Latest Publications:
Sluzala ZB, Furth KE. Advances in the prevention and prenatal treatment of spina bifida. Discoveries (Craiova). 2026 Mar 2;14(1):e222. doi: 10.15190/d.2026.1. PMID: 41799374; PMCID: PMC12967227.
Landolt MA, Strebel NL, Moehrlen U, Ochsenbein N, Strübing N, Burkhardt T, D'Addario C, Pucci M, Bodenmann A, Grünblatt E. Alterations in epigenetic marks and expression of genes related to stress regulation: an exploratory study among newborns after fetal repair of spina bifida aperta. Epigenetics. 2026 Dec 31;21(1):2632976. doi: 10.1080/15592294.2026.2632976. Epub 2026 Mar 8. PMID: 41797309.
Zhu K, Liu H, Zhou K, Cheng T, Mo L, Xu PF, Li Y. A novel zebrafish model unveils folate deficiency disrupts embryonic development via p53-driven cell cycle arrest. J Adv Res. 2026 Mar 5:S2090-1232(26)00188-8. doi: 10.1016/j.jare.2026.02.054. Epub ahead of print. PMID: 41794221.
Koomen LR, Dremmen M, Kik C, van den Berg R, Dronkers W, Eggink AJ, DeKoninck PLJ, Veldhuijzen van Zanten SEM, Deprest J, Eelkman Rooda OHJ, Koudijs S, Spoor JKH. Prevalence of epilepsy and structural brain anomalies in spina bifida aperta. Childs Nerv Syst. 2026 Mar 6;42(1):98. doi: 10.1007/s00381-026-07193-0. PMID: 41790158; PMCID: PMC12966215.
Dutta HK, Barman MP, Gupta P, Kotoky MJ, Acharyya BK, Gogoi JC, Sarmah PP, Chowdhury P, Sabhapondit S, Vora R, Antony AC. Efficacy of tea as an ideal vehicle for therapeutic vitamin replacement in women with low folate and vitamin B12 status in Assam: a placebo-controlled interventional clinical trial. BMJ Nutr Prev Health. 2025 Dec 4;8(2):e001287. doi: 10.1136/bmjnph-2025-001287. PMID: 41789012; PMCID: PMC12957199.
Wang Y, Ryan AK, Naumova AK. No Evidence of Impact of Genetic Sex on Hyperthermia-Induced Neural Tube Defects in Chicken Embryos. Birth Defects Res. 2026 Mar;118(3):e70037. doi: 10.1002/bdr2.70037. PMID: 41787726; PMCID: PMC12963691.
Farmer DL, Kumar P, Reynolds E, Lee SY, Powne AB, Pivetti CD, Zwienenberg M, McLennan AS, Nolta JA, Brown EG, Saadai P, Hirose S, Wang A. Feasibility and safety of cellular therapy for in-utero repair of myelomeningocele (CuRe Trial): a first-in-human, phase 1, single-arm study. Lancet. 2026 Feb 28;407(10531):867-875. doi: 10.1016/S0140-6736(25)02466-3. PMID: 41763744.
Maiz N, Arévalo S, Rodó C, Moreno E, Dalmau M, Meléndez M, Casellas A, Farràs A, Giné C, Mendoza M. Investigating sex-based disparities in fetal spinal neural tube defects: an observational 12 Years-long study. Early Hum Dev. 2026 Feb 23;217:106520. doi: 10.1016/j.earlhumdev.2026.106520. Epub ahead of print. PMID: 41763016.
Li J, Chen B, Liu N, Dong W, Lv D, Li S, Zhu X. Best Evidence Summary of Folic Acid Supplementation for Prevention of Neural Tube Defects in Women of Childbearing Age. Nutrients. 2026 Feb 15;18(4):641. doi: 10.3390/nu18040641. PMID: 41754157; PMCID: PMC12943769.
Botvinik A, Glasner VO, Reches A, Miremberg H, Haratz KK, Brill T, Malki L, Rozenzwaig M, Yaron Y, Levy M. Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis. Prenat Diagn. 2026 Feb 19. doi: 10.1002/pd.70102. Epub ahead of print. PMID: 41714291.
Goyal R, Castro PA, Levin JB, Shim S, Balashova OA, Panoutsopoulos AA, Fuentes NA, Or Mizuno G, Tian L, Borodinsky LN. Vesicular glutamate release is necessary for neural tube formation. J Neurosci. 2026 Feb 18:e0681252026. doi: 10.1523/JNEUROSCI.0681-25.2026. Epub ahead of print. PMID: 41708332.
