Publications by authors named "Mathis Hildonen"

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Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.
Mathis Hildonen, Luca Mariani, Jonas Dalsberg, Mads Bak, Rosanna Weksberg

Clin Genet· November 2025

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Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam

Eur J Hum Genet· July 2025

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Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.
Mathis Hildonen, Marco Ferilli, Ilona Krey, Oona Kohnen, Camilla Cappelletti

Clin Genet· June 2025

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DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Mathis Hildonen

Eur J Hum Genet· July 2024

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Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.
Ulrik Kristoffer Stoltze, Mathis Hildonen, Thomas Van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen

J Med Genet· September 2023

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DNA methylation signature classification of rare disorders using publicly available methylation data.
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom

Clin Genet· June 2023

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Involvement of Mitochondrial Dysfunction in Syndrome.
Victoria A Bjerregaard, Amanda M Levy, Mille S Batz, Ravina Salehi, Mathis Hildonen

Genes (Basel)· January 2023

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High Resolution Analysis of Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
Astrid Rasmussen, Mathis Hildonen, John Vissing, Morten Duno, Zeynep Tümer

Genes (Basel)· May 2022

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EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder.
Mathis Hildonen, Amanda M Levy, Christine Søholm Hansen, Jonas Bybjerg-Grauholm, Axel Skytthe

Genes (Basel)· September 2021

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Elevated Expression of Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome.
Mathis Hildonen, Amanda M Levy, Christina Dahl, Victoria A Bjerregaard, Lisbeth Birk Møller

Genes (Basel)· January 2021

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Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of in Patients with Myotonic Dystrophy Type 1.
Mathis Hildonen, Kirsten Lykke Knak, Morten Dunø, John Vissing, Zeynep Tümer

Genes (Basel)· August 2020

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A comparison of storage methods for gut microbiome studies in teleosts: Insights from rainbow trout (Oncorhynchus mykiss).
Mathis Hildonen, Miyako Kodama, Lara C Puetz, M Thomas P Gilbert, Morten T Limborg

J Microbiol Methods· May 2019

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