Abstract Although each Mendelian Disorder of the Epigenetic Machinery (MDEM) has a
different causative gene, there are shared disease manifestations. We hypothesize that this …

A growing number of genetic neurodevelopmental disorders are known to be associated
with unique genomic DNA methylation patterns, called episignatures, which are detectable …

Many Mendelian developmental disorders caused by coding variants in epigenetic
regulators have now been discovered. Epigenetic regulators are broadly expressed, and …

Purpose This study aims to assess the diagnostic utility and provide reporting
recommendations for clinical DNA methylation episignature testing based on the cohort of …

DNA methylation (DNAm) signatures are unique patterns of DNAm alterations defined for
rare disorders caused by pathogenic variants in epigenetic regulatory genes. The potential …

Over the past 2 decades, advances in genetic testing methods and the growing availability
of such tests to the general population has been met with a shift in how physicians provide …

With approximately 38 million people living with HIV/AIDS globally, and a further 1.5 million
new global infections per year, it is imperative that we advance our understanding of all …

Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of
severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects …

Synpolydactyly 1, also called syndactyly type II (SDTY2), is a genetic limb malformation
characterized by polydactyly with syndactyly involving the webbing of the third and fourth …

Triclocarban is a highly effective and broadly used antimicrobial agent. Humans are
continually exposed to triclocarban, but the safety of prenatal exposure to triclocarban in the …