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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: de a. 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.
To further investigate the genetics of CDH, we analyzed de novo coding variants in 827 proband-parent trios and confirmed an overall significant enrichment of damaging de novo variants, especially in constrained genes. We identified LONP1 (lon peptidase 1, mitochond …
To further investigate the genetics of CDH, we analyzed de novo coding variants in 827 proband-parent trios and confirmed an overall …
Persistent pneumonia in an infant. Keeping an open mind.
De A, Stein JE, Thompson M, Perez I. De A, et al. Ann Am Thorac Soc. 2013 Oct;10(5):514-7. doi: 10.1513/AnnalsATS.201305-131CR. Ann Am Thorac Soc. 2013. PMID: 24161055 No abstract available.
Airway Inflammation and Lung Function in Sickle Cell Disease.
De A, Agrawal S, Morrone K, Zhang J, Bjorklund NL, Manwani D, Rastogi D. De A, et al. Pediatr Allergy Immunol Pulmonol. 2019 Sep 1;32(3):92-102. doi: 10.1089/ped.2019.1014. Epub 2019 Sep 17. Pediatr Allergy Immunol Pulmonol. 2019. PMID: 31559108 Free PMC article.
Asthma among hospitalized patients with COVID-19 and related outcomes.
Lovinsky-Desir S, Deshpande DR, De A, Murray L, Stingone JA, Chan A, Patel N, Rai N, DiMango E, Milner J, Kattan M. Lovinsky-Desir S, et al. Among authors: de a. J Allergy Clin Immunol. 2020 Nov;146(5):1027-1034.e4. doi: 10.1016/j.jaci.2020.07.026. Epub 2020 Aug 6. J Allergy Clin Immunol. 2020. PMID: 32771560 Free PMC article.
1,261 results