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

[1]  Clara Gaff,et al.  Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions , 2017, JAMA pediatrics.

[2]  Roland Eils,et al.  Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. , 2017, Molecular genetics and metabolism.

[3]  Daniele Merico,et al.  A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder , 2017, Genetics in Medicine.

[4]  Gert Jan van der Wilt,et al.  A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology , 2017, Genetics in Medicine.

[5]  Stephen Yip,et al.  The cost and cost trajectory of whole‐genome analysis guiding treatment of patients with advanced cancers , 2017, Molecular genetics & genomic medicine.

[6]  Dustin Baldridge,et al.  The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results , 2017, Genetics in Medicine.

[7]  Clara Gaff,et al.  Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement , 2017, Genetics in Medicine.

[8]  Alex Henderson,et al.  De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. , 2017, American journal of human genetics.

[9]  Rolf Schröder,et al.  Clinical exome sequencing: results from 2819 samples reflecting 1000 families , 2016, European Journal of Human Genetics.

[10]  Gert Jan van der Wilt,et al.  Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing. , 2016, Clinical chemistry.

[11]  Andrea Superti-Furga,et al.  Exome Sequencing and the Management of Neurometabolic Disorders. , 2016, The New England journal of medicine.

[12]  Shivang Doshi,et al.  Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis , 2016, The Journal of molecular diagnostics : JMD.

[13]  Michael J Ackerman,et al.  Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. , 2016, Mayo Clinic proceedings.

[14]  Martha Carlson,et al.  Whole Exome Sequencing in Pediatric Neurology Patients , 2016, Journal of Child Neurology.

[15]  Anke M Hövels,et al.  Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability , 2016, Genetics in Medicine.

[16]  D. Goldstein,et al.  Practical considerations in the clinical application of whole‐exome sequencing , 2016, Clinical genetics.

[17]  Doug Coyle,et al.  Richard Edlin, Christopher McCabe, Claire Hulme, Peter Hall, Judy Wright: Cost Effectiveness Modelling for Health Technology Assessment: A Practical Course , 2016, PharmacoEconomics.

[18]  W. Chung,et al.  Clinical application of whole-exome sequencing across clinical indications , 2015, Genetics in Medicine.

[19]  L. Vissers,et al.  Genetic studies in intellectual disability and related disorders , 2015, Nature Reviews Genetics.

[20]  B. Fernandez,et al.  Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care , 2015, Clinical genetics.

[21]  Daniele Merico,et al.  Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. , 2015, JAMA.

[22]  F. Zou,et al.  Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience , 2015, Front. Pediatr..

[23]  Bale,et al.  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, Genetics in Medicine.

[24]  Xuan Yuan,et al.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders , 2014, Science Translational Medicine.

[25]  Xiang Li,et al.  Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions , 2014, Genetics in Medicine.

[26]  Eric Vilain,et al.  Clinical exome sequencing for genetic identification of rare Mendelian disorders. , 2014, JAMA.

[27]  Magalie S Leduc,et al.  Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.

[28]  Siddharth Srivastava,et al.  Clinical whole exome sequencing in child neurology practice , 2014, Annals of neurology.

[29]  Véronique Geoffroy,et al.  Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing , 2014, Journal of Medical Genetics.

[30]  Julia Wynn,et al.  The usefulness of whole-exome sequencing in routine clinical practice , 2014, Genetics in Medicine.

[31]  M. Choti,et al.  Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies , 2014, Science Translational Medicine.

[32]  Christian Gilissen,et al.  A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases , 2013, Human mutation.

[33]  Magalie S Leduc,et al.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.

[34]  Dean A Regier,et al.  Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. , 2010, American journal of human genetics.

[35]  Christopher McCabe,et al.  Cost Effectiveness Modelling for Health Technology Assessment , 2015 .