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Dive into the research topics where Mathis Hildonen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis
Hildonen, M., Mariani, L., Dalsberg, J., Bak, M., Weksberg, R., Choufani, S. & Tümer, Z., Apr 2026, In: Clinical Genetics. 109, 4, p. 725-729 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins
Dalsberg, J., Jespersgaard, C., Levy, A. M., Asplund, A. M., Bagger, F. O., Debes, N. M., Tan, Q., Tümer, Z. & Hildonen, M., 18 Jan 2026, In: Genes. 17, 1, 97.Research output: Contribution to journal › Journal article › Research › peer-review
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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
Hildonen, M., Ciolfi, A., Ferilli, M., Cappelletti, C., Al Alam, C., Amor, D. J., Barakat, T. S., Benoit, V., Birk, O. S., Callewaert, B., Cazurro-Gutiérrez, A., De Wachter, M., Doco-Fenzy, M., Gómez-Puertas, P., Hammer, T. B., Jamra, R. A., Kaiyrzhanov, R., Kameyama, S., Keren, B. & Kresge, C. & 21 others, , Jul 2025, In: European journal of human genetics : EJHG. 33, 7, p. 896-903 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling
Hildonen, M., Ferilli, M., Krey, I., Kohnen, O., Cappelletti, C., Platzer, K., Ciolfi, A., Jamra, R. A., Tartaglia, M. & Tümer, Z., Sept 2025, In: Clinical Genetics. 108, 3, p. 369-70 2 p.Research output: Contribution to journal › Letter › peer-review
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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, M. L., Gnazzo, M., Cesario, C., Pisaneschi, E., Baban, A., Novelli, A., Maitz, S., Selicorni, A., Squeo, G. M., Merla, G. & Dallapiccola, B. & 4 others, , Jul 2024, In: European Journal of Human Genetics. 32, 7, p. 819-826 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
8 Citations (Scopus)