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

Tekijä Rebai, Ahmed, Souissi, Amal, Abid, Nabil, Masmoudi, Saber
Julkaisussa EuroMediterr J Environ Integr (2021)

Transcriptomic Analysis of the Developing and Adult Mouse Cochlear Sensory Epithelia

Tekijä Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
Julkaistu 2012

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

Tekijä Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
Julkaisussa PLoS One (2020)

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

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

CDH23 Methylation Status and Presbycusis Risk in Elderly Women

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

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

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

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

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

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

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

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

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

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

Tekijä 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
Julkaisussa 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

Tekijä 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
Julkaistu 2010

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

Tekijä 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
Julkaisussa Hum Mol Genet (2015)

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

Tekijä 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
Julkaisussa J Adv Res (2021)

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

Tekijä 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
Julkaistu 2008

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

Tekijä 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
Julkaisussa Mol Genet Genomics (2015)

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

Tekijä 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
Julkaisussa 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

Tekijä 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
Julkaisussa Hum Genet (2016)

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

Tekijä 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
Julkaisussa Am J Hum Genet (2017)

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

Tekijä 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
Julkaistu 2008

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

Tekijä 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
Julkaisussa Hum Genet (2016)