Richard Finnell Lab

Finnell Lab Publications




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, Elizabeth Ross M, Finnell RH, Lei Y. 2020.  Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.  Hum Mutat. 2020 Apr;41(4):786-799 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 Junli, 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 and Xu W. 2020.  Inhibiting MARSs reduces hyperhomocysteinemia-induced neural tube and congenital heart defects.  EMBO Mol. Med. E9469. doi: 10.15252/emmm.201809469. [Epub ahead of print] 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. pii: S0300-9084(20)30033-X. doi: 10.1016/j.biochi.2020.02.005. [Epub ahead of print] Review. PMID:32061804




Lei YKim SE, Chen Z, Cao X, Zhu H, Yang W, Shaw GM, Zheng Y, Zhang T, Wang HY, Finnell RH.
Variants identified in PTK7 associated with neural tube defects. Mol Genet Genomic Med. 2019 Apr;7(4):e00584. doi: 10.1002/mgg3.584. Epub 2019 Jan 28.

Kim SE, Lei Y, Hwang SH, Wlodarczyk BJ, Mukhopadhyay S, Shaw GM, Ross ME, Finnell RH.
Dominant negative GPR161 rare variants are risk factors of human spina bifida. Hum Mol Genet. 2019 Jan 15;28(2):200-208. doi: 10.1093/hmg/ddy339.

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

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 Nov 1;33(13):1967-1976.. 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.

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

López-Escobar B, Wlodarczyk B, Caro-Vega J, Lin YFinnell RH, Ybot-González P. 2019. The interaction of maternal diabetes with mutations that affect folate metabolism and how they affect the development of the neural tube. Dev Dyn. doi: 10.1002/dvdy.92. [Epub ahead of print]




Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH. 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

Conde-Vancells J, Vazquez-Chantada M, McCollum CW, Bondesson M, Kalasekar SM, Wlodarczyk BJ, Gustafsson JÅ, Cabrera RM, Finnell RH. 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

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. 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

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. doi: 10.1002/bdr2.1389. [Epub ahead of print] PMID: 30239173

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

Lin YL, Bialer M, Cabrera RMFinnell RH and 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.

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. 5:18. doi: 10.1038/s41420-018-0072-3. eCollection 2018. PMID:30062063

Wang H, Zhao S, Finnell RH, George T, and Cooney AJ.   2018.  Generation of integration-free induced pluripotent stem cells from a patient with spina bifida.  Stem Cell Res. 31:27-30. PMID:30007220

Dong Y, Wang L, Lei Y, Yang N, Cabrera RMFinnell RH and Ren A.  2018. Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies.  Birth Defects Res. 110:973-981 PMID:29732742. PMCID: PMC6276117

Gao X, Finnell RH, Wang H and Zheng Y. 2018.  Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid.  Birth Defects Res.  110:982-993.  PMID:29732722. PMCID: PMC6320695

Chen Z, Lei Y, Zheng Y, Aguiar-Pulido V, Ross ME, Peng R, Jin L, Zhang T, Finnell RH and Wang H.  2018.  Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell Res. 2018 28(10):1039-1041. PMID:29976953.

Tian T, Wang L, Shen Y, Zhang B, Finnell RH and Ren A.  2018.   Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects.  Epigenomics 10(7):891-901.  PMID:29587534

Wang L, Xiao Y, Tian T, Jin L, Lei YFinnell RH and Ren A.  2018.  Digenic variants of planar cell polarity genes in human neural tube defect patients.  Mol. Genet. Metab.  124(1):94-100. PMID:29573971.  PMC5966321

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

McKenzie P*, Lei Y*, MombJ, ApplingD, and FinnellRH.  2018.  A Common Variant in MTHFD1L is Associated with Increased Risk for Spina Bifida.  J. Mol. Cellular Med.  In Press.

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 and Gamble MV.  2018.  Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.  Environ. Intl. 113:133-142.  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 Research Part A: Clinical and Molecular Teratology. 110(4):342-351.  PMID:29094488

Chen Z, Kuang L, Finnell RH and Wang H.  2018.  Genetic and functional analysis   of SHROOM 1-4 in a Chinese neural tube defect cohort.  Hum. Genet 137(3):195-202.  PMID: 29423651. PMC5876139.