Associated Papers
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Alkhunaizi E et al.
American Journal of Medical Genetics. Part A, 2019
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
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