Bontrager, Jordan
https://orcid.org/0009-0001-1549-0255
Mayo Clinic
University of Rochester Medicine
Citations 2
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy
Bontrager, Jordan , White, Amy , Brigatti, Karlla W. , Laxen, William , Loken, Perry R , Grider, Tiffany , Oglesbee, Devin , Gavrilov, Dimitar K. , Tortorelli, Silvia , Hall, Patricia , Matern, Dietrich , Lauer, Estelle , Pickart, Angela M. , Salsbery, Kyle , Smith, Christy , Albright, Alan R. , Mukherjee‐Clavin, Bipasha , Parmar, Pooja , Mhoon, Justin T. , Massie, Rami , Pilon-Cadieux, Camille , Gauthier, A , Nguyen, Cam‐Tu Émilie , Koehler, Alanna E. , Carson, Vincent J. , Herrmann, D. , Schultz, Matthew J. , Bontrager, Jordan Elliott , White, Amy L , Hall, Patricia L , Lauer, Emily , Pickart, Angela , Niu, Zhiyv , Smith, Christy , Albright, Amy , Mukherjee-Clavin, Bipasha , Parmar, Pooja , Mhoon, Justin , Massie, Rami , Pilon-Cadieux, Camille , Gauthier, Amelie , Alawneh, Josef , Emilie Nguyen, Cam-Tu , Shy, Michael E , Koehler, Alanna E , Carson, Vincent J , Herrmann, David N , Schultz, Matthew J , Oglesbee, Devin , Niu, Zhiyv , Shy, Michael E.
Neurology | November 12, 2025 | Volume: 105 | Issue: 11 | Pages: No page available
Molecular characterization and reclassification of a 1.18Mbp DMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy
Zepeda‐Mendoza, Cinthya , Bontrager, Jordan , Fisher, Camille , McDonald, Amber , George‐Abraham, Jaya K. , Hasadsri, Linda
No container title available | November 10, 2020 | Volume: No volume available | Issue: No issue available | Pages: No page available
10.22541/au.160503137.79086890/v1
A 2-month-old male harboring a duplication of DMD exons 1-7 classified as pathogenic by an outside institution presented with mildly elevated CK levels; molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK levels, further supporting our reclassification.