Author

Mads Bak

Copenhagen University HospitalORCID 0000-0003-2762-1002Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

A.C. Cullier· 1 shared Adélaïde Brosseau-Beauvir· 1 shared Agnès Guichet· 1 shared Alejandro SifrimiD· 1 shared Alex Vincent PostmaiD· 1 shared Alexandre F.R. StewartiD· 1 shared Alice GoldenbergiD· 1 shared Almuth CaliebeiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A.C. Cullier

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné…·Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

8 citationstop 1%

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintMar 1, 2022

Population-based whole-genome sequencing with constrained gene analysis identifies predisposing germline variants in children with central nervous system tumors

Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen…·Karin Wadt

This study identifies 10% of pediatric CNS tumors as being caused by rare germline variants in known cancer predisposition genes through whole-genome sequencing and evolutionary constraint analysis.

2 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