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    2016

  • Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A.
    Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population.
    Birth Defects Res A Clin Mol Teratol. 2016 May 11. doi: 10.1002/bdra.23517. [Epub ahead of print].
    PMID: 27166990    
  • Fonteles CSR, Finnell RH, George TM, Harshbarger RJ.
    Craniosynostosis: Current conceptions and misconceptions.
    AIMS Genetics. 2016 Apr 3(1):99-129. doi: 10.3934/genet.2016.1.99.
    AIMS Genetics Review    
  • Denny KJ, Kelly CF, Kumar V, Witham KL, Cabrera RM, Finnell RH, Taylor SM, Jeannes A, Woodruff TM.
    Autoantibodies against homocysteinylated protein in a mouse model of folate deficiency-induced neural tube defects.
    Birth Defects Res A Clin Mol Teratol. 2016 Mar;106(3):201-207. doi: 10.1002/bdra.23483. Epub 2016 Feb 22.
    PMID: 26900104    
  •  Lei Y, Finnell RH.
    New Techniques for the Study of Neural Tube Defects.
    Adv Tech Biol Med. 2016 Feb;4(1). pii: 157. E pub 2015 Dec 26.
    PMID: 27066597   
  • 2015

  • Hill DS, Cabrera R, Wallis Schultz D, Zhu H, Lu W, Finnell RH, Wlodarczyk BJ.
    Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model.
    Behav Neurol. 2015;2015:426263. doi: 10.1155/2015/426263. Epub 2015 Oct 26.
    PMID: 26586927    
  • Wlodarczyk BJ, Ogle K, Lin LY, Bialer M, Finnell RH.
    Comparative teratogenicity analysis of valnoctamide, risperidone, and olanzapine in mice.
    Bipolar Disord. 2015 Aug 20. doi: 10.1111/bdi.12325. [Epub ahead of print]
    PMID: 26292082    
  • Wang B, Jin L, Ren A, Yuan Y, Liu J, Li Z, Zhang L, Yi D, Wang LL, Zhang Y, Wang X, Tao S, Finnell RH.
    Correction to Levels of Polycyclic Aromatic Hydrocarbons in Maternal Serum and Risk of Neural Tube Defects in Offspring.
    Environ Sci Technol. 2015 Sep 1;49(17):10754-5. doi: 10.1021/acs.est.5b03471. Epub 2015 Aug 14. No abstract available.
    PMID: 26274604    
  • Cantarel BL, Lei Y, Weaver D, Zhu H, Farrell A, Benstead-Hume G, Reese J, Finnell RH.
    Analysis of archived residual newborn screening blood spots after whole genome amplification.
    BMC Genomics. 2015 Aug 13;16(1):602. doi: 10.1186/s12864-015-1747-2.
    PMID: 26268606    
  • Shawlot W, Vazquez-Chantada M, Wallingford JB, Finnell RH.
    Rfx2 is required for spermatogenesis in the mouse.
    Genesis. 2015 Aug 6. doi: 10.1002/dvg.22880. [Epub ahead of print]
    PMID: 26248850    
  • Webber DM, MacLeod SL, Bamshad MJ, Shaw GM, Finnell RH, Shete SS, Witte JS, Erickson SW, Murphy LD, Hobbs C.
    Developments in our understanding of the genetic basis of birth defects.
    Birth Defects Res A Clin Mol Teratol. 2015 Aug;103(8):680-91. doi: 10.1002/bdra.23385. Epub 2015 May 28.
    PMID: 26033863    
  • Mawasi H, Shekh-Ahmad T, Finnell RH, Wlodarczyk BJ, Bialer M.
    Pharmacodynamic and pharmacokinetic analysis of CNS-active constitutional isomers of valnoctamide and sec-butylpropylacetamide--Amide derivatives of valproic acid.
    Epilepsy Behav. 2015 May;46:72-8. doi: 10.1016/j.yebeh.2015.02.040. Epub 2015 Apr 8.
    PMID: 25863940    
  • Fathe K, Person MD, Finnell RH.
