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

Por 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
Publicado no BMC Med Genet (2016)

The Qatar genome: a population-specific tool for precision medicine in the Middle East

Por 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
Publicado no Hum Genome Var (2016)

Type 2 Diabetes Risk Allele Loci in the Qatari Population

Por 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.
Publicado no PLoS One (2016)

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

Por 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.
Publicado no PLoS One (2016)