Author

Florian Buerger

Boston Children's HospitalORCID 0000-0003-2655-387XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:mouse· 4 Approach:experimental assay· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Friedhelm HildebrandtiD· 4 shared Caroline Maria KolvenbachiD· 2 shared Katharina LembergiD· 2 shared Ken SaidaiD· 2 shared Lea Maria MerziD· 2 shared Aaron A. HoskinsiD· 1 shared Alexander Rubin· 1 shared Alexis C. GomeziD· 1 shared

Activity by Year

2020-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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4 shared papersGenetics

Friedhelm HildebrandtORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedNov 27, 2025

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment

Florian Buerger, Daanya Salmanullah, Lorrin Liang…·Amar J. Majmundar

This study identifies recessive variants in the NOS1AP-C1orf226 intergenic locus causing monogenic kidney disease and shows responsiveness to anti-proteinuric treatment.

5 citations

mousebulk RNA-seq

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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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GeneticsJournal of the American Society of NephrologyPeer-reviewedMay 7, 2020

ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2,4-dihydroxybenzoic acid treatment

Eugen Widmeier, Seyoung Yu, Anish Nag…·Heon Yung Gee

This study shows ADCK4 deficiency causes CoQ10 deficiency and mitochondrial dysfunction in podocytes, which is rescued by 2,4-dihydroxybenzoic acid treatment.

60 citations

mouseexperimental assay

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