| 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 | 99 | 2022 |
| Diagnostic utility of genome-wide DNA methylation analysis in mendelian neurodevelopmental disorders S Haghshenas, P Bhai, E Aref-Eshghi, B Sadikovic International journal of molecular sciences 21 (23), 9303, 2020 | 31 | 2020 |
| 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 | 29 | 2022 |
| 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 | 20 | 2022 |
| Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome MJA Weerts, K Lanko, FJ Guzmán-Vega, A Jackson, R Ramakrishnan, ... Genetics in Medicine 23 (11), 2122-2137, 2021 | 20 | 2021 |
| 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 | 17 | 2021 |
| Detection of a DNA methylation signature for the intellectual developmental disorder, X-linked, syndromic, armfield type S Haghshenas, MA Levy, J Kerkhof, E Aref-Eshghi, H McConkey, T Balci, ... International journal of molecular sciences 22 (3), 1111, 2021 | 15 | 2021 |
| 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 | 10 | 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 | 9 | 2023 |
| Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome A Foroutan, S Haghshenas, P Bhai, MA Levy, J Kerkhof, H McConkey, ... International journal of molecular sciences 23 (3), 1815, 2022 | 8 | 2022 |
| A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene MR Pérez Baca, EZ Jacobs, L Vantomme, P Leblanc, E Bogaert, ... medRxiv, 2023.05. 22.23289895, 2023 | 7 | 2023 |
| 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 | 6 | 2023 |
| Constructing the Spectrum of Packings and Coverings for the Complete Graph with Stars with up to Five Edges D Dyer, S Haghshenas, N Shalaby Graphs and Combinatorics 32, 943-961, 2016 | 4 | 2016 |
| Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy S Haghshenas, A Foroutan, P Bhai, MA Levy, R Relator, J Kerkhof, ... European Journal of Human Genetics 31 (8), 879-886, 2023 | 3 | 2023 |
| Extending regular edge‐colorings of complete hypergraphs A Bahmanian, S Haghshenas Journal of Graph Theory 94 (1), 59-74, 2020 | 3 | 2020 |
| Partitioning the edge set of a hypergraph into almost regular cycles A Bahmanian, S Haghshenas Journal of Combinatorial Designs 26 (10), 465-479, 2018 | 3 | 2018 |
| Constructing the spectrum of packings and coverings for the complete graph with 4-stars D Dyer, S Haghshenas, N Shalaby J. Combin. Math. Combin. Comput.(to appear), 2016 | 3 | 2016 |
| Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals Q Sabbagh, S Haghshenas, J Piard, C Trouvé, J Amiel, T Attié-Bitach, ... Genetics in Medicine 26 (1), 101007, 2024 | 2 | 2024 |
| Identification of a robust DNA methylation signature for Fanconi anemia D Pagliara, A Ciolfi, L Pedace, S Haghshenas, M Ferilli, MA Levy, E Miele, ... The American Journal of Human Genetics 110 (11), 1938-1949, 2023 | 2 | 2023 |
| On regular set systems containing regular subsystems A Bahmanian, S Haghshenas European Journal of Combinatorics 98, 103393, 2021 | 2 | 2021 |
