Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

(2017) Zornitza Stark et al.   GENETICS IN MEDICINE

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

(2016) Glen R. Monroe et al.   GENETICS IN MEDICINE

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice

(2015) M.T. Nguyen et al.   CLINICAL GENETICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE