Finnell Birth Defects Laboratory


Walker DI, Perry-Walker K, Finnell RH, Pennell KD, Tran V, May RC, McElrath TF, Meador KJ, Pennell PB and Jones DP.  2019.  Metabolome-wide association study of anti-epileptic drug treatment during pregnancy. Tox. Appl. Pharmacol. 363:122-130. PMID: 30521819

Wang YM, Zheng YF, Yang SY, Yang ZM, Zhang LN, He YQ, Gong XH, Liu D, Finnell RH, Qiu ZL, Du YS and Wang HY.  2018.  MicroRNA-197 controls ADAM10 expression to mediate MeCP2’s role in the differentiation of neuronal progenitors.  Cell Death Differ. doi: 10.1038/s41418-018-0257-6. PMID: 30560934

Xie Y, Wang B, Peng R, Jing Y, Wang D, Finnell RH, Qiao B, Wang Y, Wang H and Zheng Y. 2019. Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling.  Clin.Sci. (Lond)  133(2):225-238. PMID: 30610007

Martin JB, Muccioli M, Herman K, Finnell RH and Plagman TF Jr.  2019.  Folic acid modifies the shape of epithelial cells during morphogenesis via a Folr1 and MLCK dependent mechanism.  Biology Open  8: bio041160 doi: 10.1242/bio.041160.  PMID: 30670450

Hoang TT, Lei Y, Mitchell LE, Sharma SV, Swartz MD, Waller DK, Finnell RH, Benjamin R, Browne ML, Canfield M, Lupo PJ, Shaw G, Agopian AJ, The National Birth Defects Prevention Study. Maternal lactase polymorphism (rs4988235) is associated with neural tube defects in offspring in the National Birth Defects Prevention Study. Journal of Nutrition. 2019 Feb 1;149(2):295-303. PMID: 30689919

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. 2019.  The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.  Hum. Mol. Genet. doi: 10.1093/hmg/ddz010. [Epub ahead of print] PMID: 30689861

Lei Y, Kim SE, Chen Z, Cao X, Zhu H, Yang W, Shaw GM, Zheng Y, Wang HY and Finnell RH. 2019. Variants identified in PTK7 associated with neural tube defects. Mol Genet Genomic Med. Jan28:e584. doi: 10.1002/mgg3.584. [Epub ahead of print] PMID: 30689296

Hoang TT, Lei Y, Mitchell LE, Sharma SV, Swartz MD, Waller DK, and Finnell RH, Benjamin R, Browne ML, Canfield M, Lupo PJ, Shaw G, Agopian AJ, The National Birth Defects Prevention Study. 2019.  Maternal Genetic Variants of Celiac Disease and Neural Tube Defects in Offspring. Molecular Genetics & Genomic Medicine. 2019 Jun;7(6):e688. [Epub ahead of print] PMID: 30968606

Cabrera RM, Souder JP, Steele JW, Yeo L, Tukeman G, Gorelick DA and Finnell RH. 2019.  The antagonism of folate receptor by dolutegravir: developmental toxicity reduction by supplemental folic acid. AIDS. 2019 Jun 26. doi: 10.1097/QAD.0000000000002289. [Epub ahead of print]. PMID: 31259764

Alam C,  Aufreiter S,  Georgiou CJ, Hoque Md. T, Finnell RH, O’Connor DL, Goldman ID, and Bendayan R. 2019. Upregulation of reduced folate carrier (RFC) by vitamin D enhances brain folate uptake in mice lacking folate receptor alpha (Folr1). Proc. Natl. Acad. Sci. USA.  In Press. PMID: 28885847

Steele JW, Bayliss S, Bayliss J, Lin YL, Wlodarczyk BJ, Cabrera RM, Asfaw YG, Cummings TJ, Finnell RH and George TM.  2019.  Heritable spina bifida in sheep.  A potential model for fetal repair of myelomeningocele.  J. Pediatr. Surg. pii: S0022-3468(19)30446-4. doi: 10.1016/j.jpedsurg.2019.06.019. [Epub ahead of print]  PMID: 31301886

