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Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2020 | 5 |
2021 | 1 |
2024 | 0 |
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7 results
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The influence of genetics in congenital diaphragmatic hernia.
Semin Perinatol. 2020 Feb;44(1):151169. doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1.
Semin Perinatol. 2020.
PMID: 31443905
Free PMC article.
Review.
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.
Bogenschutz EL, Fox ZD, Farrell A, Wynn J, Moore B, Yu L, Aspelund G, Marth G, Yandell M, Shen Y, Chung WK, Kardon G.
Bogenschutz EL, et al.
HGG Adv. 2020 Oct 22;1(1):100008. doi: 10.1016/j.xhgg.2020.100008. Epub 2020 Aug 25.
HGG Adv. 2020.
PMID: 33263113
Free PMC article.
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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.
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.
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Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L, Wynn J, Yu L, Hernan R, Zhou X, Duron V, Aspelund G, Farkouh-Karoleski C, Zygumunt A, Krishnan US, Nees S, Khlevner J, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, Soffer S, Schindel D, McCulley DJ, Shen Y, Chung WK.
Qiao L, et al.
Genet Med. 2020 Dec;22(12):2020-2028. doi: 10.1038/s41436-020-0908-0. Epub 2020 Jul 28.
Genet Med. 2020.
PMID: 32719394
Free PMC article.
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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen Y.
Hsieh A, et al.
Genome Med. 2020 Apr 29;12(1):42. doi: 10.1186/s13073-020-00738-1.
Genome Med. 2020.
PMID: 32349777
Free PMC article.
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Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD.
Richter F, et al.
Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29.
Nat Genet. 2020.
PMID: 32601476
Free PMC article.
Clinical Trial.
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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.
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.
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