    The application of a chemical determination of N-homocysteinylation levels in developing mouse embryos: implication for folate responsive birth defects.
    J Nutr Biochem. 2015 Apr;26(4):312-8. doi: 10.1016/j.jnutbio.2014.10.004. Epub 2014 Nov 12.
    PMID: 25620692    
  • 2014

  • Lei Y, Fathe K, McCartney D, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH.
    Rare LRP6 Variants Identified in Spina Bifida Patients.
    Hum Mutat. 2014 Dec 25. doi: 10.1002/humu.22750. [Epub ahead of print]
    PMID: 25546815    
  • Yi D, Yuan Y, Jin L, Zhou G, Zhu H, Finnell RH, Ren A.
    Levels of PAH-DNA adducts in cord blood and cord tissue and the risk of fetal neural tube defects in a Chinese population.
    Neurotoxicology. 2014 Dec 15;46C:73-78. doi: 10.1016/j.neuro.2014.12.003. [Epub ahead of print]
    PMID: 25522656    
  • Wang B, Jin L, Ren A, Yuan Y, Liu J, Li Z, Zhang L, Yi D, Wang L, Zhang Y, Wang X, Tao S, Finnell RH.
    Levels of Polycyclic Aromatic Hydrocarbons in Maternal Serum and Risk of Neural Tube Defects in Offspring.
    Environ Sci Technol. 2014 Dec 23. [Epub ahead of print]
    PMID: 25488567    
  • Martínez-Uña M, Varela-Rey M, Mestre D, Fernández-Ares L, Fresnedo O, Fernandez-Ramos D, Juan VG, Martin-Guerrero I, García-Orad A, Luka Z, Wagner C, Lu SC, García-Monzón C, Finnell RH, Aurrekoetxea I, Buqué X, Martínez-Chantar ML, Mato JM, Aspichueta P.
    S-Adenosylmethionine increases circulating very-low density lipoprotein clearance in non-alcoholic fatty liver disease.
    J Hepatol. 2014 Oct 18. pii: S0168-8278(14)00780-6. doi: 10.1016/j.jhep.2014.10.019. [Epub ahead of print]
    PMID: 25457203    
  • Shekh-Ahmad T, Mawasi H, McDonough JH, Finnell RH, Wlodarczyk BJ, Yavin E, Bialer M.
    Enantioselective pharmacodynamic and pharmacokinetic analysis of two chiral CNS-active carbamate derivatives of valproic acid.
    Epilepsia. 2014 Nov 29. doi: 10.1111/epi.12857. [Epub ahead of print]
    PMID: 25442425    
  • Mitchell LE, Finnell RH.
    Papers from the Eighth International Neural Tube Defects Conference.
    Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):561-2. doi: 10.1002/bdra.23289. No abstract available.
    PMID: 25155952    
  • Hansler A, Chen Q, Gray JD, Ross ME, Finnell RH, Gross SS.
    Untargeted metabolite profiling of murine embryos to reveal metabolic perturbations associated with neural tube closure defects.
    Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):623-32. doi: 10.1002/bdra.23272. Epub 2014 Aug 13.
    PMID: 25115437    
  • Fathe K, Palacios A, Finnell RH.
    Brief report novel mechanism for valproate-induced teratogenicity.
    Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):592-7. doi: 10.1002/bdra.23277. Epub 2014 Jul 26.
    PMID: 25066307    
  • Tsurubuchi T, Allender EV, Siddiqui MR, Shim KW, Ichi S, Boshnjaku V, Mania-Farnell B, Xi G, Finnell RH, McLone DG, Tomita T, Mayanil CS.
    A critical role of noggin in developing folate-nonresponsive NTD in Fkbp8 -/- embryos.
    Childs Nerv Syst. 2014 Aug;30(8):1343-53. doi: 10.1007/s00381-014-2428-1. Epub 2014 May 10.
    PMID: 24817375    
  • Lei Y, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH.
    Identification of novel CELSR1 mutations in spina bifida.
    PLoS One. 2014 Mar 14;9(3):e92207. doi: 10.1371/journal.pone.0092207. eCollection 2014.
