Finnell/Cabrera Birth Defects Laboratory
2021    2020    2019     2018    2017    2016    2015    2014     2013    2012    2011    2010    2009


Cao X, Tian T, Steele JW, Cabrera RM, Aguiar-Pulido V, Wadhwa S, Bhavani N, Bi P, Gargurevich NH, Hoffman EN, Cai CQ, Marini NJ, Yang W, Shaw GM, Ross EM, Finnell RH and Lei Y. 2020. Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida. Hum Mutat. 41(4):786-799. doi: 10.1002/humu.23969. PMID: 31898828


Lei Y and Finnell RH. 2020. New myotonic dystrophy type 1 mouse model. Cell Res. 30(2):99-100. PMID: 31953529


Mei X, Qi D, Zhang T, Zhao Y, Jin L, Hou J, Wang J, Lin Y, Xue Y, Zhu P, Liu Z, Huang L, Nie J, Si W, Ma J, Ye J, Finnell RH, Saiyin H, Wang H, Zhao J, Zhao S, Xu W. 2020. Inhibiting MARSs reduces hyperhomocysteinemia-induced neural tube and congenital heart defects.  EMBO Mol. Med. E9469. doi: 10.15252/emmm.201809469. PMID: 32003121


Steele JW, Kim SE and Finnell RH. 2020.  One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects? Biochimie. 173:27-32. PMID: 32061804


Tian T, Lei Y, Chen Y, Guo Y, Jin L, Finnell RH, Wang L and Ren A.  2020.  Rare copy number variations of planar cell polarity genes are associated with human neural tube defects. Neurogenetics  21(3):217-225. PMID: 32388773


Tian T, Lei Y, Chen Y, Karki M, Jin L, Finnell RH, Wang L and Ren A.  2020. Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects. Hum.Genet. 139:1299-1314. doi: 10.1007/s00439-020-02172-0. PMID: 32356230


Taiwo TE, Cao X, Cabrera RM, Lei Y and Finnell RH.  2020.  Approaches to studying the genomic architecture of complex birth defects. Prenat Diagn. 40:1047–1055. PMID: 32468575


 Shaw GM, Yang W. and Finnell RH.  2020. Male-to-female ratio among NTDs and women’s periconceptional intake of folic acid.  Birth Defects Res. 112:1187-1193.  doi: 10.1002/bdr2.1708. PMID: 32415919


Liu L, Liu W, Shi Y, Li L, Gao Y, Lei Y, Finnell R, Zhang T, Zhang F, Jin L, Li H, Tao W and Wang H. 2020. DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway. Journal of Genetics and Genomics. 47(6):301-310.


Cao X, Wolf A, Kim SE, Cabrera RM, Wlodarczyk BJ, Zhu H, Parker M, Lin Y, Steele JW, Han X, Ramaekers VT, Steinfeld R, Finnell RH and Lei Y.  2020. CIC de novo loss of function variants contributes to cerebral folate deficiency by downregulating FOLR1expression.  J Med Genet. ;jmedgenet-2020-106987. doi: 10.1136/jmedgenet-2020-106987. Online ahead of print. PMID: 32820034


Lei Y, Ludorf KL, Yu X, Benjamin RH, Gu X, Lin Y, Finnell RH, Mitchell LE, Musfee FI, Malik S, Canfield MA, Morrison AC, Hobbs CA, Van Zutphen AR, Fisher S and Agopian AJ. 2020 National Birth Defects Prevention Study. Maternal hypertension related genotypes and congenital heart defects. Am J Hypertens. 2020 Jul 25. Online ahead of print. PMID: 32710738


Tian T, Cao X, Kim SE, Lin YL, Steele JW, Cabrera RM, Karki M, Yang W, Marini NJ, Hoffman EN, Han X, Hu C, Wang L, Wlodarczyk BJ, Shaw GM, Ren A, Finnelll RH and Lei Y.  2020. FKBP8 variants are risk factors for spina bifida.  Human Molecular Genetics. 29(18):3132–3144. PMID: 32969478


Maruvada P, Stover PJ, Mason JB, Bailey RL, Davis CD, Field MS, Finnell RH, Garza C, Green R, Gueant JL, Jacques PF, Klurfeld DM, Lamers Y, MacFarlane AJ, Miller JW, Molloy AM, O'Connor DL, Pfeiffer CM, Potischman NA, Rodricks JV, Rosenberg IH, Ross SA, Shane B, Selhub J, Stabler SP, Trasler J, Yamini S and Zappalà G. 2020.  Knowledge gaps in understanding the metabolic and clinical effects of excess folates/folic acid: a summary, and perspectives, from an NIH workshop.  Am J Clin Nutr. 112(5):1390-1403. PMID: 33022704


Keuls RA, Kojima K, Lozzi B, Steele JW, Chen Q, Gross SS, Finnell RH and Parchem RJ. 2020.  MiR-302 Regulates Glycolysis to Control Cell-Cycle during Neural Tube Closure. Int. J. Mol. Sci.  21, 7534. PMID: 33066028



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