Ashley-Koch AE - Search Results

1

Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: ashley koch ae. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583

2

Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Au KS, Ashley-Koch A, Northrup H. Au KS, et al. Dev Disabil Res Rev. 2010;16(1):6-15. doi: 10.1002/ddrr.93. Dev Disabil Res Rev. 2010. PMID: 20419766 Free PMC article. Review.

3

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. Kousa YA, et al. Hum Mol Genet. 2019 May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010. Hum Mol Genet. 2019. PMID: 30689861 Free PMC article.

4

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

Hillman P, Baker C, Hebert L, Brown M, Hixson J, Ashley-Koch A, Morrison AC, Northrup H, Au KS. Hillman P, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1495. doi: 10.1002/mgg3.1495. Epub 2020 Sep 22. Mol Genet Genomic Med. 2020. PMID: 32960507 Free PMC article.

5

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

Hebert L, Hillman P, Baker C, Brown M, Ashley-Koch A, Hixson JE, Morrison AC, Northrup H, Au KS. Hebert L, et al. PLoS One. 2020 Sep 24;15(9):e0239083. doi: 10.1371/journal.pone.0239083. eCollection 2020. PLoS One. 2020. PMID: 32970752 Free PMC article.

6

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Au KS, Hebert L, Hillman P, Baker C, Brown MR, Kim DK, Soldano K, Garrett M, Ashley-Koch A, Lee S, Gleeson J, Hixson JE, Morrison AC, Northrup H. Au KS, et al. Sci Rep. 2021 Feb 11;11(1):3639. doi: 10.1038/s41598-021-83058-7. Sci Rep. 2021. PMID: 33574475 Free PMC article.

7

Refinement of 2q and 7p loci in a large multiplex NTD family.

Stamm DS, Siegel DG, Mehltretter L, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC; NTD Collaborative Group. Stamm DS, et al. Birth Defects Res A Clin Mol Teratol. 2008 Jun;82(6):441-52. doi: 10.1002/bdra.20462. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18452155

8

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC; NTD Collaborative Group. Deak KL, et al. Birth Defects Res A Clin Mol Teratol. 2008 Oct;82(10):662-9. doi: 10.1002/bdra.20511. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18937341 Free PMC article.

9

Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.

Soldano KL, Garrett ME, Cope HL, Rusnak JM, Ellis NJ, Dunlap KL, Speer MC, Gregory SG, Ashley-Koch AE. Soldano KL, et al. Birth Defects Res B Dev Reprod Toxicol. 2013 Oct;98(5):365-73. doi: 10.1002/bdrb.21079. Epub 2013 Dec 9. Birth Defects Res B Dev Reprod Toxicol. 2013. PMID: 24323870 Free PMC article.

10

Missing genetic risk in neural tube defects: can exome sequencing yield an insight?

Krupp DR, Soldano KL, Garrett ME, Cope H, Ashley-Koch AE, Gregory SG. Krupp DR, et al. Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):642-6. doi: 10.1002/bdra.23276. Epub 2014 Jul 21. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25044326 Free PMC article.

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