Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Jennifer Kerkhof, Cassandra Rastin, Michael A. Levy, Raissa Relator, Haley McConkey, Leigh Demain, Elena Domínguez‐Garrido, Laura Donker Kaat, Sofia Douzgou, Barbara R. DuPont,

Genetics in Medicine · 2024 · 55 citations · 25 references

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