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Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Brosens E, Peters NCJ, van Weelden KS, Bendixen C, Brouwer RWW, Sleutels F, Bruggenwirth HT, van Ijcken WFJ, Veenma DCM, Otter SCMC, Wijnen RMH, Eggink AJ, van Dooren MF, Reutter HM, Rottier RJ, Schnater JM, Tibboel D, de Klein A. Brosens E, et al. Front Pediatr. 2022 Feb 3;9:800915. doi: 10.3389/fped.2021.800915. eCollection 2021. Front Pediatr. 2022. PMID: 35186825 Free PMC article. Review.
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: brosens e. 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
Selection of potential targets for stratifying congenital pulmonary airway malformation patients with molecular imaging: is MUC1 the one?
van Horik C, Zuidweg MJP, Boerema-de Munck A, Buscop-van Kempen M, Brosens E, Vahrmeijer AL, von der Thüsen JH, Wijnen RMH, Rottier RJ, Tummers WSFJ, Schnater JM. van Horik C, et al. Among authors: brosens e. Eur Respir Rev. 2023 Dec 20;32(170):230217. doi: 10.1183/16000617.0217-2023. Print 2023 Dec 31. Eur Respir Rev. 2023. PMID: 38123235 Free PMC article. Review.
Structural and numerical changes of chromosome X in patients with esophageal atresia.
Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Brosens E, et al. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398799 Free PMC article.
86 results