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

A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder

(2017) Kate Tsiplova et al.   GENETICS IN MEDICINE

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

(2017) Tiong Yang Tan et al.   JAMA Pediatrics

Early Stage Health Technology Assessment for Precision Biomarkers in Oral Health and Systems Medicine

(2016) Lotte M.G. Steuten   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy

(2016) Athanassios Vozikis et al.   Public Health Genomics

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine

(2015) S.C. Bowdin et al.   CLINICAL GENETICS

The diagnostic pathway in complex paediatric neurology: A cost analysis

(2015) K.J.M. van Nimwegen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

(2015)   GENETICS IN MEDICINE

Costs of the diagnostic odyssey in children with inherited leukodystrophies

(2015) Jackson Richards et al.   NEUROLOGY

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray

(2014) Robin Z Hayeems et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

The impact of chromosomal microarray on clinical management: a retrospective analysis

(2014) Lindsay B. Henderson et al.   GENETICS IN MEDICINE

The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care

(2014) Sarah Bowdin et al.   HUMAN MUTATION

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

(2014) Jason L Vassy et al.   Trials

Growing Up in the Genomic Era: Implications of Whole-Genome Sequencing for Children, Families, and Pediatric Practice

(2013) Christopher H. Wade et al.   Annual Review of Genomics and Human Genetics

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy Debate

(2013) Timothy Caulfield et al.   PLOS BIOLOGY

The Promise and Challenges of Next-Generation Genome Sequencing for Clinical Care

(2013) Katherine A. Johansen Taber et al.   JAMA Internal Medicine

Beyond Diagnostic Accuracy: The Clinical Utility of Diagnostic Tests

(2012) P. M. M. Bossuyt et al.   CLINICAL CHEMISTRY

Patterns and Costs of Health Care Use of Children With Medical Complexity

(2012) E. Cohen et al.   PEDIATRICS

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Chromosomal microarray testing influences medical management

(2011) Michael E. Coulter et al.   GENETICS IN MEDICINE

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML

(2011) Daniel C. Link   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay

(2009) Jennifer Saam et al.   GENETICS IN MEDICINE

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support

(2008) Paul A. Harris et al.   JOURNAL OF BIOMEDICAL INFORMATICS