Biallelic variants in RNU2-2 cause the most prevalent known recessive…
Identifying the most common genetic cause of recessive neurodevelopmental disorders could dramatically improve diagnosis for the half of affected families still seeking answers.
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Biallelic variants in RNU2-2 cause a remarkably frequent…
A newly discovered biomarker ratio may help doctors diagnose a severe inherited neurological condition earlier, improving care planning for affected families.
Standard additionSystematic analysis of snRNA genes reveals frequent RNU2-2 variants…
Non-coding gene mutations emerge as an overlooked but frequent cause of severe childhood epilepsy, expanding where researchers should look for genetic diagnoses.
Novel or significantly improved treatmentPatient-reported health-related quality of life in previously…
Real patient experiences show that a newer lymphoma treatment improves quality of life compared to older chemotherapy, helping people make informed choices.
Early cancer detection or preventionMeasuring and defining screening benefit in a new era of cancer early detection.
A proposed framework helps researchers fairly evaluate blood tests that screen for multiple cancers at once, essential as these tests enter clinical use.