Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome
22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型，共纳入3016例患者。
期刊:
影响因子:
doi:10.64898/2026.02.23.26346918
Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E
