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Author Details

Yunping Lei
Center for Precision Environmental Health, Baylor College of Medicine
2009
55
20
PMIDPaper TitleJournal TitlePublished Year
38095297Folate regulation of planar cell polarity pathway and F-actin through folate receptor alpha.FASEB J2024
37751845A mutation in TBXT causes congenital vertebral malformations in humans and mice.J Genet Genomics2024
36942736Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.Am J Med Genet A2023
37674888Editorial: Health effects and pathophysiological mechanisms of one-carbon metabolism nutrients intake throughout the life cycle.Front Nutr2023
37143122Functional characterization of age-dependent p16 epimutation reveals biological drivers and therapeutic targets for colorectal cancer.J Exp Clin Cancer Res2023
37364051A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.Hum Mol Genet2023
36849450Excess folic acid intake increases DNA de novo point mutations.Cell Discov2023
33491544Hypermethylation of PI3K-AKT signalling pathway genes is associated with human neural tube defects.Epigenetics2022
36671766<i>KDM6B</i> Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.Biology (Basel)2022
36054333CIC missense variants contribute to susceptibility for spina bifida.Hum Mutat2022
32820034<i>CIC de novo</i> loss of function variants contribute to cerebral folate deficiency by downregulating <i>FOLR1</i> expression.J Med Genet2021
33564133Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.Cell Res2021
33504353Correction to: Genetic analysis of Wnt/PCP genes in neural tube defects.BMC Med Genomics2021
33582009Corrigendum to "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. https://pubmed.ncbi.nlm.nih.gov/29573971/.Mol Genet Metab2021
33748132Somatic and <i>de novo</i> Germline Variants of <i>MEDs</i> in Human Neural Tube Defects.Front Cell Dev Biol2021
34916285Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.Proc Natl Acad Sci U S A2021
34586326De novo ALX4 variant detected in child with non-syndromic craniosynostosis.Braz J Med Biol Res2021
34045434Actuation enhances patterning in human neural tube organoids.Nat Commun2021
34040637Gene Environment Interactions in the Etiology of Neural Tube Defects.Front Genet2021
32710738Maternal Hypertension-Related Genotypes and Congenital Heart Defects.Am J Hypertens2021
32356230Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.Hum Genet2020
31898828Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.Hum Mutat2020
31953529New myotonic dystrophy type 1 mouse model.Cell Res2020
32969478FKBP8 variants are risk factors for spina bifida.Hum Mol Genet2020
32900645DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway.J Genet Genomics2020
32388773Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.Neurogenetics2020
32468575Approaches to studying the genomic architecture of complex birth defects.Prenat Diagn2020
30689296Variants identified in PTK7 associated with neural tube defects.Mol Genet Genomic Med2019
31856834Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13.BMC Med Genomics2019
31849593Whole-Exome Sequencing Identifies Damaging <i>de novo</i> Variants in Anencephalic Cases.Front Neurosci2019
30256984Dominant negative GPR161 rare variants are risk factors of human spina bifida.Hum Mol Genet2019
31346254Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.Cell Res2019
30968606Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring.Mol Genet Genomic Med2019
30689919Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study.J Nutr2019
30689861The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.Hum Mol Genet2019
29732742Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies.Birth Defects Res2018
29976953Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.Cell Res2018
29618362Genetic analysis of Wnt/PCP genes in neural tube defects.BMC Med Genomics2018
29666258Formate rescues neural tube defects caused by mutations in <i>Slc25a32</i>.Proc Natl Acad Sci U S A2018
29573971Digenic variants of planar cell polarity genes in human neural tube defect patients.Mol Genet Metab2018
28288114Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.Nat Genet2017
27066597New Techniques for the Study of Neural Tube Defects.Adv Tech Biol Med2016
27597235Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.Kidney Int2016
25546815Rare LRP6 variants identified in spina bifida patients.Hum Mutat2015
26268606Analysis of archived residual newborn screening blood spots after whole genome amplification.BMC Genomics2015
24632739Identification of novel CELSR1 mutations in spina bifida.PLoS One2014
23592378Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.Hum Mutat2013
23922697Mutations in planar cell polarity gene SCRIB are associated with spina bifida.PLoS One2013
22610794Identification of novel rare mutations of DACT1 in human neural tube defects.Hum Mutat2012
22881375Angiotensinogen gene M235T and T174M polymorphisms and susceptibility of pre-eclampsia: a meta-analysis.Ann Hum Genet2012
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Collaborators

Richard H Finnell
Center for Precision Environmental Health, Baylor College of Medicine
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Li Jin
Fudan University
Co-authored papers 10
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Beijing Friendship Hospital, Capital Medical University
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To Cure A Rose Foundation
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Lund University
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Baylor College of Medicine
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Graeme Benstead-Hume
The Institute of Cancer Research
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Donna M Muzny
Baylor College of Medicine
Co-authored papers 1
Brandi L Cantarel
University of Texas Southwestern Medical Center
Co-authored papers 1
Michael J Bamshad
University of Washington
Co-authored papers 1
Wendy N Nembhard
Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences
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Sanjiv Harpavat
Baylor College of Medicine
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Jianfeng Xu
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Zhandong Liu
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital
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Adrian S Woolf
The University of Manchester
Co-authored papers 1
Richard A Gibbs
Baylor College of Medicine
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James C Mullikin
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Release 1.2