Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Por Paciorkowski, Alex R, Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L, Bukshpun, Polina, Gabriel, Stacy B, Gleeson, Joseph G, Sherr, Elliott H, Dobyns, William B
Publicado em 2013

Quality control and quality assurance in genotypic data for genome-wide association studies

Por Laurie, Cathy C., Doheny, Kimberly F., Mirel, Daniel B., Pugh, Elizabeth W., Bierut, Laura J., Bhangale, Tushar, Boehm, Frederick, Caporaso, Neil E., Cornelis, Marilyn C., Edenberg, Howard J., Gabriel, Stacy B., Harris, Emily L., Hu, Frank B., Jacobs, Kevin, Kraft, Peter, Landi, Maria Teresa, Lumley, Thomas, Manolio, Teri A., McHugh, Caitlin, Painter, Ian, Paschall, Justin, Rice, John P., Rice, Kenneth M., Zheng, Xiuwen, Weir, Bruce S.
Publicado em 2010

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Por Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, El Din Mahmoud, Iman Gamal, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.
Publicado em 2014