SARS-CoV-2 tracking in Tunisia through next-generation sequencing: lessons for the future

door Rebai, Ahmed, Souissi, Amal, Abid, Nabil, Masmoudi, Saber
Gepubliceerd in EuroMediterr J Environ Integr (2021)

Transcriptomic Analysis of the Developing and Adult Mouse Cochlear Sensory Epithelia

door Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
Gepubliceerd in 2012

Correction: Transcriptomic analysis of the developing and adult mouse cochlear sensory epithelia

door Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
Gepubliceerd in PLoS One (2020)

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

door Belguith, Hanen, Masmoudi, Saber, Medlej-Hashim, Myrna, Chouery, Eliane, Weil, Dominique, Ayadi, Hammadi, Petit, Christine, Mégarbané, André
Gepubliceerd in 2009

CDH23 Methylation Status and Presbycusis Risk in Elderly Women

door Bouzid, Amal, Smeti, Ibtihel, Chakroun, Amine, Loukil, Salma, Gibriel, Abdullah Ahmed, Grati, Mhamed, Ghorbel, Abdelmonem, Masmoudi, Saber
Gepubliceerd in Front Aging Neurosci (2018)

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

door Ben-Rebeh, Imen, Grati, Mhamed, Bonnet, Crystel, Bouassida, Walid, Hadjamor, Imen, Ayadi, Hammadi, Ghorbel, Abdelmonem, Petit, Christine, Masmoudi, Saber
Gepubliceerd in Mol Vis (2016)

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

door Hadj-Kacem, Hassen, Kallel, Rihab, Belguith-Maalej, Salima, Mnif, Mouna, Charfeddine, Ilhem, Ghorbel, Abdelmounem, Abid, Mohamed, Ayadi, Hammadi, Masmoudi, Saber
Gepubliceerd in 2010

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

door Ben Rebeh, Imen, Morinière, Madeleine, Ayadi, Leila, Benzina, Zeineb, Charfedine, Ilhem, Feki, Jamel, Ayadi, Hammadi, Ghorbel, Abdelmonem, Baklouti, Faouzi, Masmoudi, Saber
Gepubliceerd in 2010

Long-term Clinical Follow-up and Molecular Testing for Diagnosis of the First Tunisian Family with Alström Syndrome

door Chakroun, Amine, Ben said, Mariem, Ennouri, Amine, Achour, Imen, Mnif, Mouna, Abid, Mohamed, Ghorbel, Abdelmonem, Marshall, Jan D, Naggert, Jürgen K, Masmoudi, Saber
Gepubliceerd in Eur J Med Genet (2016)

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis

door Bouzid, Amal, Tekari, Adel, Jbeli, Fida, Chakroun, Amine, Hansdah, Kirtal, Souissi, Amal, Singh, Neha, Mosrati, Mohamed Ali, Achour, Imen, Ghorbel, Abdelmonem, Charfeddine, Ilhem, Ramchander, Puppala Venkat, Masmoudi, Saber
Gepubliceerd in BMC Med Genet (2020)

High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

door Saïd, Mariem Ben, Hmani-Aifa, Mounira, Amar, Imen, Baig, Shahid Mahmood, Mustapha, Mirna, Delmaghani, Sedigheh, Tlili, Abdelaziz, Ghorbel, Abdelmonem, Ayadi, Hammadi, Van Camp, Guy, Smith, Richard J.H., Tekin, Mustafa, Masmoudi, Saber
Gepubliceerd in 2010

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

door Grati, M'hamed, Chakchouk, Imen, Ma, Qi, Bensaid, Mariem, Desmidt, Alexandra, Turki, Nouha, Yan, Denise, Baanannou, Aissette, Mittal, Rahul, Driss, Nabil, Blanton, Susan, Farooq, Amjad, Lu, Zhongmin, Liu, Xue Zhong, Masmoudi, Saber
Gepubliceerd in Hum Mol Genet (2015)

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

door Souissi, Amal, Ben Said, Mariem, Ben Ayed, Ikhlas, Elloumi, Ines, Bouzid, Amal, Mosrati, Mohamed Ali, Hasnaoui, Mehdi, Belcadhi, Malek, Idriss, Nabil, Kamoun, Hassen, Gharbi, Nourhene, Gibriel, Abdullah A., Tlili, Abdelaziz, Masmoudi, Saber
Gepubliceerd in J Adv Res (2021)