Tindula G, Mukherjee SK, Ekramullah SM, Arman DM, Islam J, Biswas SK, Rahman MN, Ziauddin M, Ahmed AU, Suchanda HS, Warf BC, Christiani DC, Lemos B, Liang L, Cardenas A, Mazumdar M. Multi-tissue DNA methylation analysis to identify an appropriate surrogate tissue for a unique neurological tissue specific to spina bifida. Clin Epigenetics. 2026 Feb 5;18(1):41. doi: 10.1186/s13148-026-02061-9. PMID: 41645322.
Yoo S, Montazeri A, Bennett D, Bo Y, Chen P, Duthie S, Jensen N, Kaminga A, Lai JS, Li X, MacFarlane AJ, Martinez H, McNulty H, Momoli F, Mossey P, Mullie P, Munger R, Parajuli RP, Kent MP, Rubini M, Senekal M, Sikora L, Stintzi A, Theodoratou E, Wang H, Yajnik C, Yaktine A, Little J. Folate and global health umbrella review series, part 1: methodological framework and syntheses on anaemia and neural tube defects. J Glob Health. 2026 Jan 30;16:04014. doi: 10.7189/jogh.16.04014. PMID: 41612855; PMCID: PMC12856383.
Tessema M, Nane D, Woldeyohannes M, Agbemafle I, McDonald CM, Arnold CD, Fereja M, Challa F, Martinez H, Tesfaye B, Tollera G, Arabi M, Brown KH; Collaborating Laboratories. Folic acid fortification of iodized salt improves the folate status of nonpregnant adult Ethiopian females and does not impair their iodine status: a community-based, household-randomized, dose-response trial. Am J Clin Nutr. 2026 Mar;123(3):101204. doi: 10.1016/j.ajcnut.2026.101204. Epub 2026 Jan 27. PMID: 41611087.
Deng S, Liu X, Chen S, Wan L, Dong W, Kang L. Explore the Role of Choline in the Pathogenesis of Neural Tube Defects. Birth Defects Res. 2026 Feb;118(2):e70019. doi: 10.1002/bdr2.70019. PMID: 41572543.
Feldman MJ, Hereford WJ, Gaskin R, Thrash GW, Hill HM, Jaffery S, Hopson B, Rocque BG, Arynchyna-Smith A, Blount JP. Fortify Alabama: Corn Masa Fortification for Spina Bifida Prevention. Pediatrics. 2026 Feb 1;157(2):e2025073306. doi: 10.1542/peds.2025-073306. PMID: 41570999.
Inkster AM, Bozack AK, Lemos B, Lumour-Mensah T, Mukherjee SK, Ekramullah SM, Arman DM, Islam J, Wang X, Liang L, Finnell RH, Mazumdar M, Cardenas A. Associations of arsenic exposure and folate in maternal leukocyte DNA methylation: a case-control study of mothers with spina-bifida affected children. Environ Health. 2026 Jan 16;25(1):13. doi: 10.1186/s12940-025-01254-8. PMID: 41546076; PMCID: PMC12896015.
Moges S, Kotiso KS, Jaldo MM. The effectiveness of mandatory folic acid fortification compared with pre-fortification periods on reducing neural tube defects (NTDs): a systematic review and meta-analysis. BMC Nutr. 2026 Jan 13;12(1):31. doi: 10.1186/s40795-026-01244-0. PMID: 41526993; PMCID: PMC12888319.
Zhang M, Yu H, Li H, Zhou Y, Liu J. Duration of Folic Acid Supplementation and Adverse Pregnancy Outcomes: A Prospective Multicenter Cohort Study in China. Nutrients. 2025 Dec 26;18(1):81. doi: 10.3390/nu18010081. PMID: 41515197; PMCID: PMC12788132.
Haghani V, Ali SM, Cannizzaro N, Green R, LaSalle JM, Zarbalis KS. Excess prenatal folic acid supplementation alters cortical DNA methylation and gene expression networks. Front Nutr. 2025 Dec 24;12:1699376. doi: 10.3389/fnut.2025.1699376. PMID: 41509541; PMCID: PMC12777089.
Thomas D, Hufft-Martinez BM, Lalwani Z, Pham V, Elmeniawi M, Tran AJ, Xu J, Saadi I, Fakhouri WD. Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell-cell junctions during neural tube formation. Dev Dyn. 2026 Jan 6. doi: 10.1002/dvdy.70109. Epub ahead of print. PMID: 41493130.
Chen Y, Cheng Q, Yang C, Li S, Lin H, Liu J, Jin L, Li Z, Ren A, Wang L. From association to mechanism: Prenatal PFAS Co-exposures induces fetal neural tube defects via autophagy-mediated ferroptosis. J Hazard Mater. 2026 Jan 15;502:140979. doi: 10.1016/j.jhazmat.2025.140979. Epub 2026 Jan 1. PMID: 41485332.
