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Scientific Reports|October 29, 2025
Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patientsRosanna J Jiang, Lucy Chen, Kimberly Amburgey, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 12, 2011
TRPM7 is required within zebrafish sensory neurons for the activation of touch-evoked escape behaviorsSean E Low, Kimberly Amburgey, Eric Horstick, et al.
Neuromuscular Disorders : NMD|January 25, 2014
Approach to the diagnosis of congenital myopathiesKathryn N North, Ching H Wang, Nigel Clarke, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Orphanet Journal of Rare Diseases|August 8, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathiesKimberly Amburgey, Angela Bailey, Jean H Hwang, et al.
Neuromuscular Disorders : NMD|December 7, 2023
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational researchJoanne Bullivant, Anando Sen, Jess Page, et al.
Neurology|January 5, 2021
A Cross-Sectional Study of Nemaline MyopathyKimberly Amburgey, Meryl Acker, Samia Saeed, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
Journal of Child Neurology|March 21, 2012
Consensus statement on standard of care for congenital myopathiesChing H Wang, James J Dowling, Kathryn North, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.
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