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1. Genome Tunisia Project: paving the way for precision medicine in North Africa

Author

Hamdi, Yosr, Trabelsi, Mediha, Ghedira, Kais, Boujemaa, Maroua, Ben Ayed, Ikhlas, Charfeddine, Cherine, Souissi, Amal, Rejeb, Imen, Kammoun Rebai, Wafa, Hkimi, Chaima, Neifar, Fadoua, Jandoubi, Nouha, Mkaouar, Rahma, Chaouch, Melek, Bennour, Ayda, Kamoun, Selim, Chaker Masmoudi, Hend, Abid, Nabil, Mezghani Khemakhem, Maha, Masmoudi, Saber, Saad, Ali, BenJemaa, Lamia, BenKahla, Alia, Boubaker, Samir, Mrad, Ridha, Kamoun, Hassen, Abdelhak, Sonia, Gribaa, Moez, Belguith, Neila, Kharrat, Najla, Hmida, Dorra, and Rebai, Ahmed

Published
2024
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3. A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium

Author

Hamdi, Yosr, primary, Boujemaa, Maroua, additional, Ben Aissa-Haj, Jihenne, additional, Radouani, Fouzia, additional, Khyatti, Meriem, additional, Mighri, Najah, additional, Hannachi, Mariem, additional, Ghedira, Kais, additional, Souiai, Oussema, additional, Hkimi, Chaima, additional, Kammoun, Mohamed Selim, additional, Mejri, Nesrine, additional, Bouaziz, Hanen, additional, Beloufa, Mohamed Amine, additional, Charoute, Hicham, additional, Barakat, Abdelhamid, additional, Najjar, Imène, additional, Taniguchi, Hiroaki, additional, Pietrosemoli, Natalia, additional, benider, Abdellatif, additional, El-hamouchi, Adil, additional, Sonia, AIT YOUNES, additional, Kahla, Alia Ben, additional, Abdelmalik, AMIMER, additional, Zine, AMIR, additional, Jaballah, Amira, additional, Louiza, Amira, additional, GIHBID, Amina, additional, Achouak, BACHIR, additional, Djihad, BELABDI, additional, Said, BELHADEF, additional, Rafika, BELNOUI, additional, Ayed, Belarbi, additional, Nadia, Benchakroune, additional, Nadia, Benchakroun, additional, Meriem, BENINAL, additional, Radja, BENKALI, additional, Asma, BENSIHAMDI, additional, Hichem, BENYOUCEF, additional, Thouraya, BENDIMRED, additional, Nadir, Bensouf, additional, Rafika, BENNOUI, additional, Yosra, Berrazegua, additional, Latefa, Biskri, additional, Saida, BOUAOUNI, additional, Meriem, BOUANIKA, additional, Abderezzak, Bouamra, additional, Hanen, Bouaziz, additional, Zohra, Boudinar Fatma, additional, Sabrina, Bouhara, additional, Nadir, Boussouf, additional, Saber, Boutayeb, additional, Adda, BOUNEDJAR, additional, Omar, Chabati, additional, Cherine, Charfeddine, additional, Dalia, Chilla, additional, Mehemmai, Chiraz, additional, Bouabid, Cyrine, additional, Souad, Dahnane, additional, Soraya, DIAB, additional, Adlane, Dib Hocine, additional, Wider, Dorra, additional, Fawzi, DERRAR, additional, Amina, ELKEBOUB, additional, Hicham, EL ATTAR, additional, Elmostafa, EL FAHIME, additional, Djazia, ELHADEF, additional, Fehri, Emna, additional, Hakkou, Farid, additional, Hadjam, Farida, additional, Mamboisse, Fanny, additional, Widad, GAIS, additional, Merzak, GHARNAOUT, additional, Nidhal, Guessoum Amir, additional, Farida, HADJAM, additional, SAHRAOUI, HADJ, additional, Rachdi, Haifa, additional, Yaiche, Hamza, additional, Leila, HANNACHI, additional, Mahfouf, Hassan, additional, Bouguerra, Hend, additional, Attar, Hicham El, additional, Hassine, Hichem Ben, additional, Filali, Houda, additional, Harmak, Houda, additional, Kanaane, Houda, additional, Benamri, Ichrak, additional, Alami, Imane El, additional, Reda, KASSA, additional, Bendahhou, Karima, additional, Errafii, Khaoula, additional, Bairi, Khalid El, additional, Wafaa, Khaali, additional, Mehdi, KARKOURI, additional, Maria, Kabbage, additional, Wafa, Kammoun, additional, Houda, Kanaane, additional, Reda, Kassa, additional, Narimane, LAOUAR, additional, Biskri, Latefa, additional, Amira, Louiza, additional, Marie, Louise, additional, Chevalier, Charion, additional, Nabila, MALOUM, additional, Monot, Marc, additional, Saadi, Mariem, additional, Campone, Mario, additional, Mrad, Mehdi, additional, KARKOURI, MEHDI, additional, Mohamed, MELIZI, additional, Saadi, Meriem, additional, CHAHER, Meriem, additional, Ardhaoui, Monia, additional, TALEB, Mourad, additional, Jmiaa, Nadia Ben, additional, Benchakroun, Nadia, additional, Hadhri, Najet, additional, SALHI, Nawel, additional, Taoufiq, Nezha, additional, Jandoubi, Nouha, additional, Wahiba, OUAHIOUNE, additional, Salima, OULDSLIMANE, additional, BELNOUI, Rafika, additional, Louiza, Rahman Amira, additional, Benkhalifa, Rym, additional, Boutaib, Saber, additional, Boutayeb, Saber, additional, Menif, Samia, additional, OULDSLIMANE, Salima, additional, Valcke, Samuel, additional, Assia, SLIMANI, additional, Nasr, Sonia Ben, additional, Maatoug, Sonia, additional, Younes, Sonia Ait, additional, BENCHEHIDA, Souad, additional, BEKOUACI, Souad, additional, Sahraoui, Souha, additional, Hassiba, Tali Maamar, additional, Soraya, Talha, additional, Mourad, TALEB, additional, Fella, TERKMANI, additional, Soraya, TALHA, additional, Wassila, TOUISI, additional, Kammoun, Wafa, additional, OUAHIOUNE, Wahiba, additional, Berrazegua, Yosra, additional, Amel, ZEMMOUR, additional, Sarah, ZEROUAL, additional, AMIR, Zine Charif, additional, Zouafi, Zineb, additional, Dellagi, Koussay, additional, Abdelhak, Sonia, additional, Boubaker, Mohamed Samir, additional, Chica, Claudia, additional, and Rouleau, Etienne, additional

