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Page 1
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: yu l. 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.
De novo copy number variants are associated with congenital diaphragmatic hernia.
Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK. Yu L, et al. J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135. J Med Genet. 2012. PMID: 23054247 Free PMC article.
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS; University of Washington Center for Mendelian Genomics; Mefford H, Chung WK. Yu L, et al. J Med Genet. 2014 Mar;51(3):197-202. doi: 10.1136/jmedgenet-2013-101989. Epub 2014 Jan 2. J Med Genet. 2014. PMID: 24385578 Free PMC article.
Genetic causes of congenital diaphragmatic hernia.
Wynn J, Yu L, Chung WK. Wynn J, et al. Among authors: yu l. Semin Fetal Neonatal Med. 2014 Dec;19(6):324-30. doi: 10.1016/j.siny.2014.09.003. Epub 2014 Oct 28. Semin Fetal Neonatal Med. 2014. PMID: 25447988 Free PMC article. Review.
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. Among authors: yu l. 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.
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. Among authors: yu l. 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.
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D. Warburton D, et al. Among authors: yu l, yu cy. Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25. Hum Genet. 2014. PMID: 23979609 Free PMC article.
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Kruszka P, et al. Among authors: yu l. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592524
The Allostery and Modification of hGHRH Molecules and Specific Dimer Produced Significant Fertility Effect by Proliferating and Activating in-situ Ovarian Mesenchymal Stem Cells.
Zhang XD, Luo Q, Du Y, Yang L, Yu LC, Feng L, Rao D, Tang JX, Tan HM, Guo XY, Tang SS, Liu T, Yue F, Huang HX. Zhang XD, et al. Among authors: yu lc. Eur J Pharm Sci. 2024 Apr 19:106768. doi: 10.1016/j.ejps.2024.106768. Online ahead of print. Eur J Pharm Sci. 2024. PMID: 38643940
Immunophenotypic clustering in paediatric acute myeloid leukaemia.
Liu H, Wu K, Hu W, Chen X, Tang Y, Ma Y, Chen C, Xie Y, Yu L, Huang J, Shen S, Wang X. Liu H, et al. Among authors: yu l. Br J Haematol. 2024 Apr 19. doi: 10.1111/bjh.19471. Online ahead of print. Br J Haematol. 2024. PMID: 38639201
Targeted remodeling of the human gut microbiome using Juemingzi (Senna seed extracts).
Narrowe AB, Lemons JMS, Mahalak KK, Firrman J, den Abbeele PV, Baudot A, Deyaert S, Li Y, Yu LL, Liu L. Narrowe AB, et al. Among authors: yu ll. Front Cell Infect Microbiol. 2024 Apr 4;14:1296619. doi: 10.3389/fcimb.2024.1296619. eCollection 2024. Front Cell Infect Microbiol. 2024. PMID: 38638830 Free PMC article.
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