Author

Anna Sophia Kirstein

University Hospital LeipzigORCID 0000-0002-3554-1902Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Antje GarteniD· 3 shared Diana Le DuciD· 3 shared Johannes R. LemkeiD· 3 shared Linnaeus BundalianiD· 3 shared Akhil VelluvaiD· 2 shared Chen-Ching LiniD· 2 shared Konrad PlatzeriD· 2 shared Rami Abou JamraiD· 2 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Antje GartenORCID

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3 papers

Recent·Most cited

Detecting Monogenic Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals

Robert Künzel, Helene Faust, Linnaeus Bundalian, Matthias Blüher, Mariami Jasaszwili, Anna Sophia Kirstein, Albrecht Kobelt, Antje Körner, Denny Popp, Eric Wenzel, Rami Abou Jamra, Johannes R. Lemke, Torsten Schöneberg, Robert Stein, Antje Garten, Diana Le Duc

This study evaluates the diagnostic yield of monogenic obesity in 521 patients using exome-wide data, finding 5.8% with monogenic obesity and 7.1% with potentially obesogenic variants.

International Journal of Obesity · Jun 16, 2025Peer-reviewedGenetic & Genomic Medicine

The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology

Linnaeus Bundalian, Yin-Yuan Su, Siwei Chen, Akhil Velluva, Anna Sophia Kirstein, Antje Garten, Saskia Biskup, Florian Battke, Dennis Lal, Henrike Heyne, Konrad Platzer, Chen-Ching Lin, Johannes R. Lemke, Diana Le Duc, Epi25 Collaborative

The paper identifies rare genetic variants associated with different epilepsy types, finding the most enrichment in non-acquired focal epilepsy.

medRxiv · Jan 17, 2023 · PreprintGenetic & Genomic Medicine

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

Marek B. Körner, Akhil Velluva, Linnaeus Bundalian, Maximilian Radtke, Chen-Ching Lin, Pia Zacher, Tobias Bartolomaeus, Anna Sophia Kirstein, Achmed Mrestani, Nicole Scholz, Konrad Platzer, Anne‐Christin Teichmann, Julia Hentschel, Tobias Langenhan, Johannes R. Lemke, , Diana Le Duc

The paper identifies altered gene expression patterns in 15q13.3 microdeletion carriers, showing dysregulation of genes involved in brain development and contributing to phenotypic variability.

Scientific Reports · Aug 5, 2022Peer-reviewedGenetic & Genomic Medicine