Author

Philip Bufler

Charité – Universitätsmedizin BerlinORCID 0000-0002-5742-8273Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Developmental Biology· 1 Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:clustering· 1 Approach:deep learning· 1

Frequent Co-Authors

Julian WeihsiD· 2 shared Milad RezvaniiD· 2 shared Susanna QuachiD· 2 shared Adrien GuillotiD· 1 shared Alessandra Cardinali· 1 shared Alexandra Marzena Morawiec· 1 shared Alexandra Tibelius· 1 shared Alexej KnausiD· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersDevelopmental Biology

Julian WeihsORCID

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4 papers

Recent·Most cited

Molecular BiologyGenes & DiseasesPeer-reviewedJun 1, 2026

Kidney-specific Wdr72 deletion leads to incomplete distal renal tubular acidosis through impaired V-ATPase B1 subunit localization

Amr Al‐Shebel, Phoebe Mossmann, Sarah Wendlinger…·Verena Klämbt

This study shows that kidney-specific deletion of Wdr72 causes incomplete distal renal tubular acidosis by reducing V-ATPase B1 subunit localization and impairing intercalated cell function.

DOI 10.1016/j.gendis.2026.102288

mouseexperimental assay

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Developmental BiologybioRxivPreprintOct 11, 2024

Fetal Liver-like Organoids Recapitulate Blood-Liver Niche Development and Multipotent Hematopoiesis from Human Pluripotent Stem Cells

Milad Rezvani, Kyle Lewis, Susanna Quach…·Takanori Takebe

5 citations

humanexperimental assay

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Cell BiologybioRxivPreprintOct 10, 2024

Combined stem cell and predictive models reveal flavin cofactors as targets in metabolic liver dysfunction

Julian Weihs, Fatima Baldo, Alessandra Cardinali…·Milad Rezvani

The paper combines stem cell models and computational predictions to identify flavin cofactors as therapeutic targets for metabolic liver dysfunction.

3 citations

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintApr 19, 2023

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

12 citations

humanwhole-exome sequencing

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