Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

por Mendiratta, Meenal S, Yang, Yaping, Balazs, Andrea E, Willis, Alecia S, Eng, Christine M, Karaviti, Lefkothea P, Potocki, Lorraine
Publicado 2011

Lysinuric protein intolerance presenting with multiple fractures

por Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee, Brendan H.
Publicado 2014

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

por Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Publicado 2012

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

por Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Choy, Kwong Wai, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Tayoun, Ahmad N. Abou
Publicado 2019