Jenkins MM, Almli LM, Pangilinan F, Chong JX, Blue EE, Shapira SK, White J, McGoldrick D, Smith JD, Mullikin JC, Bean CJ, Nembhard WN, Lou XY, Shaw GM, Romitti PA, Keppler-Noreuil K, Yazdy MM, Kay DM, Carter TC, Olshan AF, Moore KJ, Nascone-Yoder N, Finnell RH, Lupo PJ, Feldkamp ML; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Brody LC, Reefhuis J; National Birth Defects Prevention Study.  Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.  Birth Defects Res. 2019 Jul 21. doi: 10.1002/bdr2.1554. [Epub ahead of print] PMID: 31328417



Wang YM, Zheng YF, Yang SY, Yang ZM, Zhang LN, He YQ, Gong XH, Liu D, Finnell RH, Qiu ZL, Du YS, Wang HY. 2018. MicroRNA-197 controls ADAM10 expression to mediate MeCP2's role in the differentiation of neuronal progenitors. Cell Death Differ. 2018 Dec 18. doi: 10.1038/s41418-018-0257-6. [Epub ahead of print] PMID: 30560934

Walker DI, Perry-Walker K, Finnell RH, Pennell KD, Tran V, May RC, McElrath TF, Meador KJ, Pennell PB, Jones DP. 2018. Metabolome-wide association study of anti-epileptic drug treatment during pregnancy. Toxicol Appl Pharmacol. 2019 Jan 15;363:122-130. doi: 10.1016/j.taap.2018.12.001. Epub 2018 Dec 4. PMID: 30521819

Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH. 2018. Overview on neural tube defects: From development to physical characteristics. Birth Defects Res. 2018 Nov 12. doi: 10.1002/bdr2.1380. [Epub ahead of print] Review. PMID: 30421543

Lin YL, Bialer M, Cabrera RM, Finnell RH, Wlodarczyk BJ. 2018. Teratogenicity of valproic acid and its constitutional isomer, amide derivative valnoctamide in mice. Birth Defects Res. 2018 Oct 16. doi: 10.1002/bdr2.1406. [Epub ahead of print] PMID: 30325584

Zhang J, Raghunathan R, Rippy J, Wu C, Finnell RH, Larin KV, Scarcelli G. 2018. Tissue biomechanics during cranial neural tube closure measured by Brillouin microscopy and optical coherence tomography. Birth Defects Res. 2018 Sep 21. doi: 10.1002/bdr2.1389. [Epub ahead of print] PMID: 30239173

Conde-Vancells J, Vazquez-Chantada M, McCollum CW, Bondesson M, Kalasekar SM, Wlodarczyk BJ, Gustafsson JÅ, Cabrera RM, Finnell RH. 2018. Combining mouse embryonic stem cells and zebrafish embryos to evaluate developmental toxicity of chemical exposure. Reprod Toxicol. 2018 Oct;81:220-228. doi: 10.1016/j.reprotox.2018.07.080. Epub 2018 Aug 10. PMID: 30103011

Zhou X, Xu M, Zeng W, Chen Z, Lu G, Gong Y, Finnell RH, Xiao H, Qiao B, Wang H. 2018. Combined effects of FH (E404D) and ACOX2 (R409H) cause metabolic defects in primary cardiac malignant tumor. Cell Death Discov. 2018 Jul 23;4:18. doi: 10.1038/s41420-018-0072-3. eCollection 2018. Erratum in: Cell Death Discov. 2019 Jul 10;5:116. PMID: 30062063

Wang H, Zhao S, Finnell RH, George T, Cooney AJ. 2018. Generation of integration-free induced pluripotent stem cells from a patient with spina bifida. Stem Cell Res. 2018 Aug;31:27-30. doi: 10.1016/j.scr.2018.05.007. Epub 2018 May 17. PMID: 30007220