    PMID: 24632739    
  • Wlodarczyk BJ, Zhu H, Finnell RH.
    Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity.
    Toxicol Appl Pharmacol. 2014 Feb 15;275(1):22-7. doi: 10.1016/j.taap.2013.12.014. Epub 2013 Dec 30.
    PMID: 24384392    
  • Lupo PJ, Mitchell LE, Canfield MA, Shaw GM, Olshan AF, Finnell RH, Zhu H; National Birth Defects Prevention Study.
    Maternal-fetal metabolic gene-gene interactions and risk of neural tube defects.
    Mol Genet Metab. 2014 Jan;111(1):46-51. doi: 10.1016/j.ymgme.2013.11.004. Epub 2013 Nov 18
    PMID: 24332798    
  • Shekh-Ahmad T, Hen N, Yagen B, McDonough JH, Finnell RH, Wlodarczyk BJ, Bialer M.
    Stereoselective anticonvulsant and pharmacokinetic analysis of valnoctamide, a CNS-active derivative of valproic acid with low teratogenic potential.
    Epilepsia. 2014 Feb;55(2):353-61. doi: 10.1111/epi.12480. Epub 2013 Dec 6.
    PMID: 24313671    
  • 2013

  • Denny KJ, Jeanes A, Fathe K, Finnell RH, Taylor SM, Woodruff TM.
    Neural tube defects, folate, and immune modulation.
    Birth Defects Res A Clin Mol Teratol. 2013 Sept;97(9):602-9. doi: 10.1002/bdra.23177. Review.
    PMID: 24078477    
  • Lei Y, Zhu H, Duhon C, Yang W, Ross ME, Shaw GM, Finnell RH.
    Mutations in planar cell polarity gene SCRIB are associated with spina bifida.
    PLoS One. 2013 Jul 26;8(7):e69262. doi: 10.1371/journal.pone.0069262. Print 2013.
    PMID: 23922697    
  • Agopian AJ, Bhalla AD, Boerwinkle E, Finnell RH, Grove ML, Hixson JE, Shimmin LC, Sewda A, Stuart C, Zhong Y, Zhu H, Mitchell LE.
    Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.
    Birth Defects Res A Clin Mol Teratol. 2013 Sep;97(9):597-601. doi: 10.1002/bdra.23163. Epub 2013 Aug 2.
    PMID: 23913553    
  • Hen N, Shekh-Ahmad T, Yagen B, McDonough JH, Finnell RH, Wlodarczyk B, Bialer M.
    Stereoselective Pharmacodynamic and Pharmacokinetic Analysis of sec-Butyl-propylacetamide (SPD), a New CNS-Active Derivative of Valproic Acid with Unique Activity against Status Epilepticus.
    J Med Chem. Aug 22;56(16):6467-77. doi: 10.1021/jm4007565. Epub 2013 Aug 7.
    PMID: 23879329    
  • Tabler JM, Barrell WB, Szabo-Rogers HL, Healy C, Yeung Y, Perdiguero EG, Schulz C, Yannakoudakis BZ, Mesbahi A, Wlodarczyk B, Geissmann F, Finnell RH, Wallingford JB, Liu KJ.
    Fuz Mutant Mice Reveal Shared Mechanisms between Ciliopathies and FGF-Related Syndromes.
    Dev Cell. 2013 Jun 24;25(6):623-35. doi: 10.1016/j.devcel.2013.05.021.
    PMID: 23806618    
  • Martínez-Uña M, Varela-Rey M, Cano A, Fernández-Ares L, Beraza N, Aurrekoetxea I, Martínez-Arranz I, García-Rodríguez JL, Buqué X, Mestre D, Luka Z, Wagner C, Alonso C, Finnell RH, Lu SC, Martínez-Chantar ML, Aspichueta P, Mato JM.
    Excess S-adenosylmethionine reroutes phosphatidylethanolamine towards phosphatidylcholine and triglyceride synthesis.
    Hepatology. 2013 Mar 16. doi: 10.1002/hep.26399.
