| Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation FL Zhong, O Mamaï, L Sborgi, L Boussofara, R Hopkins, K Robinson, ... Cell 167 (1), 187-202. e17, 2016 | 392 | 2016 |
| Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma E Pohler, O Mamai, J Hirst, M Zamiri, H Horn, T Nomura, AD Irvine, ... Nature genetics 44 (11), 1272-1276, 2012 | 100 | 2012 |
| Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients A Amara, L Adala, IB Charfeddine, O Mamaï, A Mili, TB Lazreg, D H’mida, ... european journal of paediatric neurology 16 (2), 167-174, 2012 | 55 | 2012 |
| Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family IB Charfeddine, FG Riepe, N Kahloul, AE Kulle, L Adala, O Mamaï, ... General and comparative endocrinology 175 (3), 514-518, 2012 | 32 | 2012 |
| Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III A Mili, I Ben Charfeddine, O Mamaï, W Cherif, L Adala, A Amara, ... Journal of human genetics 57 (3), 170-175, 2012 | 29 | 2012 |
| ENPP1 mutation causes recessive Cole disease by altering melanogenesis M Chourabi, MS Liew, S Lim, DHB Brahim, L Boussofara, L Dai, PM Wong, ... Journal of Investigative Dermatology 138 (2), 291-300, 2018 | 27 | 2018 |
| Enhanced TGF-β signaling contributes to the insulin-induced angiogenic responses of endothelial cells EH Budi, O Mamai, S Hoffman, RJ Akhurst, R Derynck Iscience 11, 474-491, 2019 | 26 | 2019 |
| Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions O Mamaï, L Boussofara, M Denguezli, N Escande-Beillard, W Kraeim, ... The Journal of investigative dermatology 135 (1), 304, 2015 | 25 | 2015 |
| Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian … H Ghédir, M Gribaa, O Mamaî, I Ben Charfeddine, A Braham, A Amara, ... Journal of assisted reproduction and genetics 32, 1651-1658, 2015 | 17 | 2015 |
| TGFβ: Signaling Blockade for Cancer Immunotherapy 2 Szu-Ying Chen,1 Ons Mamäi,1 and Rosemary J. Akhurst1 Annual Review of Cancer Biology 6 (https://doi.org/10.1146/annurev-cancerbi), 2022 | 11 | 2022 |
| Reduction of palmoplantar keratoderma Buschke–Fischer–Brauer locus to only 0.967 Mb O Mamaï, L Boussofara, L Adala, A Amara, IB Charfeddine, N Ghariani, ... Journal of Dermatological Science 67 (3), 210-212, 2012 | 9* | 2012 |
| Enhanced TGF-β signaling contributes to the insulin-induced angiogenic responses of endothelial cells. iScience 11 EH Budi, O Mamai, S Hoffman, RJ Akhurst, R Derynck | 7 | 2019 |
| A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect A Mili, I Ben Charfeddine, A Amara, O Mamaï, L Adala, T Ben Lazreg, ... Clinical genetics 82 (6), 534-539, 2012 | 7 | 2012 |
| Étude clinique et génétique de la kératodermie palmoplantaire de Buschke-Fischer-Brauer dans une famille tunisienne I El Amri, O Mamai, N Ghariani, M Denguezli, B Sriha, L Adala, A Saad, ... Annales de dermatologie et de vénéréologie 137 (4), 269-275, 2010 | 6 | 2010 |
| Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family I El Amri, O Mamai, N Ghariani, M Denguezli, B Sriha, L Adala, A Saad, ... Annales de Dermatologie et de Venereologie 137 (4), 269-275, 2010 | 6 | 2010 |
| Frequency of HNF4A-P. I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus A Amara, IB Charfeddine, H Ghédir, O Mamaï, S Jemni-Yacoub, L Chaieb, ... Iranian Journal of Public Health 44 (3), 396, 2015 | 3 | 2015 |
| The YAP/TAZ antagonist, PTPN14, stabilizes SMAD4 through direct interactions in endothelial cells: Implications for Hereditary Hemorrhagic Telangiectasia O Mamai, DT Beleford, M Taylor, S Basu, X Cen, S Trilok, J Zhang, ... bioRxiv, 2021.09. 29.462397, 2021 | 1 | 2021 |
| From prevention to cure, repurposing anti-viral vaccines for cancer immunotherapy O Mamaï, E Dodagatta-Marri, RJ Akhurst Biotarget 2, 2018 | 1 | 2018 |
| Genetic study in a tunisian family revealed IVS1+ 1G> A mutation in the CHM gene. B Charfeddine, B Lazreg, A Amara, O Mamaï, L Knani, A Mili, A M'sakni, ... Annales de Biologie Clinique 73 (4), 469-473, 2015 | 1 | 2015 |
| Haploinsufficiency for alpha-and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma E Pohler, O Mamai, J Hirst, M Zamiri, H Horn, AD Irvine, T Nomura, ... Journal of Investigative Dermatology 132, 589-599, 2012 | 1 | 2012 |
