Point-of-care whole-exome sequencing of idiopathic male infertility von 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

Volltext

Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population von 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

Volltext

Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar von 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

Volltext

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes von 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

Volltext

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors von 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.

Volltext

Type 2 Diabetes Risk Allele Loci in the Qatari Population von 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

Volltext

Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population von 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

Volltext

Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry von Hassan, Kamal, Robay, Amal, Al-Maraghi, Aljazi, Nimeri, Nuha, Azzam, Asmaa Basheer, Al Shakaki, Alya, Hamid, Eman, Crystal, Ronald G, Fakhro, Khalid A

Volltext

Correction: Type 2 Diabetes Risk Allele Loci in the Qatari Population von 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

Volltext

Ethical Deliberations on the Gene-Editing CRISPR-Cas9 Designer Babies: Islamic Perspective von Al Shakaki, Alya

Volltext

Metabolic and Metabo-Clinical Signatures of Type 2 Diabetes, Obesity, Retinopathy, and Dyslipidemia von 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

Volltext

The Qatar genome: a population-specific tool for precision medicine in the Middle East von Fakhro, Khalid A, Staudt, Michelle R, Ramstetter, Monica Denise, Robay, Amal, Malek, Joel A, Badii, Ramin, Al-Marri, Ajayeb Al-Nabet, Khalil, Charbel Abi, Al-Shakaki, Alya, Chidiac, Omar, Stadler, Dora, Zirie, Mahmoud, Jayyousi, Amin, Salit, Jacqueline, Mezey, Jason G, Crystal, Ronald G, Rodriguez-Flores, Juan L

Volltext

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype von 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

Volltext

The Qatar Genome: A Population-Specific Tool for Precision Medicine in the Middle East von 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

Volltext

Additional file 1: Table S1. of Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype von Fadda, Abeer, Fiza Butt, Tomei, Sara, Deola, Sara, Lo, Bernice, Robay, Amal, Al-Shakaki, Alya, Al-Hajri, Noor, Crystal, Ronald, Kambouris, Marios, Wang, Ena, Marincola, Francesco, Fakhro, Khalid, Cugno, Chiara

Volltext bestellen