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Items: 1 to 20 of 127

1.

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, Wynn J, Loscertales M, Shan L, Bult CJ, Wilson JM, Shen Y, Chung WK, Donahoe PK.

Hum Genet. 2017 Jun;136(6):679-691. doi: 10.1007/s00439-017-1774-y. Epub 2017 Mar 16.

2.

Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.

Yu L, Sawle AD, Wynn J, Aspelund G, Stolar CJ, Arkovitz MS, Potoka D, Azarow KS, Mychaliska GB, Shen Y, Chung WK.

Hum Mol Genet. 2015 Aug 15;24(16):4764-73. doi: 10.1093/hmg/ddv196. Epub 2015 Jun 1.

3.

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.

J Med Genet. 2014 Mar;51(3):197-202. doi: 10.1136/jmedgenet-2013-101989. Epub 2014 Jan 2.

4.

Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.

Matsunami N, Shanmugam H, Baird L, Stevens J, Byrne JL, Barnhart DC, Rau C, Feldkamp ML, Yoder BA, Leppert MF, Yost HJ, Brunelli L.

Birth Defects Res. 2018 Apr 17;110(7):610-617. doi: 10.1002/bdr2.1223. Epub 2018 Mar 23.

PMID:
29570242
5.

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.

Longoni M, High FA, Russell MK, Kashani A, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult CJ, Lee C, Lage K, Pober BR, Donahoe PK.

Proc Natl Acad Sci U S A. 2014 Aug 26;111(34):12450-5. doi: 10.1073/pnas.1412509111. Epub 2014 Aug 8.

6.

Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.

Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK.

Hum Genet. 2013 Mar;132(3):285-92. doi: 10.1007/s00439-012-1249-0. Epub 2012 Nov 9.

7.

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.

J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.

8.

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

Zhu Q, High FA, Zhang C, Cerveira E, Russell MK, Longoni M, Joy MP, Ryan M, Mil-Homens A, Bellfy L, Coletti CM, Bhayani P, Hila R, Wilson JM, Donahoe PK, Lee C.

Proc Natl Acad Sci U S A. 2018 May 15;115(20):5247-5252. doi: 10.1073/pnas.1714885115. Epub 2018 Apr 30.

9.

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA.

J Med Genet. 2011 May;48(5):299-307. doi: 10.1136/jmg.2011.089680.

10.

FBN1 contributing to familial congenital diaphragmatic hernia.

Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA.

Am J Med Genet A. 2015 Apr;167A(4):831-6. doi: 10.1002/ajmg.a.36960. Epub 2015 Mar 3.

11.

De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.

High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M.

Am J Med Genet A. 2016 Sep;170(9):2457-61. doi: 10.1002/ajmg.a.37830. Epub 2016 Jul 1.

12.

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM.

Eur J Hum Genet. 2007 Sep;15(9):950-8. Epub 2007 Jun 13.

13.

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.

Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L, Bogenschutz E, Sun X, Chung WK.

Dis Model Mech. 2017 Aug 1;10(8):955-970. doi: 10.1242/dmm.028365. Review.

14.

Mesenchymal expression of the FRAS1/FREM2 gene unit is decreased in the developing fetal diaphragm of nitrofen-induced congenital diaphragmatic hernia.

Takahashi T, Friedmacher F, Zimmer J, Puri P.

Pediatr Surg Int. 2016 Feb;32(2):135-40. doi: 10.1007/s00383-015-3824-7. Epub 2015 Oct 30.

PMID:
26519041
15.

Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

Donahoe PK, Longoni M, High FA.

Am J Pathol. 2016 Oct;186(10):2532-43. doi: 10.1016/j.ajpath.2016.07.006. Epub 2016 Aug 24. Review.

16.

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.

Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B.

Hum Mol Genet. 2007 Feb 15;16(4):424-30. Epub 2007 Jan 8.

PMID:
17210672
17.

Abnormal lung development in congenital diaphragmatic hernia.

Ameis D, Khoshgoo N, Keijzer R.

Semin Pediatr Surg. 2017 Jun;26(3):123-128. doi: 10.1053/j.sempedsurg.2017.04.011. Epub 2017 Apr 25. Review.

PMID:
28641748
18.

Malformations associated with congenital diaphragmatic hernia: Impact on survival.

Bojanić K, Pritišanac E, Luetić T, Vuković J, Sprung J, Weingarten TN, Schroeder DR, Grizelj R.

J Pediatr Surg. 2015 Nov;50(11):1817-22. doi: 10.1016/j.jpedsurg.2015.07.004. Epub 2015 Jul 14.

PMID:
26259558
19.

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.

Kammoun M, Souche E, Brady P, Ding J, Cosemans N, Gratacos E, Devriendt K, Eixarch E, Deprest J, Vermeesch JR.

Prenat Diagn. 2018 Aug;38(9):654-663. doi: 10.1002/pd.5327. Epub 2018 Jul 19.

PMID:
29966037
20.

Congenital Diaphragmatic Hernia Overview.

Pober BR, Russell MK, Ackerman KG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Feb 1 [updated 2010 Mar 16].

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