Mathis Hildonen[Author] - Search Results

Year	Number of Results
2019	1
2020	1
2021	2
2022	1
2023	3
2024	1

1

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

Hildonen M, Ferilli M, Hjortshøj TD, Dunø M, Risom L, Bak M, Ek J, Møller RS, Ciolfi A, Tartaglia M, Tümer Z. Hildonen M, et al. Clin Genet. 2023 Jun;103(6):688-692. doi: 10.1111/cge.14304. Epub 2023 Feb 6. Clin Genet. 2023. PMID: 36705342

2

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

Stoltze UK, Hildonen M, Hansen TVO, Foss-Skiftesvik J, Byrjalsen A, Lundsgaard M, Pignata L, Grønskov K, Tumer Z, Schmiegelow K, Brok JS, Wadt KAW. Stoltze UK, et al. Among authors: hildonen m. J Med Genet. 2023 Sep;60(9):842-849. doi: 10.1136/jmg-2022-108982. Epub 2023 Apr 5. J Med Genet. 2023. PMID: 37019617 Free PMC article.

3

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.

Bjerregaard VA, Levy AM, Batz MS, Salehi R, Hildonen M, Hammer TB, Møller RS, Desler C, Tümer Z. Bjerregaard VA, et al. Among authors: hildonen m. Genes (Basel). 2023 Jan 17;14(2):246. doi: 10.3390/genes14020246. Genes (Basel). 2023. PMID: 36833172 Free PMC article.

4

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

Rasmussen A, Hildonen M, Vissing J, Duno M, Tümer Z, Birkedal U. Rasmussen A, et al. Among authors: hildonen m. Genes (Basel). 2022 May 28;13(6):970. doi: 10.3390/genes13060970. Genes (Basel). 2022. PMID: 35741732 Free PMC article.

5

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

Hildonen M, Levy AM, Dahl C, Bjerregaard VA, Birk Møller L, Guldberg P, Debes NM, Tümer Z. Hildonen M, et al. Genes (Basel). 2021 Jan 12;12(1):86. doi: 10.3390/genes12010086. Genes (Basel). 2021. PMID: 33445578 Free PMC article.

6

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

Hildonen M, Levy AM, Hansen CS, Bybjerg-Grauholm J, Skytthe A, Debes NM, Tan Q, Tümer Z. Hildonen M, et al. Genes (Basel). 2021 Sep 26;12(10):1510. doi: 10.3390/genes12101510. Genes (Basel). 2021. PMID: 34680906 Free PMC article.

7

A comparison of storage methods for gut microbiome studies in teleosts: Insights from rainbow trout (Oncorhynchus mykiss).

Hildonen M, Kodama M, Puetz LC, Gilbert MTP, Limborg MT. Hildonen M, et al. J Microbiol Methods. 2019 May;160:42-48. doi: 10.1016/j.mimet.2019.03.010. Epub 2019 Mar 16. J Microbiol Methods. 2019. PMID: 30885689

8

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

Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M. Niceta M, et al. Among authors: hildonen m. Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01597-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38528056

9

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1.

Hildonen M, Knak KL, Dunø M, Vissing J, Tümer Z. Hildonen M, et al. Genes (Basel). 2020 Aug 13;11(8):936. doi: 10.3390/genes11080936. Genes (Basel). 2020. PMID: 32823742 Free PMC article.

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