Publications by authors named "Richard H Finnell"

100Publications

MiR-302 Regulates Glycolysis to Control Cell-Cycle during Neural Tube Closure.

Int J Mol Sci 2020 Oct 13;21(20). Epub 2020 Oct 13.

Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.3390/ijms21207534DOI Listing
October 2020

FKBP8 variants are risk factors for spina bifida.

Hum Mol Genet 2020 Sep 24. Epub 2020 Sep 24.

Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, 77031, USA.

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http://dx.doi.org/10.1093/hmg/ddaa211DOI Listing
September 2020

loss of function variants contribute to cerebral folate deficiency by downregulating expression.

J Med Genet 2020 Aug 20. Epub 2020 Aug 20.

Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA

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http://dx.doi.org/10.1136/jmedgenet-2020-106987DOI Listing
August 2020

Maternal hypertension-related genotypes and congenital heart defects.

Am J Hypertens 2020 Jul 25. Epub 2020 Jul 25.

Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.

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http://dx.doi.org/10.1093/ajh/hpaa116DOI Listing
July 2020

Approaches to studying the genomic architecture of complex birth defects.

Prenat Diagn 2020 May 28. Epub 2020 May 28.

Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/pd.5760DOI Listing
May 2020

Male-to-female ratios among NTDs and women's periconceptional intake of folic acid.

Birth Defects Res 2020 Oct 16;112(16):1187-1193. Epub 2020 May 16.

Baylor College of Medicine, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/bdr2.1708DOI Listing
October 2020

Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.

Neurogenetics 2020 Jul 9;21(3):217-225. Epub 2020 May 9.

Institute of Reproductive and Child Health, National Health Commission Key Laboratory for Reproductive Health; Department of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Peking University, Beijing, 100191, China.

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http://dx.doi.org/10.1007/s10048-020-00613-6DOI Listing
July 2020

Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.

Hum Genet 2020 Oct 30;139(10):1299-1314. Epub 2020 Apr 30.

Ministry of Health Key Laboratory of Reproductive Health, Institute of Reproductive and Child Health, Peking University, Beijing, 100191, China.

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http://dx.doi.org/10.1007/s00439-020-02172-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487040PMC
October 2020

One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?

Biochimie 2020 Jun 13;173:27-32. Epub 2020 Feb 13.

Center for Precision Environmental Health, Baylor College of Medicine, Houston, TX, 77030, USA; Department of Molecular and Cellular Biology, Molecular and Human Genetics, and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2020.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253344PMC
June 2020

Inhibiting MARSs reduces hyperhomocysteinemia-associated neural tube and congenital heart defects.

EMBO Mol Med 2020 Mar 31;12(3):e9469. Epub 2020 Jan 31.

State Key Lab of Genetic Engineering, School of Life Sciences and Institutes of Biomedical Sciences, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, China.

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http://dx.doi.org/10.15252/emmm.201809469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059139PMC
March 2020

New myotonic dystrophy type 1 mouse model.

Cell Res 2020 02;30(2):99-100

Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1038/s41422-020-0276-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015057PMC
February 2020

Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13.

BMC Med Genomics 2019 12 19;12(1):196. Epub 2019 Dec 19.

Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, 200062, China.

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http://dx.doi.org/10.1186/s12920-019-0642-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923877PMC
December 2019

Whole-Exome Sequencing Identifies Damaging Variants in Anencephalic Cases.

Front Neurosci 2019 29;13:1285. Epub 2019 Nov 29.

Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, United States.

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http://dx.doi.org/10.3389/fnins.2019.01285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896715PMC
November 2019

Low folate concentration impacts mismatch repair deficiency in neural tube defects.

Epigenomics 2020 01 26;12(1):5-18. Epub 2019 Nov 26.

Beijing Municipal Key Laboratory of Child Development & Nutriomics, Capital Institute of Pediatrics, Beijing 100020, China.

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http://dx.doi.org/10.2217/epi-2019-0279DOI Listing
January 2020

Upregulation of reduced folate carrier by vitamin D enhances brain folate uptake in mice lacking folate receptor alpha.

Proc Natl Acad Sci U S A 2019 08 12;116(35):17531-17540. Epub 2019 Aug 12.

