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

The diagnostic pathway in complex paediatric neurology: A cost analysis

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

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Clinical whole exome sequencing in child neurology practice

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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

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The usefulness of whole-exome sequencing in routine clinical practice

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

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Clinical whole-exome sequencing: are we there yet?

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

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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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Large-scale discovery of novel genetic causes of developmental disorders

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A general framework for estimating the relative pathogenicity of human genetic variants

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

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De Novo Mutations in Moderate or Severe Intellectual Disability

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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

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The economic value of personalized medicine tests: what we know and what we need to know

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The genetic basis of DOORS syndrome: an exome-sequencing study

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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

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UPDATE OF THE DUTCH MANUAL FOR COSTING IN ECONOMIC EVALUATIONS

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Clinical application of exome sequencing in undiagnosed genetic conditions

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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Exome Sequencing Can Improve Diagnosis and Alter Patient Management

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A method and server for predicting damaging missense mutations

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

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Exome sequencing identifies the cause of a mendelian disorder

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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Yield of additional metabolic studies in neurodevelopmental disorders

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