Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

(2018) Nick Dragojlovic et al.   GENETICS IN MEDICINE

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

(2017) Robin Z. Hayeems et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

(2017) Sophie Nambot 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

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

(2017) Dustin Baldridge et al.   GENETICS IN MEDICINE

Rapid Targeted Genomics in Critically Ill Newborns

(2017) Cleo C. van Diemen et al.   PEDIATRICS

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

(2017) Tiong Yang Tan et al.   JAMA Pediatrics

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

(2017) Maie Walsh et al.   Annals of Clinical and Translational Neurology

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

(2017) Deborah Schofield et al.   npj Genomic Medicine

The 100 000 Genomes Project: What it means for paediatrics

(2016) Blanche H Griffin et al.   Archives of Disease in Childhood-Education and Practice Edition

Recommendations for the integration of genomics into clinical practice

(2016) Sarah Bowdin et al.   GENETICS IN MEDICINE

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

(2016) Aaron M. Wenger 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

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

(2013) Seema M. Jamal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Minimising twins in in vitro fertilisation: a modelling study assessing the costs, consequences and cost-utility of elective single versus double embryo transfer over a 20-year time horizon

(2011) GS Scotland et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis

(2010) Gerry Evers-Kiebooms et al.   CLINICAL GENETICS

Improving Decision Analyses: Parent Preferences (Utility Values) for Pediatric Health Outcomes

(2009) Aaron E. Carroll et al.   JOURNAL OF PEDIATRICS