1-Mohamed WKE, Mahfood M, Al Mutery A, Abdallah SH, Tlili A. A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report. Front Genet. 2019 Nov 8;10:1087.
2-Abi Zamer B, Mahfood M, Saleh B, Al Mutery AF, Tlili A. Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family. Ann Hum Genet. 2019 Nov;83(6):472-476.
3-Mahfood M, Kamal Eddine Ahmad Mohamed W, Al Mutery A, Tlili A. Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss. Genet Test Mol Biomarkers. 2019 Mar;23(3):204-208.
4-Dulon D, Papal S, Patni P, Cortese M, Vincent PF, Tertrais M, Emptoz A, Tlili A, Bouleau Y, Michel V, Delmaghani S, Aghaie A, Pepermans E, Alegria-Prevot O, Akil O, Lustig L, Avan P, Safieddine S, Petit C, El-Amraoui A. Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome. J Clin Invest. 2018 Aug 1;128(8):3382-3401.
5-Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet. 2018 Mar 1;27(5):780-798.
6-Tlili A, Fahd Al Mutery A, Mahfood M, Kamal Eddine Ahmad Mohamed W, Bajou K. Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation. PLoS One. 2017 Sep 25;12(9):e0185281. doi: 10.1371/journal.pone.0185281. eCollection 2017. PubMed PMID: 28945813; PubMed Central PMCID: PMC5612695.
7-Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26. PubMed PMID: 18953341; PubMed Central PMCID: PMC3404732.