Tian T, Kang N, Fu D, Wang L, Jin L, Li Z, Zhang J, Qiao J, Ren A, Yin S. Potential folate-depleting effect of organochlorine pesticide exposure in elevating homocysteine levels. Environ Pollut. 2026 Mar 1;392:127629. doi: 10.1016/j.envpol.2025.127629. Epub 2025 Dec 31. PMID: 41482193.
Pérez-Pérez E, Rivera-Rivera E, Frontera N, Cedeño-Moran A, Carvajal-Matta C, González J, de Jesús-Espinosa A, Sosa-González I, Mayol Del Valle M. Spina Bifida Incidence Trends: A Comparative Study of Puerto Rico and the United States. Epidemiologia (Basel). 2025 Dec 16;6(4):92. doi: 10.3390/epidemiologia6040092. PMID: 41439850; PMCID: PMC12732084.
Sinha U, Mudgal SK, Patel AK, Patidar V, Kumar S. Mapping the burden prevalence of neural tube defects across Indian regions: a systematic review and meta-analysis. Pan Afr Med J. 2025 Oct 1;52:54. doi: 10.11604/pamj.2025.52.54.48035. PMID: 41427157; PMCID: PMC12716325.
Brooks ER, Hwang SH, White KA, Mukhopadhyay S. GPR161-GLI3 repressor signaling at cilia directs apical constriction and cell fate during cranial neural tube closure. Development. 2025 Dec 15;152(24):dev205171. doi: 10.1242/dev.205171. Epub 2025 Dec 19. PMID: 41417007; PMCID: PMC12752497.
Benjamin RH, Ludorf KL, Allred RP, Patel JR, Nembhard WN, Shaw GM, Carmichael SL, Desrosiers TA, Nestoridi E, Williford EM, Agopian AJ; National Birth Defects Prevention Study and the Birth Defects Study To Evaluate Pregnancy exposureS. Maternal Folic Acid Supplement Use, Folate Intake, and Preterm Birth Among Infants With Spina Bifida. Birth Defects Res. 2025 Dec;117(12):e70008. doi: 10.1002/bdr2.70008. PMID: 41387300; PMCID: PMC12700770.
Ha YJ, Nisal A, Tang I, Lee C, Jhamb I, Wallace C, Howarth R, Schroeder S, Vong KI, Meave N, Jiwani F, Barrows C, Lee S, Jiang N, Patel A, Bagga K, Banka N, Friedman L, Blanco FA, Yu S, Rhee S, Jeong HS, Plutzer I, Major MB, Benoit B, Poüs C, Heffner C, Kibar Z, Bot GM, Northrup H, Au KS, Strain M, Ashley-Koch AE, Finnell RH, Le JT, Meltzer HS, Araujo C, Machado HR, Stevenson RE, Yurrita A, Mumtaz S, Ahmed A, Khara MH, Mutchinick OM, Medina-Bereciartu JR, Hildebrandt F, Melikishvili G, Marwan AI, Capra V, Noureldeen MM, Salem AMS, Issa MY, Zaki MS, Xu L, Lee JE, Shin D, Alkelai A, Shuldiner AR, Kingsmore SF, Murray SA, Gee HY, Miller WT, Tolias KF, Wallingford JB; Spina Bifida Sequencing Consortium; Kim S, Gleeson JG. The contribution of de novo coding mutations to meningomyelocele. Nature. 2025 May;641(8062):419-426. doi: 10.1038/s41586-025-08676-x. Epub 2025 Mar 26. PMID: 40140573; PMCID: PMC12625549.
Fonteles CSR, Enterria-Rosales J, Lin Y, Steele JW, Villarreal-Leal RA, Xiao J, Idowu DI, Burgelin B, Wlodarczyk BJ, Finnell RH, Corradetti B. Amniotic fluid-derived stem cells: potential factories of natural and mimetic strategies for congenital malformations. Stem Cell Res Ther. 2024 Dec 5;15(1):466. doi: 10.1186/s13287-024-04082-8. PMID: 39639397; PMCID: PMC11622670.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. PMID: 38696583; PMCID: PMC11849314.
Previous Publications:
Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Abdel Aleem A, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y, El-Bashir H, Musser JM, Al-Kaabi A, Shaw GM, Khurana E, Suhre K, Mason CE, Elemento O, Finnell RH, Ross ME. Systems biology analysis of human genomes points to key pathways conferring spina bifida risk. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2106844118. doi: 10.1073/pnas.2106844118. PMID: 34916285; PMCID: PMC8713748.
