A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal

por Cordes Selby, Susan, Iwata‐Otsubo, Aiko, Delk, Paula, Nebesio, Todd D., Gohil, Anisha, Matlock, Peggy, Torres‐Martinez, Wilfredo, Vance, Gail H.
Publicado 2021

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

por Horton, Carolyn, Cass, Ashley, Conner, Blair R., Hoang, Lily, Zimmermann, Heather, Abualkheir, Nelly, Burks, David, Qian, Dajun, Molparia, Bhuvan, Vuong, Huy, LaDuca, Holly, Grzybowski, Jessica, Durda, Kate, Pilarski, Robert, Profato, Jessica, Clayback, Katherine, Mahoney, Martin, Schroeder, Courtney, Torres-Martinez, Wilfredo, Elliott, Aaron, Chao, Elizabeth C., Karam, Rachid
Publicado 2022

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