Department of Pharmaceutical Sciences, Leslie Dan Faculty of Pharmacy, University of Toronto, Toronto, ON M5S 3M2, Canada;

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http://dx.doi.org/10.1073/pnas.1907077116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717308PMC
August 2019

The interaction of maternal diabetes with mutations that affect folate metabolism and how they affect the development of neural tube defects in mice.

Dev Dyn 2019 10 24;248(10):900-917. Epub 2019 Aug 24.

Neurodevelopment Research Group, Institute of Biomedicine of Seville/Hospital Virgen del Rocio/US/CSIC, Sevilla, Spain.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/dvdy.92
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http://dx.doi.org/10.1002/dvdy.92DOI Listing
October 2019

Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.

Cell Res 2019 Sep;29(9):776

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, 200011, China.

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http://dx.doi.org/10.1038/s41422-019-0201-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796949PMC
September 2019

Heritable spina bifida in sheep: A potential model for fetal repair of myelomeningocele.

J Pediatr Surg 2020 Mar 29;55(3):475-481. Epub 2019 Jun 29.

Department of Neurosurgery/Pediatric Neurosurgery, Dell Medical School, Dell Children's Medical Center, Austin, TX 78712. Electronic address:

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http://dx.doi.org/10.1016/j.jpedsurg.2019.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935438PMC
March 2020

Variants identified in PTK7 associated with neural tube defects.

Mol Genet Genomic Med 2019 04 28;7(4):e00584. Epub 2019 Jan 28.

Department of Nutritional Sciences, Dell Pediatric Research Institute, University of Texas at Austin Dell Medical School, Austin, Texas.

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http://doi.wiley.com/10.1002/mgg3.584
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http://dx.doi.org/10.1002/mgg3.584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465732PMC
April 2019

Rare mutations of from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling.

Clin Sci (Lond) 2019 01 22;133(2):225-238. Epub 2019 Jan 22.

Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai 200011, China

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http://clinsci.org/lookup/doi/10.1042/CS20180842
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http://dx.doi.org/10.1042/CS20180842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365624PMC
January 2019

MicroRNA-197 controls ADAM10 expression to mediate MeCP2's role in the differentiation of neuronal progenitors.

Cell Death Differ 2019 10 18;26(10):1863-1879. Epub 2018 Dec 18.

Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, 200011, Shanghai, China.

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http://dx.doi.org/10.1038/s41418-018-0257-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748079PMC
October 2019

Metabolome-wide association study of anti-epileptic drug treatment during pregnancy.

Toxicol Appl Pharmacol 2019 01 4;363:122-130. Epub 2018 Dec 4.

Clinical Biomarkers Laboratory, Division of Pulmonary, Allergy, and Critical Care Medicine, Emory University School of Medicine, Atlanta, GA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0041008X183053
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http://dx.doi.org/10.1016/j.taap.2018.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7172934PMC
January 2019

Overview on neural tube defects: From development to physical characteristics.

Birth Defects Res 2019 11 12;111(19):1455-1467. Epub 2018 Nov 12.

Department of Pediatrics, The University of Texas at Austin Dell Medical School, Austin, Texas.

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http://doi.wiley.com/10.1002/bdr2.1380
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http://dx.doi.org/10.1002/bdr2.1380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511489PMC
November 2019

Teratogenicity of valproic acid and its constitutional isomer, amide derivative valnoctamide in mice.

Birth Defects Res 2019 08 16;111(14):1013-1023. Epub 2018 Oct 16.

Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas.

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http://doi.wiley.com/10.1002/bdr2.1406
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http://dx.doi.org/10.1002/bdr2.1406DOI Listing
August 2019

Dominant negative GPR161 rare variants are risk factors of human spina bifida.

Hum Mol Genet 2019 01;28(2):200-208

Department of Pediatrics, Dell Pediatric Research Institute, University of Texas at Austin Dell Medical School, Austin, TX, USA.

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http://dx.doi.org/10.1093/hmg/ddy339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321953PMC
January 2019

Tissue biomechanics during cranial neural tube closure measured by Brillouin microscopy and optical coherence tomography.

Birth Defects Res 2019 08 21;111(14):991-998. Epub 2018 Sep 21.

Fischell Department of Bioengineering, University of Maryland, Maryland.

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http://dx.doi.org/10.1002/bdr2.1389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428642PMC
August 2019

Combining mouse embryonic stem cells and zebrafish embryos to evaluate developmental toxicity of chemical exposure.