    PMID: 23505042    
  • Wallingford JB, Niswander LA, Shaw GM, Finnell RH.
    The continuing challenge of understanding, preventing, and treating neural tube defects.
    Science. 2013 Mar 1;339(6123):1222002. doi: 10.1126/science.1222002. Review.
    PMID: 23449594    
  • Lai SC, Nakayama Y, Sequeira JM, Wlodarczyk BJ, Cabrera RM, Finnell RH, Bottiglieri T, Quadros EV.
    The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system.
    FASEB J. 2013 Jun;27(6):2468-75. doi: 10.1096/fj.12-219055. Epub 2013 Feb 21.
    PMID: 23430977    
  • Denny KJ, Coulthard LG, Jeanes A, Lisgo S, Simmons DG, Callaway LK, Wlodarczyk B, Finnell RH, Woodruff TM, Taylor SM.
    C5a receptor signaling prevents folate deficiency-induced neural tube defects in mice.
    J Immunol. 2013 Apr 1;190(7):3493-9. doi: 10.4049/jimmunol.1203072. Epub 2013 Feb 18.
    PMID: 23420882    
  • Farkas SA, Böttiger AK, Isaksson HS, Finnell RH, Ren A, Nilsson TK.
    Epigenetic alterations in folate transport genes in placental tissue from fetuses with neural tube defects and in leukocytes from subjects with hyperhomocysteinemia.
    Epigenetics. 2013 Mar;8(3):303-16. doi: 10.4161/epi.23988. Epub 2013 Feb 15.
    PMID: 23417011    
  • Yuan Y, Jin L, Wang L, Li Z, Zhang L, Zhu H, Finnell RH, Zhou G, Ren A.
    Levels of PAH-DNA adducts in placental tissue and the risk of fetal neural tube defects in a Chinese population.
    Reprod Toxicol. 2013 Jun;37:70-5. doi: 10.1016/j.reprotox.2013.01.008. Epub 2013 Feb 15.
    PMID: 23416326    
  • Denny KJ, Coulthard LG, Finnell RH, Callaway LK, Taylor SM, Woodruff TM.
    Elevated complement factor C5a in maternal and umbilical cord plasma in preeclampsia.
    J Reprod Immunol. 2013 Apr;97(2):211-6. doi:10.1016/j.jri.2012.11.006. Epub 2013 Feb 14.
    PMID: 23415845    
  • Wang X, Cabrera RM, Li Y, Miller DS, Finnell RH.
    Functional regulation of P-glycoprotein at the blood-brain barrier in proton-coupled folate transporter (PCFT) mutant mice.
    FASEB J. 2013 Mar;27(3):1167-75. doi: 10.1096/fj.12-218495. Epub 2012 Dec 4.
    PMID: 23212123    
  • 2012

  • Lupo PJ, Chapa C, Nousome D, Duhon C, Canfield MA, Shaw GM, Finnell RH, Zhu H.
    A GCH1 haplotype and risk of neural tube defects in the National Birth Defects Prevention Study.
    Mol Genet Metab. 2012 Nov;107(3):592-595. doi: 10.1016/j.ymgme.2012.09.020. Epub 2012 Sep 25.
    PMID: 23059057    
  • Cabrera RM, Finnell RH, Zhu H, Shaw GM, Wlodarczyk BJ.
    Transcriptional analyses of two mouse models of spina bifida.
    Birth Defects Res A Clin Mol Teratol. 2012 Oct;94(10):782-9. doi: 10.1002/bdra.23081. Epub 2012 Sep 28.
    PMID: 23024056    
  • Bradley A, Anastassiadis K, Ayadi A, Battey JF, Bell C, Birling MC, Bottomley J, Brown SD, Bürger A, Bult CJ, Bushell W, Collins FS, Desaintes C, Doe B, Economides A, Eppig JT, Finnell RH et al.
    The mammalian gene function resource: the international knockout mouse consortium.
    Mamm Genome. 2012 Oct;23(9-10):580-6. doi: 10.1007/s00335-012-9422-2. Epub 2012 Sep 12.
