| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 127 | 2022 |
| Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... Human mutation 43 (11), 1609-1628, 2022 | 46 | 2022 |
| DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome LC Schenkel, E Aref-Eshghi, K Rooney, J Kerkhof, MA Levy, H McConkey, ... Clinical epigenetics 13, 1-17, 2021 | 42 | 2021 |
| International clinical placement–Experiences of nursing students’ cultural, personal and professional development; a qualitative study MB Jansen, DW Lund, K Baume, S Lillyman, K Rooney, DS Nielsen Nurse Education in Practice 51, 102987, 2021 | 27 | 2021 |
| SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey, M Levy, ... Genetics in medicine 24 (6), 1261-1273, 2022 | 24 | 2022 |
| Identification of a DNA methylation episignature in the 22q11. 2 deletion syndrome K Rooney, MA Levy, S Haghshenas, J Kerkhof, D Rogaia, MG Tedesco, ... International Journal of Molecular Sciences 22 (16), 8611, 2021 | 22 | 2021 |
| DNA methylation episignatures in neurodevelopmental disorders associated with large structural copy number variants: clinical implications K Rooney, B Sadikovic International Journal of Molecular Sciences 23 (14), 7862, 2022 | 18 | 2022 |
| DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder K Rooney, L van der Laan, S Trajkova, S Haghshenas, R Relator, ... Genetics in Medicine 25 (8), 100871, 2023 | 16 | 2023 |
| DNA methylation episignatures: insight into copy number variation L der Laan, K Rooney, TMA Trooster, MMAM Mannens, B Sadikovic, ... Epigenomics 14 (21), 1373-1388, 2022 | 16 | 2022 |
| SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability E Bogaert, A Garde, T Gautier, K Rooney, Y Duffourd, P LeBlanc, ... The American Journal of Human Genetics 110 (5), 790-808, 2023 | 13 | 2023 |
| Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome L van der Laan, K Rooney, M Alders, R Relator, H McConkey, J Kerkhof, ... International journal of molecular sciences 23 (22), 13664, 2022 | 13 | 2022 |
| DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome EA Verberne, L van der Laan, S Haghshenas, K Rooney, MA Levy, ... International journal of molecular sciences 23 (14), 8001, 2022 | 13 | 2022 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Adv. 3, 100075 MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... | 7 | 2021 |
| Analysis of sequence and copy number variants in Canadian patient cohort with familial cancer syndromes using a unique next generation sequencing based approach P Bhai, MA Levy, K Rooney, DA Carere, J Reilly, J Kerkhof, M Volodarsky, ... Frontiers in genetics 12, 698595, 2021 | 4 | 2021 |
| DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants L van der Laan, P Lauffer, K Rooney, A Silva, S Haghshenas, R Relator, ... Human Genetics and Genomics Advances 5 (3), 2024 | 3 | 2024 |
| Identification of the DNA methylation signature of Mowat-Wilson syndrome SG Caraffi, L van der Laan, K Rooney, S Trajkova, R Zuntini, R Relator, ... European Journal of Human Genetics, 1-11, 2024 | 3 | 2024 |
| DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7 L van der Laan, K Karimi, K Rooney, P Lauffer, H McConkey, P Caro, ... Genetics in medicine 26 (3), 101050, 2024 | 2 | 2024 |
| DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity S Trajkova, J Kerkhof, MR Sebastiano, L Pavinato, E Ferrero, C Giovenino, ... Human Genetics and Genomics Advances 5 (3), 2024 | 1 | 2024 |
| Refining the 9q34. 3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile D Rots, K Rooney, R Relator, J Kerkhof, H McConkey, R Pfundt, ... Clinical genetics 105 (6), 655-660, 2024 | 1 | 2024 |
| The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes N Vos, S Haghshenas, L van der Laan, PKM Russel, K Rooney, MA Levy, ... Human Genetics, 1-13, 2024 | 1 | 2024 |