Published
2024
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4. Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families

Author

Boujemaa, Maroua, primary, Nouira, Fatma, additional, Jandoubi, Nouha, additional, Mejri, Nesrine, additional, Bouaziz, Hanen, additional, Charfeddine, Cherine, additional, Ben Nasr, Sonia, additional, Labidi, Soumaya, additional, El Benna, Houda, additional, Berrazega, Yosra, additional, Rachdi, Haifa, additional, Daoud, Nouha, additional, Benna, Farouk, additional, Haddaoui, Abderrazek, additional, Abdelhak, Sonia, additional, Samir Boubaker, Mohamed, additional, Boussen, Hamouda, additional, and Hamdi, Yosr, additional

Published
2024
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5. A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium

Author

benider, Abdellatif, El-hamouchi, Adil, Sonia, AIT YOUNES, Kahla, Alia Ben, Abdelmalik, AMIMER, Zine, AMIR, charif, Jaballah, Amira, Louiza, Amira, GIHBID, Amina, Achouak, BACHIR, Djihad, BELABDI, Said, BELHADEF, Rafika, BELNOUI, Ayed, Belarbi, Nadia, Benchakroune, Nadia, Benchakroun, Meriem, BENINAL, Radja, BENKALI, Asma, BENSIHAMDI, Hichem, BENYOUCEF, Thouraya, BENDIMRED, Nadir, Bensouf, Rafika, BENNOUI, Yosra, Berrazegua, Latefa, Biskri, Saida, BOUAOUNI, Meriem, BOUANIKA, Abderezzak, Bouamra, Hanen, Bouaziz, Zohra, Boudinar Fatma, Sabrina, Bouhara, Nadir, Boussouf, Saber, Boutayeb, Adda, BOUNEDJAR, Omar, Chabati, Cherine, Charfeddine, Dalia, Chilla, Mehemmai, Chiraz, Bouabid, Cyrine, Souad, Dahnane, Soraya, DIAB, Adlane, Dib Hocine, Wider, Dorra, Fawzi, DERRAR, Amina, ELKEBOUB, Hicham, EL ATTAR, Elmostafa, EL FAHIME, Djazia, ELHADEF, Fehri, Emna, Hakkou, Farid, Hadjam, Farida, Mamboisse, Fanny, Widad, GAIS, Merzak, GHARNAOUT, Nidhal, Guessoum Amir, Farida, HADJAM, SAHRAOUI, HADJ, Rachdi, Haifa, Yaiche, Hamza, Leila, HANNACHI, Mahfouf, Hassan, Bouguerra, Hend, Attar, Hicham El, Hassine, Hichem Ben, Filali, Houda, Harmak, Houda, Kanaane, Houda, Benamri, Ichrak, Alami, Imane El, Reda, KASSA, Bendahhou, Karima, Errafii, Khaoula, Bairi, Khalid El, Wafaa, Khaali, Mehdi, KARKOURI, Maria, Kabbage, Wafa, Kammoun, Houda, Kanaane, Reda, Kassa, Narimane, LAOUAR, Biskri, Latefa, Amira, Louiza, Marie, Louise, Chevalier, Charion, Nabila, MALOUM, Monot, Marc, Saadi, Mariem, Campone, Mario, Mrad, Mehdi, KARKOURI, MEHDI, Mohamed, MELIZI, Saadi, Meriem, CHAHER, Meriem, Ardhaoui, Monia, TALEB, Mourad, Jmiaa, Nadia Ben, Benchakroun, Nadia, Hadhri, Najet, SALHI, Nawel, Taoufiq, Nezha, Jandoubi, Nouha, Wahiba, OUAHIOUNE, Salima, OULDSLIMANE, BELNOUI, Rafika, Louiza, Rahman Amira, Benkhalifa, Rym, Boutaib, Saber, Boutayeb, Saber, Menif, Samia, OULDSLIMANE, Salima, Valcke, Samuel, Assia, SLIMANI, Nasr, Sonia Ben, Maatoug, Sonia, Younes, Sonia