Mathis Hildonen

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 15

Top Venues

Genes

European journal of human genetics : EJHG

Clinical genetics

University of Copenhagen (MSC)

This page only lists publications with an associated author ORCID identifier.

Education History

University of Copenhagen

Denmark

MSC

Publications

Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG (2024)
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke S Møller, Andrea Ciolfi, Tartaglia Marco, Zeynep Tümer
DNA methylation signature classification of rare disorders using publicly available methylation data. Clinical genetics (2023)
Victoria A Bjerregaard, Amanda M Levy, Mille S Batz, Ravina Salehi, Mathis Hildonen, Trine B Hammer, Rikke S Møller, Claus Desler, Zeynep Tümer
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome. Genes 14 (2) (2023)
Victoria A Bjerregaard, Amanda M Levy, Mille S Batz, Ravina Salehi, Mathis Hildonen, Trine B Hammer, Rikke S Møller, Claus Desler, Zeynep Tümer
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome. Genes 14 (2) (2023)
Victoria A Bjerregaard, Amanda M Levy, Mille S Batz, Ravina Salehi, Mathis Hildonen, Trine B Hammer, Rikke S Møller, Claus Desler, Zeynep Tümer
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome. Genes 14 (2) (2023)
Victoria A Bjerregaard, Amanda M Levy, Mille S Batz, Ravina Salehi, Mathis Hildonen, Trine B Hammer, Rikke S Møller, Claus Desler, Zeynep Tümer
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome. Genes 14 (2) (2023)
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke Steensjerre Moller, Andrea Ciolfi, Tartaglia Marco, Zeynep Tümer
DNA methylation signature classification of rare disorders using publicly available methylation data. Clinical genetics (2023)
Astrid Rasmussen, Mathis Hildonen, John Vissing, Morten Duno, Zeynep Tümer, Ulf Birkedal
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1. Genes 13 (6) (2022)
Mathis Hildonen, Amanda M Levy, Christine Søholm Hansen, Jonas Bybjerg-Grauholm, Axel Skytthe, Nanette Marinette Monique Mol Debes, Qihua Tan, Zeynep Tümer
EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder. Genes 12 (10) (2021)
Mathis Hildonen, Amanda M Levy, Christina Dahl, Victoria A Bjerregaard, Lisbeth Birk Møller, Per Guldberg, Nanette M Debes, Zeynep Tümer
Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome. Genes 12 (1) (2021)
Mathis Hildonen, Kirsten Lykke Knak, Morten Dunø, John Vissing, Zeynep Tümer
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1. Genes 11 (8) (2020)

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Publication Activity (10 Years)

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Mathis Hildonen