A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family

por Wang, Feng, Xiong, Shiyi, Wu, Lin, Chopra, Maya, Hu, Xihong, Wu, Bingbing
Publicado 2018

A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

por Chen, Guangquan, Xiong, Shiyi, Zou, Gang, Wu, Fengyu, Qu, Xiaoxing, Alawbathani, Salem, Sun, Luming
Publicado 2022

An Investigation of the Etiologies of Non-Immune Hydrops Fetalis in the Era of Next-Generation Sequence—A Single Center Experience

por Wei, Xing, Yang, Yingjun, Zhou, Jia, Zhou, Xinyao, Xiong, Shiyi, Chen, Jianping, Zhou, Fenhe, Zou, Gang, Sun, Luming
Publicado 2022

Applying and assessing the PEERS model on genetic counseling training in China: A mixed-method approach

por Dong, Dong, Xiong, Shiyi, Nichini, Elena, Chen, Xiaoqiong, Liu, Binjuan, Zhu, Liling, Yip, Faustina Fu, Sun, Luming, Zhu, Jianfeng
Publicado 2023

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

por Li, Niu, Wang, Yirou, Yang, Yu, Wang, Pengpeng, Huang, Hui, Xiong, Shiyi, Sun, Luming, Cheng, Min, Song, Cui, Cheng, Xinran, Ding, Yu, Chang, Guoying, Chen, Yao, Xu, Yufei, Yu, Tingting, Yao, Ru-en, Shen, Yiping, Wang, Xiumin, Wang, Jian
Publicado 2018

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

por Zhou, Jia, Yang, Ziying, Sun, Jun, Liu, Lipei, Zhou, Xinyao, Liu, Fengxia, Xing, Ya, Cui, Shuge, Xiong, Shiyi, Liu, Xiaoyu, Yang, Yingjun, Wei, Xiuxiu, Zou, Gang, Wang, Zhonghua, Wei, Xing, Wang, Yaoshen, Zhang, Yun, Yan, Saiying, Wu, Fengyu, Zeng, Fanwei, Wang, Jian, Duan, Tao, Peng, Zhiyu, Sun, Luming
Publicado 2021

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023