Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

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Life Sciences, Genetics, Molecular Genetics +16

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

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Life Sciences, Bioinformatics, Genetics +15

Clinical application of whole-exome sequencing across clinical indications

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Life Sciences, Genetics, Molecular Medicine +14

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

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Life Sciences, Genetics, Molecular Genetics +17

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney et al. · npj Genomic Medicine · 2018 · 455 citations · Full text

Life Sciences, Genetics, Pediatrics +14