NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

por Elsaid, Mahmoud F., Ibrahim, Khalid, Chalhoub, Nader, Elsotouhy, Ahmed, El Mudehki, Noora, Abdel Aleem, Alice
Publicado 2017

Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance

por Kumar, Pankaj, Al-Shafai, Mashael, Al Muftah, Wadha Ahmed, Chalhoub, Nader, Elsaid, Mahmoud F, Aleem, Alice Abdel, Suhre, Karsten
Publicado 2014

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

por Aguiar-Pulido, Vanessa, Wolujewicz, Paul, Martinez-Fundichely, Alexander, Elhaik, Eran, Thareja, Gaurav, Abdel Aleem, Alice, Chalhoub, Nader, Cuykendall, Tawny, Al-Zamer, Jamel, Lei, Yunping, El-Bashir, Haitham, Musser, James M., Al-Kaabi, Abdulla, Shaw, Gary M., Khurana, Ekta, Suhre, Karsten, Mason, Christopher E., Elemento, Olivier, Finnell, Richard H., Ross, M. Elizabeth
Publicado 2021

Novel mutations target distinct subgroups of medulloblastoma

por Robinson, Giles, Parker, Matthew, Kranenburg, Tanya A., Lu, Charles, Chen, Xiang, Ding, Li, Phoenix, Timothy N., Hedlund, Erin, Wei, Lei, Zhu, Xiaoyan, Chalhoub, Nader, Baker, Suzanne J., Huether, Robert, Kriwacki, Richard, Curley, Natasha, Thiruvenkatam, Radhika, Wang, Jianmin, Wu, Gang, Rusch, Michael, Hong, Xin, Beckford, Jared, Gupta, Pankaj, Ma, Jing, Easton, John, Vadodaria, Bhavin, Onar-Thomas, Arzu, Lin, Tong, Li, Shaoyi, Pounds, Stanley, Paugh, Steven, Zhao, David, Kawauchi, Daisuke, Roussel, Martine F., Finkelstein, David, Ellison, David W., Lau, Ching C., Bouffet, Eric, Hassall, Tim, Gururangan, Sridharan, Cohn, Richard, Fulton, Robert S., Fulton, Lucinda L., Dooling, David J., Ochoa, Kerri, Gajjar, Amar, Mardis, Elaine R., Wilson, Richard K., Downing, James R., Zhang, Jinghui, Gilbertson, Richard J.
Publicado 2012