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Journal of Genetic Counseling|April 13, 2026
Assessing genetic counselors' teaching experience and approaches to teaching in the classroomJessica Doxey, Bonnie J Baty, Katharine Bisordi, et al.
Molecular Genetics and Metabolism|February 20, 2026
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic reviewMyriam Boueri, Jessica Doxey, Tracy Boggs, et al.
JIMD Reports|November 26, 2025
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe DiseaseAlicia Khazzeka, Rebecca L Koch, Jeong-A Lim, et al.
Pediatric Neurology|September 5, 2025
Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental PerspectivesMyriam Boueri, Allison Paltzer, Erin Huggins, et al.
Genetics in Medicine Open|May 25, 2026
Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scoresAnna Paschall, Rebecca L Koch, Alisha M Mavis, et al.
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