| Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents D Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ... Human genetics 135, 953-961, 2016 | 130 | 2016 |
| A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation M Grati, I Chakchouk, Q Ma, M Bensaid, A Desmidt, N Turki, D Yan, ... Human molecular genetics 24 (9), 2482-2491, 2015 | 100 | 2015 |
| 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 |
| 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 |
| Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive … H Belguith, M Aifa-Hmani, H Dhouib, MB Said, MA Mosrati, I Lahmar, ... Genetic Testing and Molecular Biomarkers 13 (1), 147-151, 2009 | 43 | 2009 |
| A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family MB Saïd, L Ayedi, M Mnejja, B Hakim, A Khalfallah, I Charfeddine, ... European journal of medical genetics 54 (6), e535-e541, 2011 | 34 | 2011 |
| A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss … M Ben Said, M Grati, T Ishimoto, B Zou, I Chakchouk, Q Ma, Q Yao, ... Human genetics 135, 513-524, 2016 | 33 | 2016 |
| Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53 I Chakchouk, M Grati, G Bademci, M Bensaid, Q Ma, A Chakroun, J Foster, ... Molecular Genetics and Genomics 290, 1327-1334, 2015 | 31 | 2015 |
| Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene MB Said, E Chouchène, SB Salem, K Daoud, L Largueche, W Bouassida, ... Gene 528 (2), 288-294, 2013 | 22 | 2013 |
| A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 MB Said, M Grati, T Ishimoto, B Zou, I Chakchouk, Q Ma, Q Yao, ... Human genetics 135 (5), 513, 2016 | 21 | 2016 |
| Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population A Souissi, MB Said, IB Ayed, I Elloumi, A Bouzid, MA Mosrati, M Hasnaoui, ... Journal of Advanced Research 31, 13-24, 2021 | 20 | 2021 |
| NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries I Chakchouk, MB Said, F Jbeli, R Benmarzoug, S Loukil, I Smeti, ... The Journal of Molecular Diagnostics 17 (2), 155-161, 2015 | 20 | 2015 |
| Segregation of a new mutation in SLC26A4 and p. E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome MB Said, H Dhouib, Z BenZina, AM Ghorbel, F Moreno, S Masmoudi, ... International Journal of Pediatric Otorhinolaryngology 76 (6), 832-836, 2012 | 19 | 2012 |
| SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition I Ben Ayed, W Ouarda, F Frikha, F Kammoun, A Souissi, M Ben Said, ... American Journal of Medical Genetics Part A 185 (4), 1081-1090, 2021 | 15 | 2021 |
| DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss M Bensaïd, M Hmani-Aifa, B Hammami, A Tlili, B Hakim, I Charfeddine, ... European journal of medical genetics 54 (6), e565-e569, 2011 | 12 | 2011 |
| Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly IB Ayed, W Bouchaala, A Bouzid, W Feki, A Souissi, SB Nsir, MB Said, ... European Journal of Medical Genetics 64 (12), 104373, 2021 | 7 | 2021 |
| Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome A Chakroun, MB Said, A Ennouri, I Achour, M Mnif, M Abid, A Ghorbel, ... European journal of medical genetics 59 (9), 444-451, 2016 | 7 | 2016 |
| Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16. 1-p21 M Ali Mosrati, I Schrauwen, M Ben Saiid, M Aifa-Hmani, E Fransen, ... Journal of human genetics 58 (2), 98-101, 2013 | 7 | 2013 |
| Deep analysis of the LRTOMTc. 242G> A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and … MA Mosrati, K Fadhlaoui‐Zid, A Benammar‐Elgaaied, AA Gibriel, ... Molecular Genetics & Genomic Medicine 9 (10), e1810, 2021 | 3 | 2021 |
| Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene A Souissi, M Ben Said, F Frikha, I Elloumi, S Masmoudi, A Megarbane Genetic Testing and Molecular Biomarkers 25 (8), 528-539, 2021 | 3 | 2021 |
