Point-of-care whole-exome sequencing of idiopathic male infertility
Fakhro, Khalid A, Elbardisi, Haitham, Arafa, Mohamed, Robay, Amal, Rodriguez-Flores, Juan L, Al-Shakaki, Alya, Syed, Najeeb, Mezey, Jason G, Abi Khalil, Charbel, Malek, Joel A, Al-Ansari, Abdulla, Al Said, Sami, Crystal, Ronald G
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Journal Article
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population
Yousri, Noha A, Fakhro, Khalid A, Robay, Amal, Rodriguez-Flores, Juan L, Mohney, Robert P, Zeriri, Hassina, Odeh, Tala, Kader, Sara Abdul, Aldous, Eman K, Thareja, Gaurav, Kumar, Manish, Al-Shakaki, Alya, Chidiac, Omar M, Mohamoud, Yasmin A, Mezey, Jason G, Malek, Joel A, Crystal, Ronald G, Suhre, Karsten
Published in Nature communications (23.01.2018)
Published in Nature communications (23.01.2018)
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Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar
Fakhro, Khalid A, Robay, Amal, Rodrigues-Flores, Juan L, Mezey, Jason G, Al-Shakaki, Alya A, Chidiac, Omar, Stadler, Dora, Malek, Joel A, Imam, Abu Bakr, Sheikh, Arwa, Azzam, Asmaa, Janahi, Ibrahim, Khanjar, Izzat, Osman, Kamal, Ziki, Maen Abu, Mahmah, Mohamed Adnan, Selim, Mohamed, Numeiri, Nuha, Ali, Rehab, Lakhani, Shenela, Butt, Fizza, Omran, Tawfeg Ben, Crystal, Ronald G
Published in Human molecular genetics (01.12.2019)
Published in Human molecular genetics (01.12.2019)
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Journal Article
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes
Guennoun, Andrea, Bougarn, Salim, Khan, Taushif, Mackeh, Rafah, Rahman, Mahbuba, Al-Ali, Fatima, Ata, Manar, Aamer, Waleed, Prosser, Debra, Habib, Tanwir, Chin-Smith, Evonne, Al-Darwish, Khawla, Zhang, Qian, Al-Shakaki, Alya, Robay, Amal, Crystal, Ronald G., Fakhro, Khalid, Al-Naimi, Amal, Al Maslamani, Eman, Tuffaha, Amjad, Janahi, Ibrahim, Janahi, Mohammad, Love, Donald R., Karim, Mohammed Yousuf, Lo, Bernice, Hassan, Amel, Adeli, Mehdi, Marr, Nico
Published in Journal of clinical immunology (01.11.2021)
Published in Journal of clinical immunology (01.11.2021)
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Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors
Rostami, Mahboubeh R., Leopold, Philip L., Vasquez, Jenifer M., de Mulder Rougvie, Miguel, Al Shakaki, Alya, Hssain, Ali Ait, Robay, Amal, Hackett, Neil R., Mezey, Jason G., Crystal, Ronald G.
