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Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
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.
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG; National Birth Defects Prevention Study.
Krupp DR, et al.
Birth Defects Res A Clin Mol Teratol. 2012 Sep;94(9):683-92. doi: 10.1002/bdra.23040. Epub 2012 Jul 18.
Birth Defects Res A Clin Mol Teratol. 2012.
PMID: 22806986
Free PMC article.
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Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valves.
Shah AA, Gregory SG, Krupp D, Feng S, Dorogi A, Haynes C, Grass E, Lin SS, Hauser ER, Kraus WE, Shah SH, Hughes GC.
Shah AA, et al.
Heart Surg Forum. 2015 Aug 30;18(4):E134-9. doi: 10.1532/hsf.1247.
Heart Surg Forum. 2015.
PMID: 26334848
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Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis.
Kraus WE, Muoio DM, Stevens R, Craig D, Bain JR, Grass E, Haynes C, Kwee L, Qin X, Slentz DH, Krupp D, Muehlbauer M, Hauser ER, Gregory SG, Newgard CB, Shah SH.
Kraus WE, et al.
PLoS Genet. 2015 Nov 5;11(11):e1005553. doi: 10.1371/journal.pgen.1005553. eCollection 2015 Nov.
PLoS Genet. 2015.
PMID: 26540294
Free PMC article.
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Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir.
Gelineau-van Waes J, van Waes MA, Hallgren J, Hulen J, Bredehoeft M, Ashley-Koch AE, Krupp D, Gregory SG, Stessman HA.
Gelineau-van Waes J, et al.
Front Cell Dev Biol. 2023 Jun 12;11:1175917. doi: 10.3389/fcell.2023.1175917. eCollection 2023.
Front Cell Dev Biol. 2023.
PMID: 37377737
Free PMC article.
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Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ.
Krupp DR, et al.
Am J Hum Genet. 2017 Sep 7;101(3):369-390. doi: 10.1016/j.ajhg.2017.07.016. Epub 2017 Aug 31.
Am J Hum Genet. 2017.
PMID: 28867142
Free PMC article.
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