Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. (scientific article published on 3 August 2015)

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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Clinical exome sequencing for genetic identification of rare Mendelian disorders

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American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

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Molecular findings among patients referred for clinical whole-exome sequencing

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

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Whole-genome sequencing for optimized patient management

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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

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Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

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Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

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The usefulness of whole-exome sequencing in routine clinical practice.

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Novel NFKB2 mutation in early-onset CVID.

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Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.

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A de novo paradigm for mental retardation.

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Diagnostic exome sequencing in persons with severe intellectual disability

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Connexin 26 Gene Mutations in Congenitally Deaf Children

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STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

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page(s)

P577

publication date

2015-08-03

P1433

published in

Frontiers in pediatrics

Q27725038

P1476

title

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience

P478

volume

Reverse relations

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