Published in Molecular therapy. Methods & clinical development (14.12.2023)
Published in Molecular therapy. Methods & clinical development (14.12.2023)
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Journal Article
Type 2 Diabetes Risk Allele Loci in the Qatari Population
O'Beirne, Sarah L, Salit, Jacqueline, Rodriguez-Flores, Juan L, Staudt, Michelle R, Abi Khalil, Charbel, Fakhro, Khalid A, Robay, Amal, Ramstetter, Monica D, Al-Azwani, Iman K, Malek, Joel A, Zirie, Mahmoud, Jayyousi, Amin, Badii, Ramin, Al-Nabet Al-Marri, Ajayeb, Chiuchiolo, Maria J, Al-Shakaki, Alya, Chidiac, Omar, Gharbiah, Maey, Bener, Abdulbari, Stadler, Dora, Hackett, Neil R, Mezey, Jason G, Crystal, Ronald G
Published in PloS one (06.07.2016)
Published in PloS one (06.07.2016)
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Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry
Hassan, Kamal, Robay, Amal, Al-Maraghi, Aljazi, Nimeri, Nuha, Azzam, Asmaa Basheer, Al Shakaki, Alya, Hamid, Eman, Crystal, Ronald G, Fakhro, Khalid A
Published in Cold Spring Harbor molecular case studies (01.02.2022)
Published in Cold Spring Harbor molecular case studies (01.02.2022)
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Journal Article
Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population
O'Beirne, Sarah L, Salit, Jacqueline, Rodriguez-Flores, Juan L, Staudt, Michelle R, Abi Khalil, Charbel, Fakhro, Khalid A, Robay, Amal, Ramstetter, Monica D, Malek, Joel A, Zirie, Mahmoud, Jayyousi, Amin, Badii, Ramin, Al-Nabet Al-Marri, Ajayeb, Bener, Abdulbari, Mahmoud, Mai, Chiuchiolo, Maria J, Al-Shakaki, Alya, Chidiac, Omar, Stadler, Dora, Mezey, Jason G, Crystal, Ronald G
Published in PloS one (13.09.2018)
Published in PloS one (13.09.2018)
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Journal Article
Correction: Type 2 Diabetes Risk Allele Loci in the Qatari Population
O'Beirne, Sarah L, Salit, Jacqueline, Rodriguez-Flores, Juan L, Staudt, Michelle R, Abi Khalil, Charbel, Fakhro, Khalid A, Robay, Amal, Ramstetter, Monica D, Al-Azwani, Iman K, Malek, Joel A, Zirie, Mahmoud, Jayyousi, Amin, Badii, Ramin, Al-Nabet Al-Marri, Ajayeb, Chiuchiolo, Maria J, Al-Shakaki, Alya, Chidiac, Omar, Gharbiah, Maey, Bener, Abdulbari, Stadler, Dora, Hackett, Neil R, Mezey, Jason G, Crystal, Ronald G
Published in PloS one (23.08.2016)
Published in PloS one (23.08.2016)
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Journal Article
Metabolic and Metabo-Clinical Signatures of Type 2 Diabetes, Obesity, Retinopathy, and Dyslipidemia
Yousri, Noha A, Suhre, Karsten, Yassin, Esraa, Al-Shakaki, Alya, Robay, Amal, Elshafei, Maha, Chidiac, Omar, Hunt, Steven C, Crystal, Ronald G, Fakhro, Khalid A
Published in Diabetes (New York, N.Y.) (01.02.2022)
Published in Diabetes (New York, N.Y.) (01.02.2022)
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Journal Article
The Qatar genome: a population-specific tool for precision medicine in the Middle East
Fakhro, Khalid A, Staudt, Michelle R, Ramstetter, Monica Denise, Robay, Amal, Malek, Joel A, Badii, Ramin, Al-Marri, Ajayeb Al-Nabet, Abi Khalil, Charbel, Al-Shakaki, Alya, Chidiac, Omar, Stadler, Dora, Zirie, Mahmoud, Jayyousi, Amin, Salit, Jacqueline, Mezey, Jason G, Crystal, Ronald G, Rodriguez-Flores, Juan L
Published in Human genome variation (30.06.2016)
Published in Human genome variation (30.06.2016)
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Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype
Fadda, Abeer, Butt, Fiza, Tomei, Sara, Deola, Sara, Lo, Bernice, Robay, Amal, Al-Shakaki, Alya, Al-Hajri, Noor, Crystal, Ronald, Kambouris, Marios, Wang, Ena, Marincola, Francesco M, Fakhro, Khalid A, Cugno, Chiara
Published in BMC medical genetics (17.11.2016)
Published in BMC medical genetics (17.11.2016)
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Journal Article
The Qatar Genome: A Population-Specific Tool for Precision Medicine in the Middle East
Fakhro, Khalid A, Staudt, Michelle R, Ramstetter, Monica Denise, Robay, Amal, Malek, Joel A, Badii, Ramin, Ajayeb Al-Nabet Al-Marri, Charbel Abi Khalil, Al-Shakaki, Alya, Chidiac, Omar, Stadler, Dora, Zirie, Mahmoud, Amin Jayyousi, Salit, Jacqueline, Mezey, Jason G, Crystal, Ronald G, Rodriguez-Flores, Juan L
Published in arXiv.org (13.05.2018)
Published in arXiv.org (13.05.2018)
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