Author

Caroline Maria Kolvenbach

Boston Children's HospitalORCID 0000-0003-2789-2654Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:mouse· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Friedhelm HildebrandtiD· 3 shared Florian BuergeriD· 2 shared Shirlee ShriliD· 2 shared Aaron A. HoskinsiD· 1 shared Ahmed I. MarwaniD· 1 shared Aida M. S. SalemiD· 1 shared Alan R. ShuldineriD· 1 shared Ali G. GharaviiD· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersDevelopmental Biology

Friedhelm HildebrandtORCID

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3 papers

Recent·Most cited

Developmental BiologybioRxivPreprintAug 30, 2025

A kidney specific mouse model to study the effects of in vivo induction of Yamanaka factors

Katharina Lemberg, Gijs A. C. Franken, Korbinian Maria Riedhammer…·Friedhelm Hildebrandt

This study investigates the effects of in vivo induction of Yamanaka factors (OKS) in a kidney-specific mouse model to enhance tissue repair after acute kidney injury, finding that while feasible, it carries risks of oncogenic transformation.

DOI 10.1101/2025.08.30.672899

mouseexperimental assay

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GeneticsbioRxivPreprintJul 16, 2025

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

Lea Maria Merz, Shirlee Shril, Tucker J. Carrocci…·Friedhelm Hildebrandt

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

1 citation

humanmouse

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Genetic & Genomic MedicineNaturePeer-reviewedMar 26, 2025

The contribution of de novo coding mutations to meningomyelocele

Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang…·Joseph G. Gleeson

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

16 citationstop 1%

humanstatistical model

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