Wolujewicz P, Steele JW, Kaltschmidt JA, Finnell RH, Ross ME. Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back. Genesis. 2021 Nov;59(11):e23459. doi: 10.1002/dvg.23459. Epub 2021 Oct 29. PMID: 34713546.
Abdel Fattah AR, Daza B, Rustandi G, Berrocal-Rubio MÁ, Gorissen B, Poovathingal S, Davie K, Barrasa-Fano J, Cóndor M, Cao X, Rosenzweig DH, Lei Y, Finnell R, Verfaillie C, Sampaolesi M, Dedecker P, Van Oosterwyck H, Aerts S, Ranga A. Actuation enhances patterning in human neural tube organoids. Nat Commun. 2021 May 27;12(1):3192. doi: 10.1038/s41467-021-22952-0. PMID: 34045434; PMCID: PMC8159931.
Finnell RH, Caiaffa CD, Kim SE, Lei Y, Steele J, Cao X, Tukeman G, Lin YL, Cabrera RM, Wlodarczyk BJ. Gene Environment Interactions in the Etiology of Neural Tube Defects. Front Genet. 2021 May 10;12:659612. doi: 10.3389/fgene.2021.659612. PMID: 34040637; PMCID: PMC8143787.
Copp AJ, Greene NDE, Jao J, Zash R, Mohan H, Dontsova V, Serghides L. Dolutegravir and rat whole embryo culture. Birth Defects Res. 2022 Jan 1;114(1):23-24. doi: 10.1002/bdr2.1969. Epub 2021 Dec 1. PMID: 34851540.
Nychyk O, Galea GL, Molè M, Savery D, Greene NDE, Stanier P, Copp AJ. Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension. Dis Model Mech. 2022 Jan 1;15(1):dmm049194. doi: 10.1242/dmm.049194. Epub 2022 Jan 26. PMID: 34842271; PMCID: PMC8807581.
Galea GL, Maniou E, Edwards TJ, Marshall AR, Ampartzidis I, Greene NDE, Copp AJ. Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice. Nat Commun. 2021 Feb 19;12(1):1159. doi: 10.1038/s41467-021-21372-4. Erratum in: Nat Commun. 2021 May 28;12(1):3301. PMID: 33608529; PMCID: PMC7895924.
Leung KY, De Castro SCP, Galea GL, Copp AJ, Greene NDE. Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System. Front Genet. 2021 Jan 25;12:625120. doi: 10.3389/fgene.2021.625120. PMID: 33569080; PMCID: PMC7868403.
D'Souza SW, Copp AJ, Greene NDE, Glazier JD. Maternal Inositol Status and Neural Tube Defects: A Role for the Human Yolk Sac in Embryonic Inositol Delivery? Adv Nutr. 2021 Feb 1;12(1):212-222. doi: 10.1093/advances/nmaa100. PMID: 32892218; PMCID: PMC7849949.
Zhou Y, Crider KS, Yeung LF, Rose CE, Li Z, Berry RJ, Li S, Moore CA. Periconceptional folic acid use prevents both rare and common neural tube defects in China. Birth Defects Res. 2022 Jan 31. doi: 10.1002/bdr2.1983. Epub ahead of print. PMID: 35098705.
Wilson RD, O'Connor DL. Maternal folic acid and multivitamin supplementation: International clinical evidence with considerations for the prevention of folate-sensitive birth defects. Prev Med Rep. 2021 Oct 25;24:101617. doi: 10.1016/j.pmedr.2021.101617. PMID: 34976673; PMCID: PMC8684027.
Fabelo C, He H, Lim FY, Atzinger C, Wong B. Factors impacting surgical decision making between prenatal and postnatal repair for myelomeningocele. Prenat Diagn. 2022 Jan;42(1):27-36. doi: 10.1002/pd.6080. Epub 2021 Dec 20. PMID: 34931327.
Hansen JM, Lucas SM, Ramos CD, Green EJ, Nuttall DJ, Clark DS, Marchant ED, Hancock CR, Piorczynski TB. Valproic acid promotes SOD2 acetylation: a potential mechanism of valproic acid-induced oxidative stress in developing systems. Free Radic Res. 2022 Jan 19:1-15. doi: 10.1080/10715762.2021.2017913. Epub ahead of print. PMID: 34895005.
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. PMID: 23449594
Andrew J Copp, Philip Stanier, Nicholas DE Greene. Neural tube defects: recent advances, unsolved questions, and controversies. The Lancet Neurology. Volume 12, Issue 8, Aug 2013, 799–810.