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JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.Annals of Diagnostic Pathology|May 15, 2021
Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphomaAdam J Guenzel, James B Smadbeck, Crystal L Golden, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe diseaseAdam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.Nature Medicine|September 5, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check programHeidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, et al.Clinical Genetics|July 11, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variantsFrancesca Furia, Amanda M Levy, Miel Theunis, et al.Pageof 2