Author

Kristen V. Truxal

Nationwide Children's HospitalORCID 0000-0002-8787-9411Unclaimed 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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Research Focus:gene regulatory network inference· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:spatial domain detection· 1 Approach:statistical model· 1

Frequent Co-Authors

Achille Lolascon· 1 shared Alexander P.A. StegmanniD· 1 shared Alexandre ReymondiD· 1 shared Ana Perez Caballero· 1 shared Anaïs BegemanniD· 1 shared Anand VasudevaniD· 1 shared Andreas Busche· 1 shared Andrée Delahaye‐DurieziD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Achille Lolascon

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GeneticsGenes & DiseasesPeer-reviewedMay 1, 2026

Lipid transport is necessary for neocortical lamination

Jacqueline Chrast, Stephan C. Collins, Catherine Roger…·Alexandre Reymond

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

DOI 10.1016/j.gendis.2026.102257

humanmouse

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintAug 5, 2025

Genotype-Phenotype Correlation in RBM10-Associated Syndromes. How Variant Function Shapes a Broad Phenotypic Landscape

Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor…·Brage Storstein Andresen

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

DOI 10.1101/2025.08.05.25330579

humanstatistical model

𝕏 PostBluesky