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Page 1
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.
Qiao L, Welch CL, Hernan R, Wynn J, Krishnan US, Zalieckas JM, Buchmiller T, Khlevner J, De A, Farkouh-Karoleski C, Wagner AJ, Heydweiller A, Mueller AC, de Klein A, Warner BW, Maj C, Chung D, McCulley DJ, Schindel D, Potoka D, Fialkowski E, Schulz F, Kipfmuller F, Lim FY, Magielsen F, Mychaliska GB, Aspelund G, Reutter HM, Needelman H, Schnater JM, Fisher JC, Azarow K, Elfiky M, Nöthen MM, Danko ME, Li M, Kosiński P, Wijnen RMH, Cusick RA, Soffer SZ, Cochius-Den Otter SCM, Schaible T, Crombleholme T, Duron VP, Donahoe PK, Sun X, High FA, Bendixen C, Brosens E, Shen Y, Chung WK. Qiao L, et al. Among authors: duron vp. Am J Hum Genet. 2024 Nov 7;111(11):2362-2381. doi: 10.1016/j.ajhg.2024.08.024. Epub 2024 Sep 26. Am J Hum Genet. 2024. PMID: 39332409 Free PMC article.
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Qiao L, Xu L, Yu L, Wynn J, Hernan R, Zhou X, Farkouh-Karoleski C, Krishnan US, Khlevner J, De A, Zygmunt A, Crombleholme T, Lim FY, Needelman H, Cusick RA, Mychaliska GB, Warner BW, Wagner AJ, Danko ME, Chung D, Potoka D, Kosiński P, McCulley DJ, Elfiky M, Azarow K, Fialkowski E, Schindel D, Soffer SZ, Lyon JB, Zalieckas JM, Vardarajan BN, Aspelund G, Duron VP, High FA, Sun X, Donahoe PK, Shen Y, Chung WK. Qiao L, et al. Among authors: duron vp. Am J Hum Genet. 2021 Oct 7;108(10):1964-1980. doi: 10.1016/j.ajhg.2021.08.011. Epub 2021 Sep 20. Am J Hum Genet. 2021. PMID: 34547244 Free PMC article.
An evidence-based treatment algorithm for congenital diaphragmatic hernia.
Stewart LA, Wu YS, Channing A, Krishnan US, Leone TA, Goldshtrom N, Vargas Chaves DP, Penn A, DeFazio J, Fallon EM, Middlesworth W, Stylianos S, Duron VP. Stewart LA, et al. Among authors: duron vp. J Neonatal Perinatal Med. 2024 Nov;17(6):750-762. doi: 10.1177/19345798241308462. Epub 2024 Dec 19. J Neonatal Perinatal Med. 2024. PMID: 40016983 Review.
Being small for gestational age is not an independent risk factor for mortality in neonates with congenital diaphragmatic hernia: a multicenter study.
Zenilman A, Fan W, Hernan R, Wynn J, Abramov A, Farkouh-Karoleski C, Aspelund G, Krishnan US, Khlevner J, Azarow K, Crombleholme T, Cusick R, Chung D, Danko ME, Potoka D, Lim FY, McCulley DJ, Mychaliska GB, Schindel D, Soffer S, Wagner AJ, Warner BW, Chung WK, Duron VP. Zenilman A, et al. Among authors: duron vp. J Perinatol. 2022 Sep;42(9):1183-1188. doi: 10.1038/s41372-022-01326-4. Epub 2022 Apr 21. J Perinatol. 2022. PMID: 35449444
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