Damage associated with both IgG4-related disease itself and the diagnostic or therapeutic procedures used to manage it is highly prevalent, affecting most patients, particularly in organs like the pancreas, kidneys, and salivary glands,...

Integrating rapid genome sequencing and the BeginNGS platform into newborn screening shows potential for early detection of severe genetic disorders, but there remains a significant challenge in ensuring that parents fully understand the...

While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown...