Selected Publications

Finding the genetic mechanisms of folate deficiency and neural tube defects – Leaving no stone unturned.

Au KS, Findley TO, Northrup H. Finding the genetic mechanisms of folate deficiency and neural tube defects – Leaving no stone unturned. American Journal of Medical Genetics Part A. 2017 Sep 26. PMID: 28944587

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Mutations in folate transporter genes and risk for human myelomeningocele.

Findley TO, Tenpenny JC, O’Byrne MR, Morrison AC, Hixson JE, Northrup H, Au KS. Mutations in folate transporter genes and risk for human myelomeningocele. American Journal of Medical Genetics Part A. 2017 Sep 26. PMID: 28948692

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The value of serial newborn screening for congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit.

Findley TO, Shah A, Bell Ca, Khan A. The Value of Serial Newborn Screening for Congenital Hypothyroidism Using Thyroxine (T4) in the Neonatal Intensive Care Unit. J Perinatol 2019 Jun 18. PMID: 31213638

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The Current State of Prenatal Detection of Genetic Conditions in Congenital Heart Defects.

Findley, T., & Northrup, H. (2020). The current state of prenatal detection of genetic conditions in congenital heart defects. Translational Pediatrics, 0. doi:10.21037/tp-20-315