Chen Z, Lei Y, Zheng Y, Aguiar-Pulido V, Ross ME, Peng R, Jin L, Zhang T, Finnell RH, Wang H. 2018. Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell Res. 2018 Oct;28(10):1039-1041. doi: 10.1038/s41422-018-0061-3. Epub 2018 Jul 5. Erratum in: Cell Res. 2019 Jul 25;:. PMID: 29976953

Dong Y, Wang L, Lei Y, Yang N, Cabrera RM, Finnell RH, Ren A. 2018. Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies. Birth Defects Res. 2018 Jul 17;110(12):973-981. doi: 10.1002/bdr2.1334. Epub 2018 May 6. PMID: 29732742

Gao X, Finnell RH, Wang H, Zheng Y. 2018. Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid. Birth Defects Res. 2018 Jul 17;110(12):982-993. doi: 10.1002/bdr2.1336. Epub 2018 May 6. PMID: 29732722

Kim J, Lei Y, Guo J, Kim SE, Wlodarczyk BJ, Cabrera RM, Lin YL, Nilsson TK, Zhang T, Ren A, Wang L, Yuan Z, Zheng YF, Wang HY, Finnell RH. 2018. Formate rescues neural tube defects caused by mutations in Slc25a32. Proc Natl Acad Sci U S A. 2018 May 1;115(18):4690-4695. doi: 10.1073/pnas.1800138115. Epub 2018 Apr 16. PMID: 29666258

Chen Z, Lei Y, Cao X, Zheng Y, Wang F, Bao Y, Peng R, Finnell RH, Zhang T, Wang H. 2018. Genetic analysis of Wnt/PCP genes in neural tube defects. BMC Med Genomics. 2018 Apr 4;11(1):38. doi: 10.1186/s12920-018-0355-9. PMID: 29618362

Tian T, Wang L, Shen Y, Zhang B, Finnell RH, Ren A. 2018. Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects. Epigenomics. 2018 Jul;10(7):891-901. doi: 10.2217/epi-2018-0016. Epub 2018 Mar 28. PMID: 29587534

Wang L, Xiao Y, Tian T, Jin L, Lei Y, Finnell RH, Ren A.  2018. Digenic variants of planar cell polarity genes in human neural tube defect patients. Mol Genet Metab. 2018 May;124(1):94-100. doi: 10.1016/j.ymgme.2018.03.005. Epub 2018 Mar 18. PMID: 29573971

Chen Z, Kuang L, Finnell RH, Wang H. 2018. Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort. Hum Genet. 2018 Mar;137(3):195-202. doi: 10.1007/s00439-017-1864-x. Epub 2018 Feb 8. PMID: 29423651

Niedzwiecki MM, Liu X, Zhu H, Hall MN, Slavkovich V, Ilievski V, Levy D, Siddique AB, Kibriya MG, Parvez F, Islam T, Ahmed A, Navas-Acien A, Graziano JH, Finnell RH, Ahsan H, Gamble MV. 2018. Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study. Environ Int. 2018 Apr;113:133-142. doi: 10.1016/j.envint.2018.01.015. Epub 2018 Feb 6. PMID: 29421402


Waller DK, Hashmi SS, Hoyt AT, Duong HT, Tinker SC, Gallaway MS, Olney RS, Finnell RH, Hecht JT, Canfield MA; National Birth Defects Prevention Study. 2017. Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997-2011. Birth Defects Res. 2018 Mar 1;110(4):342-351. doi: 10.1002/bdr2.1147. Epub 2017 Nov 2. PMID: 29094488

Li P, Huang L, Zheng Y, Pan X, Peng R, Jiang Y, Finnell RH, Li H, Qiao B, Wang HY. 2017. A missense mutation in TCN2 is associated with decreased risk for congenital heart defects and may increase cellular uptake of vitamin B12 via Megalin. Oncotarget. 2017 Jul 19;8(33):55216-55229. doi: 10.18632/oncotarget.19377. eCollection 2017 Aug 15. PMID: 28903415

