| SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite C Dion, S Roche, C Laberthonnière, N Broucqsault, V Mariot, S Xue, ... Nucleic acids research 47 (6), 2822-2839, 2019 | 51 | 2019 |
| Multilineage differentiation for formation of innervated skeletal muscle fibers from healthy and diseased human pluripotent stem cells K Mazaleyrat, C Badja, N Broucqsault, R Chevalier, C Laberthonnière, ... Cells 9 (6), 1531, 2020 | 39 | 2020 |
| Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime JD Robin, MS Jacome Burbano, H Peng, O Croce, JL Thomas, ... Aging Cell 19 (3), e13097, 2020 | 37 | 2020 |
| Bring it to an end: does telomeres size matter? C Laberthonnière, F Magdinier, JD Robin Cells 8 (1), 30, 2019 | 29 | 2019 |
| Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy MC Gaillard, N Broucqsault, J Morere, C Laberthonnière, C Dion, C Badja, ... Scientific Reports 9 (1), 10327, 2019 | 19 | 2019 |
| Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism S Roche, C Dion, N Broucqsault, C Laberthonnière, MC Gaillard, ... Neurology: Genetics 5 (6), e372, 2019 | 17 | 2019 |
| Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres C Laberthonnière, EM Novoa‐del‐Toro, M Delourme, R Chevalier, ... Journal of Cachexia, Sarcopenia and Muscle 13 (1), 621-635, 2022 | 10 | 2022 |
| AKT signaling modifies the balance between cell proliferation and migration in neural crest cells from patients affected with Bosma arhinia and microphthalmia syndrome C Laberthonnière, EM Novoa-del-Toro, R Chevalier, N Broucqsault, ... Biomedicines 9 (7), 751, 2021 | 7 | 2021 |
| Generation of the first human in vitro model for McArdle disease based on iPSC technology MC Ortuño-Costela, V Cerrada, A Moreno-Izquierdo, I García-Consuegra, ... International Journal of Molecular Sciences 23 (22), 13964, 2022 | 6 | 2022 |
| Single-Cell RNA Sequencing: opportunities and Challenges for Studies on Corneal Biology in Health and Disease JA Arts, C Laberthonnière, D Lima Cunha, H Zhou Cells 12 (13), 1808, 2023 | 3 | 2023 |
| Multi-omics analyses identify transcription factor interplay in corneal epithelial fate determination and disease JGA Smits, DL Cunha, M Amini, M Bertolin, C Laberthonnière, J Qu, ... bioRxiv, 2022.07. 13.499857, 2022 | 1 | 2022 |
| SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome C Laberthonnière, R Chevalier, C Dion, M Delourme, D Hirst, J Adélaïde, ... bioRxiv, 2021.05. 17.444338, 2021 | 1 | 2021 |
| SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. F Magdinier, L Gerard, M Delourme, B Ganne, P Perrin, C Chaix, JP Trani, ... | | 2024 |
| Identification of the regulatory circuit governing corneal epithelial fate determination and disease JGA Smits, DL Cunha, M Amini, M Bertolin, C Laberthonnière, J Qu, ... PLoS Biology 21 (10), e3002336, 2023 | | 2023 |
| In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype C Laberthonnière, M Delourme, R Chevalier, C Dion, B Ganne, D Hirst, ... Nucleic Acids Research 51 (14), 7269-7287, 2023 | | 2023 |
| Epigenetics, principles and examples of applications C Dion, C Laberthonnière, F Magdinier La Revue de Medecine Interne, S0248-8663 (23) 00674, 2023 | | 2023 |
| Épigénétique, principes et exemples d’applications C Dion, C Laberthonnière, F Magdinier La Revue de Médecine Interne, 2023 | | 2023 |
| 696 A data-driven approach towards mature iPSC-derived keratinocytes L Meesters, C Laberthonnière, R Simons, H Niehues, E van den Bogaard, ... Journal of Investigative Dermatology 143 (5), S120, 2023 | | 2023 |
| 215 Spatial transcriptomics on human epidermal equivalents N Velthuijs, C Laberthonniere, EH van den Bogaard, H Zhou, M Mhlanga Journal of Investigative Dermatology 142 (12), S217, 2022 | | 2022 |
| I. 09 Induced pluripotent stem cells for modeling neuromuscular disorders: development of disease-specific assays, live cells functional testing and drug design M Delourme, C Laberthonnière, S Testa, L Caron, F Magdinier Neuromuscular Disorders 32, S95, 2022 | | 2022 |
