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

by 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 2016

Copy number variations in the genome of the Qatari population

by Fakhro, Khalid A., Yousri, Noha A., Rodriguez-Flores, Juan L., Robay, Amal, Staudt, Michelle R., Agosto-Perez, Francisco, Salit, Jacqueline, Malek, Joel A., Suhre, Karsten, Jayyousi, Amin, Zirie, Mahmoud, Stadler, Dora, Mezey, Jason G., Crystal, Ronald G.
Published 2015

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

by 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
Published 2016

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

by 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 2016

Type 2 Diabetes Risk Allele Loci in the Qatari Population

by 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 2016

De novo mutations in histone modifying genes in congenital heart disease

by Zaidi, Samir, Choi, Murim, Wakimoto, Hiroko, Ma, Lijiang, Jiang, Jianming, Overton, John D., Romano-Adesman, Angela, Bjornson, Robert D., Breitbart, Roger E., Brown, Kerry K., Carriero, Nicholas J., Cheung, Yee Him, Deanfield, John, DePalma, Steve, Fakhro, Khalid A., Glessner, Joseph, Hakonarson, Hakon, Italia, Michael, Kaltman, Jonathan R., Kaski, Juan, Kim, Richard, Kline, Jennie K., Lee, Teresa, Leipzig, Jeremy, Lopez, Alexander, Mane, Shrikant M., Mitchell, Laura E., Newburger, Jane W., Parfenov, Michael, Pe'er, Itsik, Porter, George, Roberts, Amy, Sachidanandam, Ravi, Sanders, Stephan J., Seiden, Howard S., State, Mathew W., Subramanian, Sailakshmi, Tikhonova, Irina R., Wang, Wei, Warburton, Dorothy, White, Peter S., Williams, Ismee A., Zhao, Hongyu, Seidman, Jonathan G., Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Seidman, Christine E., Lifton, Richard P.
Published 2013