| ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 107 | 2017 |
| Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia FM Vaz, JH McDermott, M Alders, SB Wortmann, S Kölker, ... Brain 142 (11), 3382-3397, 2019 | 92 | 2019 |
| In vivo repopulating activity emerges at the onset of hematopoietic specification during embryonic stem cell differentiation S Pearson, S Cuvertino, M Fleury, G Lacaud, V Kouskoff Stem Cell Reports 4 (3), 431-444, 2015 | 64 | 2015 |
| A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome S Cuvertino, V Hartill, A Colyer, T Garner, N Nair, L Al-Gazali, N Canham, ... Genetics in Medicine 22 (5), 867-877, 2020 | 51 | 2020 |
| Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine V Faundes, MD Jennings, S Crilly, S Legraie, SE Withers, S Cuvertino, ... Nature communications 12 (1), 833, 2021 | 43 | 2021 |
| The MET oncogene transforms human primary bone‐derived cells into osteosarcomas by targeting committed osteo‐progenitors N Dani, M Olivero, K Mareschi, MM Van Duist, S Miretti, S Cuvertino, ... Journal of Bone and Mineral Research 27 (6), 1322-1334, 2012 | 35 | 2012 |
| Emerging concepts for the in vitro derivation of murine haematopoietic stem and progenitor cells E Garcia‐Alegria, S Menegatti, K Batta, S Cuvertino, M Florkowska, ... FEBS letters 590 (22), 4116-4125, 2016 | 13 | 2016 |
| Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder RJ Tinker, GJ Burghel, S Garg, M Steggall, S Cuvertino, S Banka American Journal of Medical Genetics Part A 185 (1), 196-202, 2021 | 12 | 2021 |
| SOX7-enforced expression promotes the expansion of adult blood progenitors and blocks B-cell development S Cuvertino, G Lacaud, V Kouskoff Open biology 6 (7), 160070, 2016 | 10 | 2016 |
| Germline intergenic duplications at Xq26. 1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome Y Liu, S Banka, Y Huang, J Hardman‐Smart, D Pye, A Torrelo, ... British Journal of Dermatology 187 (6), 948-961, 2022 | 5 | 2022 |
| KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation M Gabriele, A Vitriolo, S Cuvertino, MF Pereira, C Franconi, PL Germain, ... bioRxiv, 2021.04. 22.440945, 2021 | 4 | 2021 |
| SOX7 promotes the maintenance and proliferation of B cell precursor acute lymphoblastic cells S Cuvertino, G Filiciotto, A Masurekar, V Saha, G Lacaud, V Kouskoff Oncotarget 8 (39), 64974, 2017 | 4 | 2017 |
| Effect of a retinoic acid analogue on BMP-driven pluripotent stem cell chondrogenesis FE Mancini, PEA Humphreys, S Woods, N Bates, S Cuvertino, ... Scientific Reports 14 (1), 2696, 2024 | 1 | 2024 |
| Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome S Cuvertino, V Hartill, A Colyer, T Garner, N Nair, L Al-Gazali, N Canham, ... Genetics in Medicine 22 (5), 980-980, 2020 | 1 | 2020 |
| P21. 006. B Cell organization and organ development defects in Kabuki-KMT2D mutant stem cells S Cuvertino, E Martirosian, T Garner, I Donaldson, A Stevens, ... European Journal of Human Genetics 32 (Supplement 1), 721-722, 2024 | | 2024 |
| Analysis of higher order interactions quantifies co-ordination in the epigenome and reveals novel biological relationships in Kabuki syndrome S Cuvertino, T Garner, E Martirosian, B Walusimbi, SJ Kimber, S Banka, ... bioRxiv, 2024.03. 11.584387, 2024 | | 2024 |
| Hypernetwork analysis: A novel approach for epigenome analysis, with Kabuki syndrome as an exemplar E Martirosian, S Cuvertino, T Garner, B Walusimbi, S Kimber, S Banka, ... Endocrine Abstracts 95, 2023 | | 2023 |
| C04. 2 Genetic and mechanistic dissection of non-muscle actinopathies caused by ACTB or ACTG1 variants N Di Donato, A Thom, M Seifert, J Greve, I Kreimer, MS Kropp, I Niehaus, ... European Journal of Human Genetics 31, 16-17, 2023 | | 2023 |
| Germline intergenic duplications at Xq26. 1 cause an inherited basal cell carcinoma susceptibility syndrome Y Liu, S Banka, Y Huang, J Hardman, D Pye, A Torrelo, G Beaman, ... European Journal of Human Genetics 31, 555-555, 2023 | | 2023 |
| Impaired eIF5A function causes a novel developmental syndrome partially rescued in model systems by spermidine V Faundes, S Crilly, S Legraie, S Cuvertino, AE Fry, V Harrison, J Amiel, ... European Journal of Human Genetics 30 (SUPPL 1), 23-23, 2022 | | 2022 |
