TCF7L2 lncRNA: a link between bipolar disorder and body mass index through glucocorticoid signaling

por Liu, Duan, Nguyen, Thanh Thanh Le, Gao, Huanyao, Huang, Huaizhi, Kim, Daniel C., Sharp, Brenna, Ye, Zhenqing, Lee, Jeong-Heon, Coombes, Brandon J., Ordog, Tamas, Wang, Liewei, Biernacka, Joanna M., Frye, Mark A., Weinshilboum, Richard M.
Publicado 2021

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

por Hu, Chunling, Susswein, Lisa R., Roberts, Maegan E., Yang, Hana, Marshall, Megan L., Hiraki, Susan, Berkofsky-Fessler, Windy, Gupta, Sounak, Shen, Wei, Dunn, Carolyn A., Huang, Huaizhi, Na, Jie, Domchek, Susan M., Yadav, Siddhartha, Monteiro, Alvaro N.A., Polley, Eric C., Hart, Steven N., Hruska, Kathleen S., Couch, Fergus J.
Publicado 2022

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

por Hu, Chunling, Nagaraj, Anil Belur, Shimelis, Hermela, Montalban, Gemma, Lee, Kun Y., Huang, Huaizhi, Lumby, Carolyn A., Na, Jie, Susswein, Lisa R., Roberts, Maegan E., Marshall, Megan L., Hiraki, Susan, LaDuca, Holly, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Neuhausen, Susan L., Haiman, Christopher A., Kraft, Peter, Lindstrom, Sara, Palmer, Julie R., Teras, Lauren R., Vachon, Celine M., Yao, Song, Ong, Irene, Nathanson, Katherine L., Weitzel, Jeffrey N., Boddicker, Nicholas, Gnanaolivu, Rohan, Polley, Eric C., Mer, Georges, Cui, Gaofeng, Karam, Rachid, Richardson, Marcy E., Domchek, Susan M., Yadav, Siddhartha, Hruska, Kathleen S., Dolinsky, Jill, Weroha, S. John, Hart, Steven N., Simard, Jacques, Masson, Jean Yves, Pang, Yuan-Ping, Couch, Fergus J.
Publicado 2023