Associated Papers
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Theunissen TEJ et al.
The Journal of Pediatrics, 2017
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