De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y.
Qi H, et al. Among authors: donahoe pk.
PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec.
PLoS Genet. 2018.
PMID: 30532227
Free PMC article.