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1
von Mette Zeuthen ; Louise Serup Christoffersen ; Mathis Hildonen ; et al.
Haematologica, Vol 999, Iss 1 (2026)
Schlagworte: Diseases of the blood and blood-forming organs; RC633-647.5
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2
von Hildonen, Mathis ; Ciolfi, Andrea ; Ferilli, Marco ; et al.
European Journal of Human Genetics. 33(7):896-903
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von Dalsberg, Jonas ; Jespersgaard, Cathrine ; Levy, Amanda M ; et al.
Dalsberg , J , Jespersgaard , C , Levy , A M , Asplund , A M , Bagger , F O , Debes , N M , Tan , Q , Tümer , Z & Hildonen , M 2026 , ' Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins ' , Genes , vol. 17 , no. 1 , 97 . https://doi.org/10.3390/genes17010097
Schlagworte: Humans; Twins; Monozygotic/genetics; DNA Methylation/genetics; Male; Female; Transcriptome/genetics; Epigenome/genetics; Child; Genome-Wide Association Study; Epigenesis; Genetic; Adolescent; Tourette Syndrome/genetics; Adult; Tic Disorders/genetics
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von Cazalla, Mario ; Parra, Alejandro ; Rodríguez-Antolín, Carlos ; et al.
Clinical Epigenetics. 18(1)
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von Niceta, Marcello ; Ciolfi, Andrea ; Ferilli, Marco ; et al.
European Journal of Human Genetics. 32(7):819-826
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von Hildonen, Mathis ; Ferilli, Marco ; Krey, Ilona ; et al.
Schlagworte: Angelman syndrome; DNAm signature; array; epigenetic; episignature; methylation; undiagnosed
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von Hildonen, Mathis ; Mariani, Luca ; Dalsberg, Jonas ; et al.
Hildonen , M , Mariani , L , Dalsberg , J , Bak , M , Weksberg , R , Choufani , S & Tümer , Z 2026 , ' Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis ' , Clinical Genetics , vol. 109 , no. 4 , pp. 725-729 .
Schlagworte: article
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8
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9
DNA methylation signature classification of rare disorders using publicly available methylation data
von Hildonen, Mathis ; Ferilli, Marco ; Hjortshøj, Tina Duelund ; et al.
Schlagworte: KMT2D; Kabuki syndrome; VUS classification; epigenetic; episignature; mendelian disorder; rare disorders
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von Cazalla, Mario ; Parra, Alejandro ; Rodriguez, Carlos ; et al.
European Journal Of Human Genetics [ISSN 1018-4813], v. 33 sup. 1, p. 882-883, Abstract P15.015.B, (Noviembre 2025).
Schlagworte: 32 Ciencias médicas; 320102 Genética clínica; 2410 Biología humana
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11
von Hildonen, Mathis ; Kodama, Miyako ; Puetz, Lara C. ; et al.
In Journal of Microbiological Methods May 2019 160:42-48
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von Bjerregaard, Victoria A. ; Levy, Amanda M. ; Batz, Mille S. ; et al.
Bjerregaard, V A, Levy, A M, Batz, M S, Salehi, R, Hildonen, M, Hammer, T B, Møller, R S, Desler, C & Tümer, Z 2023, 'Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome', Genes, vol. 14, no. 2, 246. https://doi.org/10.3390/genes14020246
Schlagworte: FOXG1 syndrome; mitochondrial dysfunction; mitochondrial homeostasis; mitochondrial morphology; mitochondrial respiratory capacity; neurodevelopmental disorders
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von Rasmussen, Astrid ; Hildonen, Mathis ; Vissing, John ; et al.
Rasmussen , A , Hildonen , M , Vissing , J , Duno , M , Tümer , Z & Birkedal , U 2022 , ' High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1 ' , Genes , vol. 13 , no. 6 , 970 . https://doi.org/10.3390/genes13060970
Schlagworte: Cas9; diagnostics; DM1; epigenetics; long-read sequencing; methylation; Oxford nanopore
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von Hildonen, Mathis ; Levy, Amanda M. ; Dahl, Christina ; et al.
Hildonen, M, Levy, A M, Dahl, C, Bjerregaard, V A, Møller, L B, Guldberg, P, Debes, N M & Tümer, Z 2021, 'Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in gilles de la tourette syndrome', Genes, vol. 12, no. 1, 86, pp. 1-10. https://doi.org/10.3390/genes12010086
Schlagworte: 5-HTT; Expression; Gilles de la Tourette syndrome; GTS; Methylation; Obsessive compulsive disorder; OCD; Serotonin; SERT; SLC6A4
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von Hildonen, Mathis ; Levy, Amanda M. ; Hansen, Christine Søholm ; et al.