Ait, BENCHEHIDA, Souad, BEKOUACI, Souad, Sahraoui, Souha, Hassiba, Tali Maamar, Soraya, Talha, Mourad, TALEB, Fella, TERKMANI, Soraya, TALHA, Wassila, TOUISI, Kammoun, Wafa, OUAHIOUNE, Wahiba, Berrazegua, Yosra, Amel, ZEMMOUR, Sarah, ZEROUAL, AMIR, Zine Charif, Zouafi, Zineb, Hamdi, Yosr, Boujemaa, Maroua, Ben Aissa-Haj, Jihenne, Radouani, Fouzia, Khyatti, Meriem, Mighri, Najah, Hannachi, Mariem, Ghedira, Kais, Souiai, Oussema, Hkimi, Chaima, Kammoun, Mohamed Selim, Mejri, Nesrine, Bouaziz, Hanen, Beloufa, Mohamed Amine, Charoute, Hicham, Barakat, Abdelhamid, Najjar, Imène, Taniguchi, Hiroaki, Pietrosemoli, Natalia, Dellagi, Koussay, Abdelhak, Sonia, Boubaker, Mohamed Samir, Chica, Claudia, and Rouleau, Etienne

Published
2024
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6. Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Author

Mkaouar, Rahma, Riahi, Zied, Marrakchi, Jihene, Mezzi, Nessrine, Romdhane, Lilia, Boujemaa, Maroua, Dallali, Hamza, Sayeb, Marwa, Lahbib, Saida, Jaouadi, Hager, Boudabbous, Hela, Zekri, Lotfi, Chargui, Mariem, Messaoud, Olfa, Elyounsi, Meriem, Kraoua, Ichraf, Zaouak, Anissa, Turki, Ilhem, Mokni, Mourad, and Boucher, Sophie

Subjects
DEAFNESS, USHER'S syndrome, HEARING disorders, PHENOTYPES, MOLECULAR diagnosis, META-analysis
Abstract

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by clinical and genetic heterogeneity. This study aimed to uncover the SD spectrum through a 14-year investigation of a Tunisian cohort encompassing over 700 patients from four referral centers (2007-2021). Employing Sanger sequencing, Targeted Panel Gene Sequencing, and Whole Exome Sequencing, genetic analysis in 30 SD patients identified diagnoses such as Usher syndrome, Waardenburg syndrome, cranio-facial-hand-deafness syndrome, and H syndrome. This latter is a rare genodermatosis characterized by HI, hyperpigmentation, hypertrichosis, and systemic manifestations. A meta-analysis integrating our findings with existing data revealed that nearly 50% of Tunisian SD cases corresponded to rare inherited metabolic disorders. Distinguishing between non-syndromic and syndromic HI poses a challenge, where the age of onset and progression of features significantly impact accurate diagnoses. Despite advancements in local genetic characterization capabilities, certain ultra-rare forms of SD remain underdiagnosed. This research contributes critical insights to inform molecular diagnosis approaches for SD in Tunisia and the broader North-African region, thereby facilitating informed decision-making in clinical practice. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Association between epidemiological and clinico-pathological features of breast cancer with prognosis, family history, Ki-67 proliferation index and survival in Tunisian breast cancer patients