    PMID: 22968824    
  • Etheredge AJ, Finnell RH, Carmichael SL, Lammer EJ, Zhu H, Mitchell LE, Shaw GM.
    Maternal and infant gene-folate interactions and the risk of neural tube defects.
    Am J Med Genet A. 2012 Oct;158A(10):2439-46. doi: 10.1002/ajmg.a.35552. Epub 2012 Aug 17.
    PMID: 22903727    
  • Zhu H, Yang W, Shaw N, Perloff S, Carmichael SL, Finnell RH, Shaw GM, Lammer EJ.
    Thymidylate synthase polymorphisms and risk of conotruncal heart defects.
    Am J Med Genet A. 2012 Sep;158A(9):2194-203. doi: 10.1002/ajmg.a.35310. Epub 2012 Aug 7.
    PMID: 22887475    
  • Wlodarczyk BJ, Palacios AM, George TM, Finnell RH.
    Antiepileptic drugs and pregnancy outcomes.
    Am J Med Genet A. 2012 Jun 18. doi: 10.1002/ajmg.a.35438.
    PMID: 22711424    
  • Wallis D, Hill DS, Mendez IA, Abbott LC, Finnell RH, Wellman PJ, Setlow B.
    Initial characterization of mice null for Lphn3, a gene implicated in ADHD and addiction.
    Brain Res. 2012 Jun 29;1463:85-92. Epub 2012 May 7.
    PMID: 22575564    
  • Zhu H, Yang W, Lu W, Etheredge AJ, Lammer EJ, Finnell RH, Carmichael SL, Shaw GM.
    Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.
    Am J Med Genet A. 2012 May;158A(5):1124-34. doi: 10.1002/ajmg.a.35313. Epub 2012 Apr 11.
    PMID:22495907    
  • Paschaki M, Lin SC, Wong RL, Finnell RH, Dollé P, Niederreither K.
    Retinoic acid-dependent signaling pathways and lineage events in the developing mouse spinal cord.
    PLoS One. 2012;7(3):e32447. Epub 2012 Mar 2.
    PMID: 22396766    
  • Lupo PJ, Langlois PH, Reefhuis J, Lawson CC, Symanski E, Desrosiers TA, Khodr ZG, Agopian AJ, Waters MA, Duwe KN, Finnell RH, Mitchell LE, Moore CA, Romitti PA, Shaw GM
    Maternal Occupational Exposure to Polycyclic Aromatic Hydrocarbons: Effects on Gastroschisis among Offspring in the National Birth Defects Prevention Study.
    Environ Health Perspect. 2012 Jun;120(6):910-5. Epub 2012 Feb 13.
    PMID: 22330681    
  • Psychoyos D, Vinod KY, Cao J, Xie S, Hyson RL, Wlodarczyk B, He W, Cooper TB, Hungund BL, Finnell RH.
    Cannabinoid receptor 1 signaling in embryo neurodevelopment.
    Birth Defects Res B Dev Reprod Toxicol. 2012 Apr;95(2):137-50. doi: 10.1002/bdrb.20348. Epub 2012 Feb 6.
    PMID: 22311661    
  • 2011

  • Pessah N, Yagen B, Hen N, Shimshoni JA, Wlodarczyk B, Finnell RH, Bialer M.
    Design and pharmacological activity of glycinamide and N-methoxy amide derivatives of analogs and constitutional isomers of valproic acid.
    Epilepsy Behav. 2011 Nov;22(3):461-8. doi: 10.1016/j.yebeh.2011.08.026. Epub 2011 Sep 29.
    PMID: 21959082    
  • Ren A, Qiu X, Jin L, Ma J, Li Z, Zhang L, Zhu H, Finnell RH, Zhu T.
    Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects.
    Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12770-5. doi: 10.1073/pnas.1105209108. Epub 2011 Jul 18.
    PMID: 21768370    
  • Wlodarczyk BJ, Palacios AM, Chapa CJ, Zhu H, George TM, Finnell RH.
