Associated Papers
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.
Babaee M et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
Phadke R et al.
Journal of Inherited Metabolic Disease, 2020
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