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American Journal of Medical Genetics. Part A|October 14, 2016
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22Heather M Byers, Margaret P Adam, Amy LaCroix, et al.
American Journal of Obstetrics and Gynecology|March 19, 2013
A proposed method to predict preterm birth using clinical data, standard maternal serum screening, and cholesterolBrandon W Alleman, Amanda R Smith, Heather M Byers, et al.
Pediatric Research|January 20, 2012
Variations in CRHR1 are associated with persistent pulmonary hypertension of the newbornHeather M Byers, John M Dagle, Jonathan M Klein, et al.
Journal of Inherited Metabolic Disease|February 1, 2019
Factor VIII and vWF deficiency in STT3A-CDGIrene J Chang, Heather M Byers, Bobby G Ng, et al.
Molecular Genetics and Metabolism|March 8, 2018
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulasHong Li, Heather M Byers, Alicia Diaz-Kuan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 26, 2017
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiencyHeather M Byers, Lauren H Mohnach, Patricia Y Fechner, et al.
The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2021
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delayUirá Souto Melo, Devon Bonner, Kevin C Kent Lloyd, et al.
Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.
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