Andrés Caballero-OteyzaiD· 1 shared Angela MarcelloiD· 1 shared Bert B A De VriesiD· 1 shared Catharina SchuetziD· 1 shared Chris MungalliD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam KlocperkORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedDec 23, 2025

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

Lauren Rekerle, Daniel Danis, Filip Rehburg…·Peter N. Robinson

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

DOI 10.1016/j.ajhg.2025.12.001

humanGWAS summary statistics

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