    Genetic basis of susceptibility to teratogen induced birth defects.
    Am J Med Genet C Semin Med Genet. 2011 Aug 15;157C(3):215-26. doi: 10.1002/ajmg.c.30314. Epub 2011 Jul 15.
    PMID: 21766441    
  • Boyles AL, Ballard JL, Gorman EB, McConnaughey DR, Cabrera RM, Wilcox AJ, Lie RT, Finnell RH.
    Association between inhibited binding of folic acid to folate receptor alpha in maternal serum and folate-related birth defects in Norway.
    Hum Reprod. 2011 Aug;26(8):2232-8. doi: 10.1093/humrep/der144. Epub 2011 May 15.
    PMID: 21576080    
  • Wang J, Chen L, Wen S, Zhu H, Yu W, Moskowitz IP, Shaw GM, Finnell RH, Schwartz RJ.
    Defective sumoylation pathway directs congenital heart disease.
    Birth Defects Res A Clin Mol Teratol. 2011 Jun;91(6):468-76. doi: 10.1002/bdra.20816. Epub 2011 May 11.
    PMID: 21563299    
  • Salojin KV, Cabrera RM, Sun W, Chang WC, Lin C, Duncan L, Platt KA, Read R, Vogel P, Liu Q, Finnell RH, Oravecz T.
    A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency.
    Blood. 2011 May 5;117(18):4895-904. doi: 10.1182/blood-2010-04-279653. Epub 2011 Feb 23.
    PMID: 21346251    
  • Blanton SH, Henry RR, Yuan Q, Mulliken JB, Stal S, Finnell RH, Hecht JT.
    Folate pathway and nonsyndromic cleft lip and palate.
    Birth Defects Res A Clin Mol Teratol. 2011 Jan;91(1):50-60. doi: 10.1002/bdra.20740. Epub 2010 Dec 1.
    PMID: 21254359    
  • Dai D, Zhu H, Wlodarczyk B, Zhang L, Li L, Li A, Finnell RH, Roop DR and J Chen.
    Fuz controls the morphogenesis and differentiation of hair follicles through the formation of primary cilia.
    J. Invest. Derm. 2011 Feb;131(2):302-10. doi: 10.1038/jid.2010.306. Epub 2010 Oct 21.
    PMID: 20962855    
  • 2010

  • Finnell RH, Blom HJ,Shaw GM
    Does global hypomethylation contribute to susceptibility to neural tube defects?
    Am J Clin Nutr. 2010 May;91(5):1153-1154. doi: 10.3945/ajcn.2010.29534. Epub 2010 Apr 7.
    PMID:20375188    
  • Iskandar BJ, Rizk E, Meier B, Hariharan N, Bottiglieri T, Finnell RH, Jarrard DF, Banerjee RV, Skene JHP, Nelson A. et al.
    Folate regulation of axonal regeneration in the rodent central nervous system through DNA methylation.
    J Clin Invest. 2010 May;120(5):1603-1616. doi: 10.1172/JCI40000. Epub 2010 Apr 26.
    PMID:20424322    
  • Obican SG, Finnell RH, Mills JL, Shaw GM, Scialli AR.
    Folic acid in early pregnancy: a public health success story.
    FASEB J. 2010 Nov;24(11):4167-4174. doi: 10.1096/fj.10-165084. Epub 2010 July 14.
    PMID: 20631328    
  • 2009

  • Salbaum, J. M., Finnell, R. H. and Kappen, C.
    Regulation of folate receptor 1 gene expression in the visceral endoderm.
    Birth Defects Res A Clin Mol Teratol. 2009 Apr;85(4):303-313. doi: 10.1002/bdra.20537.
    PMID:19180647  
  • Shaw, G.M., Lu, W., Zhu, H., Yang, W., Briggs, F.B., Carmichael, S.L., Barcellos, L.F., Lammer, E.J., and Finnell, R.H.
    118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
    BMC Med Genet. 2009 Jun 3;10:49. doi: 10.1186/1471-2350-10-49.
    PMID:19493349