Hildonen, M, Levy, A M, Hansen, C S, Bybjerg-Grauholm, J, Skytthe, A, Debes, N M, Tan, Q & Tümer, Z 2021, 'EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder', Genes, vol. 12, no. 10, 1510. https://doi.org/10.3390/genes12101510
Schlagworte: Chronic tic disorder; Epigenetics; Gilles de la Tourette syndrome; GTS; Methylation; Monozygotic twins; MTOR; Tic spectrum disorder; Tics; TSC1
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von Niceta, Marcello ; Ciolfi, Andrea ; Ferilli, Marco ; et al.
Niceta , M , Ciolfi , A , Ferilli , M , Pedace , L , Cappelletti , C , Nardini , C , Hildonen , M , Chiriatti , L , Miele , E , Dentici , M L , Gnazzo , M , Cesario , C , Pisaneschi , E , Baban , A , Novelli , A , Maitz , S , Selicorni , A , Squeo , G M , Merla , G , Dallapiccola , B , Tumer , Z , Digilio , M C , Priolo , M & Tartaglia , M 2024 , ' DNA methylation profiling in Kabuki syndrome : reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism ' , European Journal of Human Genetics , vol. 32 , no. 7 , pp. 819-826 .
Schlagworte: article
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von Hildonen, Mathis ; Knak, Kirsten Lykke ; Dunø, Morten ; et al.
Hildonen , M , Knak , K L , Dunø , M , Vissing , J & Tümer , Z 2020 , ' Stable longitudinal methylation levels at the CpG sites flanking the CTG repeat of DMPK in patients with myotonic dystrophy type 1 ' , Genes , vol. 11 , no. 8 , 936 , pp. 1-13 . https://doi.org/10.3390/genes11080936
Schlagworte: Biomarker; Blood; Epigenetics; Genetics; Inheritance; Muscle; Repeat; Trinucleotide
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20
von Levy, Amanda M. ; Hildonen, Mathis ; Dahl, Christina ; et al.
Levy, A M, Hildonen, M, Dahl, C, Bjerregaard, V A, Moller, L B, Guldberg, P, Debes, N M & Tumer, Z 2022, 'Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in Gilles de la Tourette syndrome', European Journal of Human Genetics, vol. 30, no. Suppl. 1, P09.061.B, pp. 279. < https://www.nature.com/articles/s41431-021-01026-1 >
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von Bjerregaard, Victoria A. ; Levy, Amanda M. ; Hildonen, Mathis ; et al.
Bjerregaard, V A, Levy, A M, Hildonen, M, Moller, R S, Hammer, T B & Tumer, Z 2022, 'Mitochondrial dysfunction in FOXG1 syndrome', European Journal of Human Genetics, vol. 30, no. Suppl. 1, C01.5, pp. 25. < https://www.nature.com/articles/s41431-021-01025-2.pdf >
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von Stoltze, Ulrik ; Hildonen, Mathis ; Brok, Jesper ; et al.
Stoltze, U, Hildonen, M, Brok, J, Hansen, T, Lundsgaard, M, Grønskov, K, Tumer, Z, Schmiegelow, K & Wadt, K 2022, 'COMPREHENSIVE GERMLINE GENOMICS OF PATIENTS WITH WILMS TUMOR REVEALS A HIGH LEVEL OF PREDISPOSITION IN FEMALES', Pediatric Blood & Cancer, vol. 69, no. Suppl. 5, O142 / #1892, pp. S67.
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23
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24
von Stoltze, Ulrik Kristoffer ; Hildonen, Mathis ; Hansen, Thomas Van Overeem ; et al.
Stoltze , U K , Hildonen , M , Hansen , T V O , Foss-Skiftesvik , J , Byrjalsen , A , Lundsgaard , M , Pignata , L , Grønskov , K , Tumer , Z , Schmiegelow , K , Brok , J S & Wadt , K A W 2023 , ' Germline (epi)genetics reveals high predisposition in females : a 5-year, nationwide, prospective Wilms tumour cohort ' , Journal of Medical Genetics , vol. 60 , no. 9 , pp. 842-849 .
Schlagworte: article
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25
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