Reprod Toxicol 2018 10 10;81:220-228. Epub 2018 Aug 10.

Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, TX 78723, United States; Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, United States. Electronic address:

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http://dx.doi.org/10.1016/j.reprotox.2018.07.080DOI Listing
October 2018

Combined effects of (E404D) and (R409H) cause metabolic defects in primary cardiac malignant tumor.

Cell Death Discov 2018 23;4:18. Epub 2018 Jul 23.

1Institute of Reproduction and Development at Obstetrics & Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1038/s41420-018-0072-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056498PMC
July 2018

Generation of integration-free induced pluripotent stem cells from a patient with spina bifida.

Stem Cell Res 2018 08 17;31:27-30. Epub 2018 May 17.

Department of Pediatrics, Dell Pediatric Research Institute, Dell Medical School, University of Texas at Austin, Austin, TX 78723, United States. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.05.007DOI Listing
August 2018

Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.

Cell Res 2018 10 5;28(10):1039-1041. Epub 2018 Jul 5.

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, 200011, China.

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http://dx.doi.org/10.1038/s41422-018-0061-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170406PMC
October 2018

Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies.

Birth Defects Res 2018 07 6;110(12):973-981. Epub 2018 May 6.

Institute of Reproductive and Child Health, Ministry of Health Key Laboratory of Reproductive Health, Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China.

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http://dx.doi.org/10.1002/bdr2.1334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276117PMC
July 2018

Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid.

Birth Defects Res 2018 07 6;110(12):982-993. Epub 2018 May 6.

Institute of Developmental Biology & Molecular Medicine, School of Life Sciences, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1002/bdr2.1336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320695PMC
July 2018

Formate rescues neural tube defects caused by mutations in .

Proc Natl Acad Sci U S A 2018 05 16;115(18):4690-4695. Epub 2018 Apr 16.

Department of Pediatrics, Dell Pediatric Research Institute, Dell Medical School, University of Texas at Austin , Austin, TX 78723;

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http://dx.doi.org/10.1073/pnas.1800138115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939102PMC
May 2018

Genetic analysis of Wnt/PCP genes in neural tube defects.

BMC Med Genomics 2018 04 4;11(1):38. Epub 2018 Apr 4.

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, 200011, China.

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http://dx.doi.org/10.1186/s12920-018-0355-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885375PMC
April 2018

Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects.

Epigenomics 2018 07 28;10(7):891-901. Epub 2018 Mar 28.

Institute of Reproductive & Child Health, Ministry of Health Key Laboratory of Reproductive Health, Department of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, PR China.

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http://dx.doi.org/10.2217/epi-2018-0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6077761PMC
July 2018

Digenic variants of planar cell polarity genes in human neural tube defect patients.

Mol Genet Metab 2018 05 18;124(1):94-100. Epub 2018 Mar 18.

Institute of Reproductive and Child Health, Ministry of Health Key Laboratory of Reproductive Health, Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966321PMC
May 2018

Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.

Hum Genet 2018 Mar 8;137(3):195-202. Epub 2018 Feb 8.

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, 200011, China.

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http://dx.doi.org/10.1007/s00439-017-1864-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876139PMC
March 2018

A missense mutation in is associated with decreased risk for congenital heart defects and may increase cellular uptake of vitamin B12 via Megalin.

Oncotarget 2017 Aug 19;8(33):55216-55229. Epub 2017 Jul 19.

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China.

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http://dx.doi.org/10.18632/oncotarget.19377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589654PMC
August 2017

Regulation of Reduced Folate Carrier (RFC) by Vitamin D Receptor at the Blood-Brain Barrier.

Mol Pharm 2017 11 26;14(11):3848-3858. Epub 2017 Sep 26.

Department of Pharmaceutical Sciences, Leslie Dan Faculty of Pharmacy, University of Toronto , Toronto, Ontario M5S 3M2, Canada.

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http://dx.doi.org/10.1021/acs.molpharmaceut.7b00572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952265PMC
November 2017

Impact of selective serotonin reuptake inhibitors on neural crest stem cell formation.

Toxicol Lett 2017 Nov 24;281:20-25. Epub 2017 Aug 24.

