Mathis Hildonen

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 14 publications

Long-read sequencing resolves TP53 allelic status in myeloid neoplasms.

Long-read sequencing resolves TP53 allelic status in myeloid neoplasms.

Journal: Haematologica
Published: December 30, 2025

Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins.

Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins.

Journal: Genes
Published: November 13, 2025

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

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.

Journal: Clinical genetics
Published: May 15, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG
Published: March 04, 2025

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

Journal: European journal of human genetics : EJHG
Published: November 23, 2023

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.

Journal: Genes
Published: December 19, 2022

DNA methylation signature classification of rare disorders using publicly available methylation data.

DNA methylation signature classification of rare disorders using publicly available methylation data.

Journal: Clinical genetics
Published: December 07, 2022

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Journal: Journal of medical genetics
Published: October 18, 2022

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.

Journal: Genes
Published: March 23, 2022

EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder.

EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder.

Journal: Genes
Published: July 15, 2021

Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome.

Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome.

Journal: Genes
Published: December 21, 2020
Showing 1-12 of 14

Last Updated: 09/26/2026