Further Evidence Supporting the Role of GTDC1 in Glycine Metabolism and Neurodevelopmental Disorders

Medicine, Endocrinology, Neurology, Life Sciences, Genetics,
GTDc1   Glycine Metabolism   Neurodevelopmental Disorders   Genetic Factors   CNVs   Phenotype  

In recent years, research on Neurodevelopmental Disorders (NDDs) has uncovered numerous genetic variants associated with NDDs, ranging from Single Nucleotide Variants (SNVs) to large structural changes (such as chromosomal rearrangements). Against this research background, Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, and other researchers ...

Electronic Health Record Signatures Identify Undiagnosed Patients with Common Variable Immunodeficiency Disease

Electronic Health Record Signatures Identify Undiagnosed Patients with Common Variable Immunodeficiency Disease

Medicine, Rheumatology and Immunology, Environmental and Public Health,
Common Variable Immunodeficiency   Electronic Health Records   Machine Learning Algorithm   Immune System   Disease Diagnosis   Artificial Intelligence   Phenotype  

Utilizing Electronic Health Record Features to Identify Undiagnosed Patients with Common Subtype of Immunodeficiency Recently, Johnson and colleagues published a study titled “Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease” in Science Translational Medicine. This research utilizes ele...