Author

Gregor Dombrowsky

University Hospital Schleswig-HolsteinORCID 0000-0003-2591-2682Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:gene regulatory network inference· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 2 Assay:bulk RNA-seq· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Enrique AudainiD· 4 shared Jeroen BreckpotiD· 4 shared Alejandro SifrimiD· 3 shared Anna WilsdoniD· 3 shared J. David BrookiD· 3 shared Marc‐Phillip HitziD· 3 shared Alex Vincent PostmaiD· 2 shared Anne‐Karin KahlertiD· 2 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Enrique AudainORCID

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4 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 2, 2026

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study

Enrique Audain, Anna Wilsdon, Gregor Dombrowsky…·Marc‐Phillip Hitz

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 14, 2024

A validated heart-specific model for splice-disrupting variants in childhood heart disease

Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester…·Seema R. Mital

The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.

11 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsPLoS GeneticsPeer-reviewedJul 29, 2021

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

Enrique Audain, Anna Wilsdon, Jeroen Breckpot…·MP Hitz

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

35 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 11, 2019

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

José M. G. Izarzugaza, Sabrina Gade Ellesøe, Canan Doğanlı…·Søren Brunak

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.

1 citation

humanzebrafish

𝕏 PostBluesky