Alam C, Hoque MT, Finnell RH, Goldman ID, Bendayan R. 2017. Regulation of Reduced Folate Carrier (RFC) by Vitamin D Receptor at the Blood-Brain Barrier. Mol Pharm. 2017 Nov 6;14(11):3848-3858. doi: 10.1021/acs.molpharmaceut.7b00572. Epub 2017 Sep 26. PMID: 28885847

Vichier-Guerre C, Parker M, Pomerantz Y, Finnell RH, Cabrera RM. 2017. Impact of selective serotonin reuptake inhibitors on neural crest stem cell formation. Toxicol Lett. 2017 Nov 5;281:20-25. doi: 10.1016/j.toxlet.2017.08.012. Epub 2017 Aug 24. PMID: 28844482

Toriyama M, Toriyama M, Wallingford JB, Finnell RH. 2017. Folate-dependent methylation of septins governs ciliogenesis during neural tube closure. FASEB J. 2017 Aug;31(8):3622-3635. doi: 10.1096/fj.201700092R. Epub 2017 Apr 21. PMID: 28432198

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. PMID: 28288114

Bibi D, Mawasi H, Nocentini A, Supuran CT, Wlodarczyk B, Finnell RH, Bialer M. 2017. Design and Comparative Evaluation of the Anticonvulsant Profile, Carbonic-Anhydrate Inhibition and Teratogenicity of Novel Carbamate Derivatives of Branched Aliphatic Carboxylic Acids with 4-Aminobenzensulfonamide. Neurochem Res. 2017 Jul;42(7):1972-1982. doi: 10.1007/s11064-017-2216-x. Epub 2017 Mar 9. PMID: 28275953

Bayer CL, Wlodarczyk BJ, Finnell RH, Emelianov SY. 2017.Ultrasound-guided spectral photoacoustic imaging of hemoglobin oxygenation during development. Biomed Opt Express. 2017 Jan 10;8(2):757-763. doi: 10.1364/BOE.8.000757. eCollection 2017 Feb 1. PMID: 28270982

Chen X, An Y, Gao Y, Guo L, Rui L, Xie H, Sun M, Lam Hung S, Sheng X, Zou J, Bao Y, Guan H, Niu B, Li Z, Finnell RH, Gusella JF, Wu BL, Zhang T. 2017. Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. Hum Mutat. 2017 Apr;38(4):378-389. doi: 10.1002/humu.23153. Epub 2017 Feb 15. PMID: 27925688

Ross ME, Mason CE, Finnell RH. 2017. Genomic approaches to the assessment of human spina bifida risk. Birth Defects Res. 2017 Jan 30;109(2):120-128. doi: 10.1002/bdra.23592. Review. PMID: 27883265

Akimova D, Wlodarczyk BJ, Lin Y, Ross ME, Finnell RH, Chen Q, Gross SS. 2017. Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects. Birth Defects Res. 2017 Jan 30;109(2):106-119. doi: 10.1002/bdra.23583. PMID: 27860192

McCollum CW, Conde-Vancells J, Hans C, Vazquez-Chantada M, Kleinstreuer N, Tal T, Knudsen T, Shah SS, Merchant FA, Finnell RH, Gustafsson JÅ, Cabrera R, Bondesson M. 2017. Identification of vascular disruptor compounds by analysis in zebrafish embryos and mouse embryonic endothelial cells. Reprod Toxicol. 2017 Jun;70:60-69. doi: 10.1016/j.reprotox.2016.11.005. Epub 2016 Nov 10. PMID: 27838387



Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A. 2016. 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. 2016. 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. 2016. 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. 2016. 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



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. 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



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



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



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



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, Chen J. 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



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  



Salbaum JM, Finnell RH, 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 GM, Lu W, Zhu H, Yang W, Briggs FB, Carmichael SL, Barcellos LF, Lammer EJ, Finnell, RH. 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