Dell Pediatric Research Institute, The University of Texas at Austin, Austin, TX 78712, United States. Electronic address:

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http://dx.doi.org/10.1016/j.toxlet.2017.08.012DOI Listing
November 2017

Folate-dependent methylation of septins governs ciliogenesis during neural tube closure.

FASEB J 2017 08 21;31(8):3622-3635. Epub 2017 Apr 21.

Department of Pediatrics, Dell Pediatric Research Institute, The University of Texas at Austin Dell Medical School, Austin, Texas, USA;

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http://dx.doi.org/10.1096/fj.201700092RDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503710PMC
August 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 9;42(7):1972-1982. Epub 2017 Mar 9.

Faculty of Medicine, School of Pharmacy, Institute of Drug Research, The Hebrew University of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s11064-017-2216-xDOI Listing
July 2017

Ultrasound-guided spectral photoacoustic imaging of hemoglobin oxygenation during development.

Biomed Opt Express 2017 Feb 10;8(2):757-763. Epub 2017 Jan 10.

Department of Biomedical Engineering, The University of Texas at Austin, 1 University Station, Austin, TX 78712, USA; Currently with the School of Electrical and Computer Engineering, Georgia Institute of Technology, 777 Atlantic Drive NW, Atlanta, GA 30332, USA.

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http://dx.doi.org/10.1364/BOE.8.000757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330552PMC
February 2017

Genomic approaches to the assessment of human spina bifida risk.

Birth Defects Res 2017 01;109(2):120-128

Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas.

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http://dx.doi.org/10.1002/bdra.23592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388593PMC
January 2017

Identification of vascular disruptor compounds by analysis in zebrafish embryos and mouse embryonic endothelial cells.

Reprod Toxicol 2017 06 10;70:60-69. Epub 2016 Nov 10.

Department of Biology and Biochemistry, Center for Nuclear Receptors and Cell Signaling, University of Houston, Houston, TX 77204, USA; Department of Pharmacological and Pharmaceutical Sciences, University of Houston, Houston, TX 77204, USA. Electronic address:

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http://dx.doi.org/10.1016/j.reprotox.2016.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425326PMC
June 2017

Genetic analysis of rare coding mutations of in congenital heart and neural tube defects in Chinese people.

Clin Sci (Lond) 2016 Dec 18;130(24):2329-2340. Epub 2016 Oct 18.

State Key Laboratory of Genetic Engineering, MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai 200438, China

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http://dx.doi.org/10.1042/CS20160686DOI Listing
December 2016

Remembering Edward J. Lammer, MD.

Am J Med Genet A 2016 Nov 2;170(11):2767-2768. Epub 2016 Aug 2.

Department of Pediatrics, Stanford University School of Medicine.

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http://doi.wiley.com/10.1002/ajmg.a.37865
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http://dx.doi.org/10.1002/ajmg.a.37865DOI Listing
November 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 Aug 11;106(8):685-95. Epub 2016 May 11.

Institute of Reproductive and Child Health/Ministry of Health Key Laboratory of Reproductive Health, Department of Epidemiology and Biostatistics, Peking University, Beijing, China.

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http://dx.doi.org/10.1002/bdra.23517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983204PMC
August 2016

New Techniques for the Study of Neural Tube Defects.

Adv Tech Biol Med 2016 Feb 26;4(1). Epub 2015 Dec 26.

Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas; Dell Children's Medical Center, Austin, Texas.

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http://dx.doi.org/10.4172/2379-1764.1000157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826067PMC
February 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 22;106(3):201-7. Epub 2016 Feb 22.

School of Biomedical Sciences, University of Queensland, Brisbane, Australia.

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http://dx.doi.org/10.1002/bdra.23483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4801756PMC
March 2016

Comparative teratogenicity analysis of valnoctamide, risperidone, and olanzapine in mice.

Bipolar Disord 2015 Sep 20;17(6):615-25. Epub 2015 Aug 20.

Department of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Austin, TX, USA.

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http://dx.doi.org/10.1111/bdi.12325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631615PMC
September 2015

Analysis of archived residual newborn screening blood spots after whole genome amplification.

BMC Genomics 2015 Aug 13;16:602. Epub 2015 Aug 13.

Department of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, 1400 Barbara Jordan Blvd, Austin, TX, 78723, USA.

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http://dx.doi.org/10.1186/s12864-015-1747-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535253PMC
August 2015

Rfx2 is required for spermatogenesis in the mouse.

