Mads S. Bak

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 60 publications

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.

Journal: Clinical genetics

Published: October 20, 2025

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG

Published: September 19, 2025

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

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

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

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

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

Journal: Nature genetics

Published: September 02, 2025

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Journal: European journal of medical genetics

Published: April 30, 2025

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

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

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: January 18, 2025

Enhancing Health Innovation and Entrepreneurship Through an Entrepreneurial Fellowship Program.

Enhancing Health Innovation and Entrepreneurship Through an Entrepreneurial Fellowship Program.

Journal: Annals of biomedical engineering

Published: November 20, 2024

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Journal: Clinical genetics

Published: November 12, 2024

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.

Journal: Clinical genetics

Published: October 29, 2024

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.

Journal: Clinical genetics

Published: March 05, 2024

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Journal: Epilepsia

Published: November 27, 2023

Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.

Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.

Journal: American journal of medical genetics. Part A

Published: November 25, 2023

Showing 1-12 of 60

Last Updated: 09/26/2026