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The American Journal of Clinical Nutrition|October 6, 2020
Knowledge gaps in understanding the metabolic and clinical effects of excess folates/folic acid: a summary, and perspectives, from an NIH workshopPadma Maruvada, Patrick J Stover, Joel B Mason, et al.
Human Molecular Genetics|January 29, 2019
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulationYoussef A Kousa, Huiping Zhu, Walid D Fakhouri, et al.
Birth Defects Research|July 23, 2019
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental dataMary M Jenkins, Lynn M Almli, Faith Pangilinan, et al.
Applied Clinical Informatics|January 3, 2024
Structure and Funding of Clinical Informatics Fellowships: A National Survey of Program DirectorsTushar N Patel, Aaron J Chaise, John J Hanna, et al.
American Journal of Medical Genetics. Part A|March 21, 2023
Exome-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 variantsPagna Sok, Aniko Sabo, Lynn M Almli, et al.
Nature Genetics|March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansHsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.
Nature|March 27, 2025
The contribution of de novo coding mutations to meningomyeloceleYoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|September 13, 2012
The mammalian gene function resource: the International Knockout Mouse ConsortiumAllan Bradley, Konstantinos Anastassiadis, Abdelkader Ayadi, et al.
Genetics in Medicine Open|September 30, 2024
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traitsPaola Nicoletti, Samreen Zafer, Lital Matok, et al.
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