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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: zygmunt 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.
Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study.
Wynn J, Aspelund G, Zygmunt A, Stolar CJ, Mychaliska G, Butcher J, Lim FY, Gratton T, Potoka D, Brennan K, Azarow K, Jackson B, Needelman H, Crombleholme T, Zhang Y, Duong J, Arkovitz MS, Chung WK, Farkouh C. Wynn J, et al. Among authors: zygmunt a. J Pediatr Surg. 2013 Oct;48(10):1995-2004. doi: 10.1016/j.jpedsurg.2013.02.041. J Pediatr Surg. 2013. PMID: 24094947 Free PMC article. Clinical Trial.
Two-Year-Old Cognitive Outcomes in Children of Pregnant Women With Epilepsy in the Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs Study.
Meador KJ, Cohen MJ, Loring DW, May RC, Brown C, Robalino CP, Matthews AG, Kalayjian LA, Gerard EE, Gedzelman ER, Penovich PE, Cavitt J, Hwang S, Sam M, Pack AM, French J, Tsai JJ, Pennell PB; Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs Investigator Group. Meador KJ, et al. JAMA Neurol. 2021 Aug 1;78(8):927-936. doi: 10.1001/jamaneurol.2021.1583. JAMA Neurol. 2021. PMID: 34096986 Free PMC article.
Fetal loss and malformations in the MONEAD study of pregnant women with epilepsy.
Meador KJ, Pennell PB, May RC, Van Marter L, McElrath TF, Brown C, Gerard E, Kalayjian L, Gedzelman E, Penovich P, Cavitt J, French J, Hwang S, Pack AM, Sam M, Birnbaum AK, Finnell R; MONEAD Investigator Group. Meador KJ, et al. Neurology. 2020 Apr 7;94(14):e1502-e1511. doi: 10.1212/WNL.0000000000008687. Epub 2019 Dec 5. Neurology. 2020. PMID: 31806691 Free PMC article.
Changes in Seizure Frequency and Antiepileptic Therapy during Pregnancy.
Pennell PB, French JA, May RC, Gerard E, Kalayjian L, Penovich P, Gedzelman E, Cavitt J, Hwang S, Pack AM, Sam M, Miller JW, Wilson SH, Brown C, Birnbaum AK, Meador KJ; MONEAD Study Group. Pennell PB, et al. N Engl J Med. 2020 Dec 24;383(26):2547-2556. doi: 10.1056/NEJMoa2008663. N Engl J Med. 2020. PMID: 33369356 Free PMC article.
142 results