Author

Mighri, Najah, primary, Mejri, Nesrine, additional, Boujemaa, Maroua, additional, Berrazega, Yosra, additional, Rachdi, Haifa, additional, El Benna, Houda, additional, Labidi, Soumaya, additional, Benna, Farouk, additional, Boubaker, Samir, additional, Boussen, Hamouda, additional, Abdelhak, Sonia, additional, and Hamdi, Yosr, additional

Published
2022
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10. African Genomic Medicine Portal: A Web Portal for Biomedical Applications

Author

Othman, Houcemeddine, primary, Zass, Lyndon, additional, da Rocha, Jorge E. B., additional, Radouani, Fouzia, additional, Samtal, Chaimae, additional, Benamri, Ichrak, additional, Kumuthini, Judit, additional, Fakim, Yasmina J., additional, Hamdi, Yosr, additional, Mezzi, Nessrine, additional, Boujemaa, Maroua, additional, Okeke, Chiamaka Jessica, additional, Tendwa, Maureen B., additional, Sanak, Kholoud, additional, Chaouch, Melek, additional, Panji, Sumir, additional, Kefi, Rym, additional, Sallam, Reem M., additional, Ghoorah, Anisah W., additional, Romdhane, Lilia, additional, Kiran, Anmol, additional, Meintjes, Ayton P., additional, Maturure, Perceval, additional, Jmel, Haifa, additional, Ksouri, Ayoub, additional, Azzouzi, Maryame, additional, Farahat, Mohammed A., additional, Ahmed, Samah, additional, Sibira, Rania, additional, Turkson, Michael E. E., additional, Ssekagiri, Alfred, additional, Parker, Ziyaad, additional, Fadlelmola, Faisal M., additional, Ghedira, Kais, additional, Mulder, Nicola, additional, and Kamal Kassim, Samar, additional

Published
2022
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11. Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers

Author

Hamdi, Yosr, primary, Mighri, Najah, additional, Boujemaa, Maroua, additional, Mejri, Nesrine, additional, Ben Nasr, Sonia, additional, Ben Rekaya, Mariem, additional, Messaoud, Olfa, additional, Bouaziz, Hanen, additional, Berrazega, Yosra, additional, Rachdi, Haifa, additional, Jaidane, Olfa, additional, Daoud, Nouha, additional, Zribi, Aref, additional, Ayari, Jihene, additional, El Benna, Houda, additional, Labidi, Soumaya, additional, Ben Hassouna, Jamel, additional, Haddaoui, Abderazzek, additional, Rahal, Khaled, additional, Benna, Farouk, additional, Mrad, Ridha, additional, Ben Ahmed, Slim, additional, Boussen, Hamouda, additional, Boubaker, Samir, additional, and Abdelhak, Sonia, additional

Published
2021
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12. Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology

Author

Hamdi, Yosr, primary, Boujemaa, Maroua, additional, Mighri, Najah, additional, Mejri, Nesrine, additional, Jaidane, Olfa, additional, Ben Nasr, Sonia, additional, Bouaziz, Hanen, additional, Hassouna, Jamel Ben, additional, Zribi, Aref, additional, Berrazaga, Yossra, additional, Rachdi, Haifa, additional, Daoud, Nouha, additional, El Benna, Houda, additional, Labidi, Soumaya, additional, Haddaoui, Abderrazek, additional, Rahal, Khaled, additional, Benna, Farouk, additional, Boussen, Hamouda, additional, Abdelhak, Sonia, additional, and Boubaker, Samir, additional

Published
2021
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13. Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia

Author

Boujemaa, Maroua, primary, Hamdi, Yosr, additional, Mejri, Nesrine, additional, Romdhane, Lilia, additional, Ghedira, Kais, additional, Bouaziz, Hanen, additional, El Benna, Houda, additional, Labidi, Soumaya, additional, Dallali, Hamza, additional, Jaidane, Olfa, additional, Ben Nasr, Sonia, additional, Haddaoui, Abderrazek, additional, Rahal, Khaled, additional, Abdelhak, Sonia, additional, Boussen, Hamouda, additional, and Boubaker, Mohamed Samir, additional