Identification of candidate regions for a novel Usher syndrome type II locus

door Ben Rebeh, Imen, Benzina, Zeineb, Dhouib, Houria, Hadjamor, Imen, Amyere, Mustapha, Ayadi, Leila, Turki, Khalil, Hammami, Bouthaina, Kmiha, Noureddine, Kammoun, Hassen, Hakim, Bochra, Charfedine, Ilhem, Vikkula, Miikka, Ghorbel, Abdelmonem, Ayadi, Hammadi, Masmoudi, Saber
Gepubliceerd in 2008

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

door Chakchouk, Imen, Grati, M’hamed, Bademci, Guney, Bensaid, Mariem, Ma, Qi, Chakroun, Amine, Foster, Joseph, Yan, Denise, Duman, Duygu, Diaz-Horta, Oscar, Ghorbel, Abdelmonem, Mittal, Rahul, Farooq, Amjad, Tekin, Mustafa, Masmoudi, Saber, Liu, Xue Zhong
Gepubliceerd in Mol Genet Genomics (2015)

MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform

door Grati, M’hamed, Yan, Denise, Raval, Manmeet H., Walsh, Tom, Ma, Qi, Chakchouk, Imen, Kannan-Sundhari, Abhiraami, Mittal, Rahul, Masmoudi, Saber, Blanton, Susan H., Tekin, Mustafa, King, Mary-Claire, Yengo, Christopher M., Liu, Xue Zhong
Gepubliceerd in Hum Mutat (2016)

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

door Ben Said, Mariem, Grati, M’hamed, Ishimoto, Takahiro, Zou, Bing, Chakchouk, Imen, Ma, Qi, Yao, Qi, Hammami, Bouthaina, Yan, Denise, Mittal, Rahul, Nakamichi, Noritaka, Ghorbel, Abdelmonem, Neng, Lingling, Tekin, Mustafa, Shi, Xiao Rui, Kato, Yukio, Masmoudi, Saber, Lu, Zhongmin, Hmani, Mounira, Liu, Xuezhong
Gepubliceerd in Hum Genet (2016)

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

door Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine
Gepubliceerd in Am J Hum Genet (2017)

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

door Ahmed, Zubair M, Masmoudi, Saber, Kalay, Ersan, Belyantseva, Inna A, Mosrati, Mohamed Ali, Collin, Rob W J, Riazuddin, Saima, Hmani-Aifa, Mounira, Venselaar, Hanka, Kawar, Mayya N, Abdelaziz, Tlili, van der Zwaag, Bert, Khan, Shahid Y, Ayadi, Leila, Riazuddin, S Amer, Morell, Robert J, Griffith, Andrew J, Charfedine, Ilhem, Çaylan, Refik, Oostrik, Jaap, Karaguzel, Ahmet, Ghorbel, Abdelmonem, Riazuddin, Sheikh, Friedman, Thomas B, Ayadi, Hammadi, Kremer, Hannie
Gepubliceerd in 2008

Spectrum of DNA variants for nonsyndromic deafness in a large cohort from multiple continents

door Yan, Denise, Tekin, Demet, Bademci, Guney, Foster, Joseph, Cengiz, F. Basak, Kannan-Sundhari, Abhiraami, Guo, Shengru, Mittal, Rahul, Zou, Bing, Grati, Mhamed, Kabahuma, Rosemary I., Kameswaran, Mohan, Lasisi, Taye J, Adedeji, Waheed A, Lasisi, Akeem O., Menendez, Ibis, Herrera, Marianna, Carranza, Claudia, Maroofian, Reza, Crosby, Andrew H., Bensaid, Mariem, Masmoudi, Saber, Behnam, Mahdiyeh, Mojarrad, Majid, Feng, Yong, Duman, Duygu, Mawla, Alex M., Nord, Alex S., Blanton, Susan H., Liu, Xuezhong, Tekin, Mustafa
Gepubliceerd in Hum Genet (2016)