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Richard H. Finnell is a clinical professor of pediatrics in the Dell Medical School. A pediatric geneticist, he has been involved in investigating genetic susceptibility to environmentally induced birth defects, applying stem cell technology to the detection of potential teratogenic compounds in efforts to prevent these birth defects, developing mouse models to understand the pathogenesis of the defects, and using highly innovative approaches to treating these disabilities.

He has authored more than 310 publications in journals such as Science, Nature Genetics, Nature Cell Biology, Proceedings of the National Academy of Sciences and Developmental Cell. His early work with murine embryonic stem cells established the dire embryonic consequences of folate deficiency during embryonic development. The Finnell laboratory is focused on how folic acid transport impacts or modifies the impact of teratogenic agents on embryonic development. This work takes advantage of his training as a pediatric geneticist, as well as a background grounded in developmental and molecular biology and teratology. The Finnell laboratory uses the latest genome editing approaches to create novel transgenic mouse models and to dissect out critical events during embryonic development that result in structural birth defects. He has significant experience working with neural crest cell models and has developed novel 3-D neurocyst culture techniques as well as creating induced pluripotent stem cell from NTD patients that can be used to both screen candidate compounds for their teratogenicity and to better understand their underlying mechanism of action.

The Finnell Laboratory has been fortunate to receive continuous funding from the National Institutes of Health for decades.

Fingerprint Dive into the research topics where Richard Finnell is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Neural Tube Defects Medicine & Life Sciences
Folic Acid Medicine & Life Sciences
Spinal Dysraphism Medicine & Life Sciences
Mothers Medicine & Life Sciences
Genes Medicine & Life Sciences
Valproic Acid Medicine & Life Sciences
Anticonvulsants Medicine & Life Sciences
Embryonic Structures Medicine & Life Sciences

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Research Output 1981 2019

Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants (Cell Research, (2018), 28, 10, (1039-1041), 10.1038/s41422-018-0061-3)

Chen, Z., Lei, Y., Zheng, Y., Aguiar-Pulido, V., Ross, M. E., Peng, R., Jin, L., Zhang, T., Finnell, R. H. & Wang, H., Sep 1 2019, In : Cell Research. 29, 9, 1 p.

Research output: Contribution to journalComment/debate

Molecular Medicine
Neural Tube Defects
Cell Biology
2 Citations (Scopus)

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

Kim, S., Lei, Y., Hwang, S. H., Wlodarczyk, B. J., Mukhopadhyay, S., Shaw, G. M., Ross, M. E. & Finnell, R., Jan 15 2019, In : Human molecular genetics. 28, 2, p. 200-208 9 p.

Research output: Contribution to journalArticle

Spinal Dysraphism
Neural Tube Defects
1 Citation (Scopus)

Folic acid modifies the shape of epithelial cells during morphogenesis via a Folr1 and MLCK dependent mechanism

Martin, J. B., Muccioli, M., Herman, K., Finnell, R. H. & Plageman, T. F., Jan 1 2019, In : Biology Open. 8, 1, bio041160.

Research output: Contribution to journalArticle

Open Access
myosin light chain kinase
Myosin-Light-Chain Kinase
Folic Acid
folic acid

Heritable Spina Bifida in Sheep: A Potential Model for Fetal Repair of Myelomeningocele

Steele, J. W., Bayliss, S., Bayliss, J., Lin, Y. L., Wlodarczyk, B. J., Cabrera, R. M., Asfaw, Y. G., Cummings, T. J., Finnell, R. & George, T., Jan 1 2019, In : Journal of Pediatric Surgery.

Research output: Contribution to journalArticle

Spinal Dysraphism
Anatomic Models

Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring

the National Birth Defects Prevention Study, Jun 2019, In : Molecular Genetics and Genomic Medicine. 7, 6, e688.

Research output: Contribution to journalArticle

Open Access
Neural Tube Defects
Celiac Disease
Genetic Markers
HLA Antigens