文章名稱引用次數(shù)

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• Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework45
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• Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel30
• Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer27
• Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)26
• Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders25
• Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes24
• Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 000 Genomes Project22
• The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 000 Infants22