Genesis 2015 Sep 18;53(9):604-611. Epub 2015 Aug 18.

Department of Nutritional Sciences, The Dell Pediatric Research Institute, The University of Texas at Austin, Texas.

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http://dx.doi.org/10.1002/dvg.22880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744581PMC
September 2015

Developments in our understanding of the genetic basis of birth defects.

Birth Defects Res A Clin Mol Teratol 2015 Aug 28;103(8):680-91. Epub 2015 May 28.

Division of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/bdra.23385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537658PMC
August 2015

Pharmacodynamic and pharmacokinetic analysis of CNS-active constitutional isomers of valnoctamide and sec-butylpropylacetamide--Amide derivatives of valproic acid.

Epilepsy Behav 2015 May 8;46:72-8. Epub 2015 Apr 8.

School of Pharmacy, Institute for Drug Research, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel; David R. Bloom Center for Pharmacy, The Hebrew University of Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.02.040DOI Listing
May 2015

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 12;26(4):312-8. Epub 2014 Nov 12.

Department of Nutritional Sciences, Dell Pediatric Research Institute, University of Texas, Austin, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09552863140022
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http://dx.doi.org/10.1016/j.jnutbio.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375028PMC
April 2015

Rare LRP6 variants identified in spina bifida patients.

Hum Mutat 2015 Mar;36(3):342-9

Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas.

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http://dx.doi.org/10.1002/humu.22750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361299PMC
March 2015

Levels of PAH-DNA adducts in cord blood and cord tissue and the risk of fetal neural tube defects in a Chinese population.

Neurotoxicology 2015 Jan 15;46:73-8. Epub 2014 Dec 15.

Institute of Reproductive and Child Health and Ministry of Health Key Laboratory of Reproductive Health, Peking University, Beijing 100191, China; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China. Electronic address:

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http://dx.doi.org/10.1016/j.neuro.2014.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339482PMC
January 2015

Levels of polycyclic aromatic hydrocarbons in maternal serum and risk of neural tube defects in offspring.

Environ Sci Technol 2015 Jan 23;49(1):588-96. Epub 2014 Dec 23.

Institute of Reproductive and Child Health/Ministry of Health Key Laboratory of Reproductive Health, School of Public Health, Peking University , Beijing 100191, People's Republic of China.

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http://dx.doi.org/10.1021/es503990vDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291766PMC
January 2015

Enantioselective pharmacodynamic and pharmacokinetic analysis of two chiral CNS-active carbamate derivatives of valproic acid.

Epilepsia 2014 Dec 29;55(12):1944-52. Epub 2014 Nov 29.

Faculty of Medicine, Institute for Drug Research, School of Pharmacy, The Hebrew University of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1111/epi.12857DOI Listing
December 2014

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 13;100(8):623-32. Epub 2014 Aug 13.

Department of Pharmacology, Weill Cornell Medical College, New York, New York; Program in Pharmacology, Weill Cornell Medical College, New York, New York.

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http://dx.doi.org/10.1002/bdra.23272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4146720PMC
August 2014

Brief report novel mechanism for valproate-induced teratogenicity.

Birth Defects Res A Clin Mol Teratol 2014 Aug 26;100(8):592-7. Epub 2014 Jul 26.

Department of Molecular Biosciences, University of Texas, Austin, Texas.

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http://doi.wiley.com/10.1002/bdra.23277
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http://dx.doi.org/10.1002/bdra.23277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396868PMC
August 2014

A critical role of noggin in developing folate-nonresponsive NTD in Fkbp8 -/- embryos.

Childs Nerv Syst 2014 Aug 10;30(8):1343-53. Epub 2014 May 10.

Developmental Neurobiology Laboratory, Department of Pediatric Neurosurgery, Developmental Biology Program, Lurie Children's Research Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, 60614, USA.

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http://dx.doi.org/10.1007/s00381-014-2428-1DOI Listing
August 2014

Identification of novel CELSR1 mutations in spina bifida.

PLoS One 2014 14;9(3):e92207. Epub 2014 Mar 14.

Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas, United States of America; Department of Chemistry, College of Natural Sciences, The University of Texas at Austin, Austin, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0092207PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3954890PMC
November 2014

Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity.

