Standardized variant curation is essential for clinical care recommendations for patients with
inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are …

Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet aggregation
caused by quantitative or qualitative defects in integrins αIIb and β3. These integrins are …

There are numerous on-line communities in which people converse about various topics and
issues. It is usually necessary to monitor on-line forums to ensure that conversations and …

Study Design. Retrospective cohort. Objective. To investigate and establish minimum clinically
important differences (MCID) for Patient Health Questionnaire-9 (PHQ-9) among patients …

Study Design. Retrospective cohort. Objective. We evaluate the correlation of the Patient-Reported
Outcomes Measurement Information System for physical function (PROMIS-PF) with …

Background Tubal ectopic pregnancies can cause substantial morbidity or even death. Current
treatment is with methotrexate or surgery. Methotrexate treatment fails in approximately …

Accurate and consistent sequence variant interpretation is critical to the correct diagnosis
and appropriate clinical management and counseling of patients with inherited genetic …

Purpose As more patients undergo lumbar spine surgery, novel interventions may improve
physical and mental health outcomes. Few studies summarize the benefit of cognitive …

Metal carbonyls have been developed as carbon monoxide-releasing molecules (CO-RMs)
to deliver CO for therapeutic purposes. The manganese-based CORM-401 has been …

The broad use of next-generation sequencing and microarray platforms in research and
clinical laboratories has led to an increasing appreciation of the role of germline mutations in …