Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations
C Ching et al, Genetics in Medicine, May 13, 2023
Rare-disease researchers pioneer a unique approach to clinical trials.
Mike May et al. Nat Med 2023 5
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Caroline F Wright et al. N Engl J Med 2023 4
Why genetic testing should always be offered to children with neurodevelopmental differences
D Ondrasick, Stat News, April 10., 2023
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