Toxicol Appl Pharmacol 2014 Feb 30;275(1):22-7. Epub 2013 Dec 30.

Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, 2121 West Holcombe Blvd., Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.taap.2013.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943866PMC
February 2014

Maternal-fetal metabolic gene-gene interactions and risk of neural tube defects.

Mol Genet Metab 2014 Jan 18;111(1):46-51. Epub 2013 Nov 18.

Dell Pediatric Research Institute, Department of Nutritional Sciences, University of Texas at Austin, Austin, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394735PMC
January 2014

Stereoselective anticonvulsant and pharmacokinetic analysis of valnoctamide, a CNS-active derivative of valproic acid with low teratogenic potential.

Epilepsia 2014 Feb 6;55(2):353-61. Epub 2013 Dec 6.

Faculty of Medicine, School of Pharmacy, Institute for Drug Research, The Hebrew University of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1111/epi.12480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963464PMC
February 2014

Neural tube defects, folate, and immune modulation.

Birth Defects Res A Clin Mol Teratol 2013 Sep;97(9):602-609

School of Biomedical Sciences, The University of Queensland, St Lucia, Brisbane, Australia.

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http://dx.doi.org/10.1002/bdra.23177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053177PMC
September 2013

Mutations in planar cell polarity gene SCRIB are associated with spina bifida.

PLoS One 2013 26;8(7):e69262. Epub 2013 Jul 26.

Dell Pediatric Research Institute, Department of Nutritional Sciences, the University of Texas at Austin, Austin, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0069262PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724847PMC
April 2014

Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.

Birth Defects Res A Clin Mol Teratol 2013 Sep 2;97(9):597-601. Epub 2013 Aug 2.

Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas.

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http://dx.doi.org/10.1002/bdra.23163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877942PMC
September 2013

Stereoselective pharmacodynamic and pharmacokinetic analysis of sec-Butylpropylacetamide (SPD), a new CNS-active derivative of valproic acid with unique activity against status epilepticus.

J Med Chem 2013 Aug 7;56(16):6467-77. Epub 2013 Aug 7.

Institute for Drug Research, Faculty of Medicine, School of Pharmacy, The Hebrew University of Jerusalem, Israel.

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http://dx.doi.org/10.1021/jm4007565DOI Listing
August 2013

The continuing challenge of understanding, preventing, and treating neural tube defects.

Science 2013 Mar;339(6123):1222002

Howard Hughes Medical Institute, The University of Texas at Austin, Austin, TX 78712, USA.

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http://dx.doi.org/10.1126/science.1222002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677196PMC
March 2013

Levels of PAH-DNA adducts in placental tissue and the risk of fetal neural tube defects in a Chinese population.

Reprod Toxicol 2013 Jun 15;37:70-5. Epub 2013 Feb 15.

Department of Epidemiology and Health Statistics, School of Public Health, Peking University, Beijing 100191, China.

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http://dx.doi.org/10.1016/j.reprotox.2013.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040017PMC
June 2013

Elevated complement factor C5a in maternal and umbilical cord plasma in preeclampsia.

J Reprod Immunol 2013 Apr 14;97(2):211-6. Epub 2013 Feb 14.

School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; School of Medicine, The University of Queensland, Brisbane, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S01650378130000
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http://dx.doi.org/10.1016/j.jri.2012.11.006DOI Listing
April 2013

Functional regulation of P-glycoprotein at the blood-brain barrier in proton-coupled folate transporter (PCFT) mutant mice.

FASEB J 2013 Mar 4;27(3):1167-75. Epub 2012 Dec 4.

Department of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Austin, TX 78723, USA.

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http://www.fasebj.org/doi/10.1096/fj.12-218495
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http://dx.doi.org/10.1096/fj.12-218495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574287PMC
March 2013

Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study.

Am J Epidemiol 2012 Dec 6;176(12):1101-9. Epub 2012 Nov 6.

Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, University of Texas, Houston, TX, USA.

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https://academic.oup.com/aje/article-lookup/doi/10.1093/aje/
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http://dx.doi.org/10.1093/aje/kws190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3571234PMC
December 2012

Arsenic urinary speciation in Mthfr deficient mice injected with sodium arsenate.

Toxicol Lett 2012 Dec 30;215(3):214-8. Epub 2012 Oct 30.

Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.toxlet.2012.10.014DOI Listing
December 2012