| Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome D Dulon, S Papal, P Patni, M Cortese, PFY Vincent, M Tertrais, A Emptoz, ... The Journal of clinical investigation 128 (8), 3382-3401, 2018 | 103 | 2018 |
| Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans ZM Ahmed, S Masmoudi, E Kalay, IA Belyantseva, MA Mosrati, ... Nature genetics 40 (11), 1335-1340, 2008 | 87 | 2008 |
| TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families A Tlili, IB Rebeh, M Aifa-Hmani, H Dhouib, J Moalla, J Tlili-Chouchène, ... Audiology and Neurotology 13 (4), 213-218, 2008 | 62 | 2008 |
| CDC14A phosphatase is essential for hearing and male fertility in mouse and human A Imtiaz, IA Belyantseva, AJ Beirl, C Fenollar-Ferrer, R Bashir, I Bukhari, ... Human molecular genetics 27 (5), 780-798, 2018 | 56 | 2018 |
| GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2–35delG mutation O Abidi, R Boulouiz, H Nahili, M Ridal, MN Alami, A Tlili, H Rouba, ... International journal of pediatric otorhinolaryngology 71 (8), 1239-1245, 2007 | 55 | 2007 |
| High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects MB Saïd, M Hmani-Aifa, I Amar, SM Baig, M Mustapha, S Delmaghani, ... Genetic testing and molecular biomarkers 14 (3), 307-311, 2010 | 48 | 2010 |
| Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non‐syndromic recessive hearing loss A Tlili, I Charfedine, I Lahmar, Z Benzina, B Amor Mohamed, D Weil, ... Human Mutation 25 (5), 503-503, 2005 | 46 | 2005 |
| Mutational analysis of the mitochondrial 12S rRNA and tRNASer (UCN) genes in Tunisian patients with nonsyndromic hearing loss E Mkaouar-Rebai, A Tlili, S Masmoudi, N Louhichi, I Charfeddine, ... Biochemical and biophysical research communications 340 (4), 1251-1258, 2006 | 42 | 2006 |
| Silencing miR-202-3p increases MMP-1 and promotes a brain invasive phenotype in metastatic breast cancer cells R Harati, S Hafezi, A Mabondzo, A Tlili PloS one 15 (10), e0239292, 2020 | 33 | 2020 |
| Loss of miR-101-3p promotes transmigration of metastatic breast cancer cells through the brain endothelium by inducing COX-2/MMP1 signaling R Harati, MG Mohammad, A Tlili, RA El-Awady, R Hamoudi Pharmaceuticals 13 (7), 144, 2020 | 33 | 2020 |
| A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family A Tlili, M Männikkö, I Charfedine, I Lahmar, Z Benzina, M Ben Amor, ... Human Heredity 60 (3), 123-128, 2006 | 33 | 2006 |
| miR-27a-3p regulates expression of intercellular junctions at the brain endothelium and controls the endothelial barrier permeability R Harati, S Hammad, A Tlili, M Mahfood, A Mabondzo, R Hamoudi PLoS One 17 (1), e0262152, 2022 | 28 | 2022 |
| Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13. 3-22.1 S Masmoudi, A Tlili, M Majava, AM Ghorbel, S Chardenoux, A Lemainque, ... European journal of human genetics 11 (2), 185-188, 2003 | 28 | 2003 |
| Mutational analysis of the mitochondrial tRNALeu (UUR) gene in Tunisian patients with mitochondrial diseases E Mkaouar-Rebai, A Tlili, S Masmoudi, N Belguith, I Charfeddine, M Mnif, ... Biochemical and Biophysical Research Communications 355 (4), 1031-1037, 2007 | 26 | 2007 |
| Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss A Tlili, A Al Mutery, W Kamal Eddine Ahmad Mohamed, M Mahfood, ... Genetic testing and molecular biomarkers 21 (11), 686-691, 2017 | 25 | 2017 |
| Founder effect confirmation of c. 241A> G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria NK Jellouli, I Hadj Salem, E Ellouz, Z Kamoun, N Kaabachi, C Triki, ... Journal of human genetics 59 (4), 216-222, 2014 | 25 | 2014 |
| Mutation in gap and tight junctions in patients with non-syndromic hearing loss H Belguith, A Tlili, H Dhouib, IB Rebeh, I Lahmar, I Charfeddine, N Driss, ... Biochemical and biophysical research communications 385 (1), 1-5, 2009 | 23 | 2009 |
| New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss E Mkaouar-Rebai, A Tlili, S Masmoudi, I Charfeddine, F Fakhfakh Biochemical and biophysical research communications 369 (3), 849-852, 2008 | 23 | 2008 |
| Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and … M Tabebi, N Charfi, F Kallabi, O Alila-Fersi, AB Mahmoud, A Tlili, ... Journal of Diabetes and its Complications 31 (1), 253-259, 2017 | 22 | 2017 |
| Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene A Tlili, NH Hentati, R Chaabane, A Gargouri, F Fakhfakh Gene 518 (2), 242-245, 2013 | 21 | 2013 |
