Mads Bak

6PUBLICATIONS
173CO-AUTHORS
Neurology and neuromuscular diseasesCancer geneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Mar 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 Cogne

|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Aug 15, 2025
Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.

Ulrik Kristoffer Stoltze, Thomas van Overeem Hansen, Jon Foss-Skiftesvik

|Jan 27, 2023
DNA methylation signature classification of rare disorders using publicly available methylation data.

Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj

|Apr 15, 2022
9p21.3 Microdeletion involving <i>CDKN2A/2B</i> in a young patient with multiple primary cancers and review of the literature.

Marlene Richter Jensen, Ulrik Stoltze, Thomas Van Overeem Hansen

|Jul 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Enrique Audain, Anna Wilsdon, Jeroen Breckpot

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Frequent Collaborators

3 joint publications

Zeynep Tümer

2 joint publications

David Scheie

2 joint publications

Nicolas Chatron

2 joint publications

Tina Duelund Hjortshøj