Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

著者: Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Andrew C. Edmondson, Sarah E. Noon, Matthew C. Dulik, Ramakrishnan Rajagopalan, Charles P. Venditti, Karen W. Gripp, Joy Samanich, Elaine H. Zackai, Matthew A. Deardorff, Dinah Clark, Julian L. Allen, Dale Dorsett, Ziva Misulovin, Makiko Komata, Masashige Bando, Maninder Kaur, Yuki Katou, Katsuhiko Shirahige, Ian D. Krantz - Nature Genetics 2015 被引用: 149