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JPGN Reports|May 19, 2025
Inflammatory bowel disease and hereditary hemochromatosis: A case seriesJackson Fein, Amber Hildreth, Lillian J Choi, et al.
JPGN Reports|May 18, 2023
Distinguishing Autoimmune Hepatitis From Steatohepatitis in Adolescents With Obesity and Positive Screening Alanine AminotransferaseAmber Hildreth, Warren L Shapiro, Brett M Lowenthal, et al.
Case Reports in Genetics|August 30, 2018
Biallelic Mismatch Repair Deficiency in an Adolescent FemaleAmber Hildreth, Mark A Valasek, Irene Thung, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals|March 26, 2016
Decreased Pregnane X Receptor Expression in Children with Active Crohn's DiseaseValentina Shakhnovich, Carrie Vyhlidal, Craig Friesen, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.
SAGE Open Medical Case Reports|September 5, 2023
A neonatal case of vascular ring with Alagille syndromePei-Shan Lee, Jose A Silva Sepulveda, Miguel Del Campo, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 20, 2020
Hepatopulmonary Syndrome in an Adolescent With Insidious Hypoxia and Small Intrahepatic Portal Venous Shunts: Posttransplant Benefit From SildenafilVoytek Slowik, Amber Hildreth, M Cristina Pacheco, et al.
NPJ Genomic Medicine|April 13, 2018
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalizationLauge Farnaes, Amber Hildreth, Nathaly M Sweeney, et al.
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.
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