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Cold Spring Harbor Molecular Case Studies|October 19, 2019
Biallelic loss of GNAS in a patient with pediatric medulloblastomaMari J Tokita, Shareef Nahas, Benjamin Briggs, et al.Cold Spring Harbor Molecular Case Studies|December 28, 2022
Rapid genome sequencing identifies novel variants in complement factor IKatherine M Rodriguez, Jordan Vaught, Michelle Dilley, et al.Circulation. Genomic and Precision Medicine|August 28, 2020
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular DiseaseZahra Aryan, Attila Szanto, Angeliki Pantazi, et al.Open Forum Infectious Diseases|July 29, 2021
Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular InfectionsNanda Ramchandar, Jessica Burns, Nicole G Coufal, et al.Molecular Genetics and Metabolism|April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)Janet Thomas, Harvey Levy, Stephen Amato, et al.Journal of Clinical and Translational Science|December 1, 2021
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing programSabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, et al.Nature|November 13, 2015
Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesisShiran Rabinovich, Lital Adler, Keren Yizhak, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe diseaseYoav H Messinger, Nancy J Mendelsohn, William Rhead, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaNicola Longo, David Dimmock, Harvey Levy, et al.Frontiers in Pediatrics|March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient settingLauren Thompson, Austin Larson, Lisa Salz, et al.Pageof 13