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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.
Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.
Russell MK, Longoni M, Wells J, Maalouf FI, Tracy AA, Loscertales M, Ackerman KG, Pober BR, Lage K, Bult CJ, Donahoe PK. Russell MK, et al. Among authors: donahoe pk. Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2978-83. doi: 10.1073/pnas.1121621109. Epub 2012 Feb 6. Proc Natl Acad Sci U S A. 2012. PMID: 22315423 Free PMC article.
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR. Longoni M, et al. Among authors: donahoe pk. Am J Med Genet A. 2012 Dec;158A(12):3148-58. doi: 10.1002/ajmg.a.35665. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165946 Free PMC article.
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
Longoni M, Russell MK, High FA, Darvishi K, Maalouf FI, Kashani A, Tracy AA, Coletti CM, Loscertales M, Lage K, Ackerman KG, Woods SA, Ward-Melver C, Andrews D, Lee C, Pober BR, Donahoe PK. Longoni M, et al. Among authors: donahoe pk. Clin Genet. 2015 Apr;87(4):362-7. doi: 10.1111/cge.12395. Epub 2014 Apr 26. Clin Genet. 2015. PMID: 24702427 Free PMC article.
341 results