NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

por Dittwald, Piotr, Gambin, Tomasz, Szafranski, Przemyslaw, Li, Jian, Amato, Stephen, Divon, Michael Y., Rodríguez Rojas, Lisa Ximena, Elton, Lindsay E., Scott, Daryl A., Schaaf, Christian P., Torres-Martinez, Wilfredo, Stevens, Abby K., Rosenfeld, Jill A., Agadi, Satish, Francis, David, Kang, Sung-Hae L., Breman, Amy, Lalani, Seema R., Bacino, Carlos A., Bi, Weimin, Milosavljevic, Aleksandar, Beaudet, Arthur L., Patel, Ankita, Shaw, Chad A., Lupski, James R., Gambin, Anna, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado 2013

Identification of novel candidate disease genes from de novo exonic copy number variants

por Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G., Matalon, Reuben, Emrick, Lisa, Proud, Monica B., Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R., Nugent, Kimberly M., Bader, Patricia I., Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E., Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P., Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L., Lalani, Seema R., Bacino, Carlos A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Patel, Ankita, Shaw, Chad A., Stankiewicz, Paweł
Publicado 2017