Published
2021
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14. Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients

Author

Mighri, Najah, primary, Hamdi, Yosr, additional, Boujemaa, Maroua, additional, Othman, Houcemeddine, additional, Ben Nasr, Sonia, additional, El Benna, Houda, additional, Mejri, Nesrine, additional, Labidi, Soumaya, additional, Ayari, Jihen, additional, Jaidene, Olfa, additional, Bouaziz, Hanen, additional, Ben Rekaya, Mariem, additional, M’rad, Ridha, additional, Haddaoui, Abderrazek, additional, Rahal, Khaled, additional, Boussen, Hamouda, additional, Boubaker, Samir, additional, and Abdelhak, Sonia, additional

Published
2020
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15. Whole exome sequencing reveals a combination of rare high and low penetrance variants that correlates with familial breast cancer relative risk

Author

rekaya, Mariem Ben, primary, Hamdi, Yosr, additional, Benna, Houda El, additional, Mejri, Nessrine, additional, Jaidane, Olfa, additional, Ayari, Jihene, additional, Nasr, Sonia Ben, additional, Dallali, Hamza, additional, Messaoud, Olfa, additional, Meddeb, Rym, additional, Mighri, Najah, additional, Boujemaa, Maroua, additional, Boubaker, Mohamed Samir, additional, Haddaoui, Abderazek, additional, Mrad, Ridha, additional, Boussen, Hamouda, additional, Abdelhak, Sonia, additional, and Labidi, Soumaya, additional

Published
2020
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16. Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Author

Mkaouar R, Riahi Z, Marrakchi J, Mezzi N, Romdhane L, Boujemaa M, Dallali H, Sayeb M, Lahbib S, Jaouadi H, Boudabbous H, Zekri L, Chargui M, Messaoud O, Elyounsi M, Kraoua I, Zaouak A, Turki I, Mokni M, Boucher S, Petit C, Giraudet F, Mbarek C, Besbes G, Halayem S, Zainine R, Turki H, Tounsi A, Bonnet C, Mrad R, Abdelhak S, Trabelsi M, and Charfeddine C

Abstract

[This corrects the article DOI: 10.3389/fgene.2024.1384094.]., (Copyright © 2024 Mkaouar, Riahi, Marrakchi, Mezzi, Romdhane, Boujemaa, Dallali, Sayeb, Lahbib, Jaouadi, Boudabbous, Zekri, Chargui, Messaoud, Elyounsi, Kraoua, Zaouak, Turki, Mokni, Boucher, Petit, Giraudet, Mbarek, Besbes, Halayem, Zainine, Turki, Tounsi, Bonnet, Mrad, Abdelhak, Trabelsi and Charfeddine.)

Published
2024
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17. Oral Communication Abstracts of the 18th Pan Arab Cancer Congress. TUNISIA. April 19-21, 2018.

Author

Benna M, Slimane M, Smaoui W, Syrjanen K, Belaid A, Bouaziz H, Hechiche M, Benna F, Rahal K, Benhami M, El Kinany H, Ouahbi H, Amadour L, Ahllali I, Ben Brahim Z, Elmrabet FZ, Arifi S, Mellas N, Hashem W, Abd-Elkader Y, Mokrani A, Shehata MA, Baker El Khouly EA, Elkady NM, Yahyaoui Y, Meddeb K, Letaif F, Chraiet N, Ayadi M, Melzi A, Kessi Nora N, Abdelmalik F, Elfageih MA, Abdeljaoued S, Goucha A, El Mokh H, Ben Hassouna J, Gamoudi A, Ben Rekaya M, Hamdi Y, Laabidi S, Jaidane O, Ben Nasr S, Elbenna H, Mejri N, Daoud N, Ayari J, Balti M, Mighri N, Boujemaa M, Haddaoui A, Boussen H, Abdelhak S, Mashhour K, Safwat E, Kouadri N, Filali T, Tawfik EA, Elagizy HA, Berrazaga Y, Mokrani A, Gabsi A, Raies H, Melzi A, Derbouz Z, Henni Manseur S, Bounedjar A, Elrgig M, Abdalla AB, Bettaieb I, Adouni O, Bouzaiene H, and Rahal K

Published
2018

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