Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature (scientific article published on 14 May 2018)

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

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A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

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Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing

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A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

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AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

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Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing

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De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

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A case of splenomegaly in CBL syndrome

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Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?

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Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy: A case report with RAF1 770C>T mutant

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Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy

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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

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Genomic diagnosis for children with intellectual disability and/or developmental delay

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Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

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Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

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TUBB4A de novo mutations cause isolated hypomyelination

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Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

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Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

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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

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Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

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Clinical exome sequencing for genetic identification of rare Mendelian disorders

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Genetic test evaluation: information needs of clinicians, policy makers, and the public

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

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Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

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Molecular findings among patients referred for clinical whole-exome sequencing

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Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation

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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

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Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing

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Whole exome sequencing of suspected mitochondrial patients in clinical practice.

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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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Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

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

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Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation

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Economic analyses of human genetics services: a systematic review

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Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

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The use of whole-exome sequencing to disentangle complex phenotypes

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A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes

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Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

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Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

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A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

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The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?

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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

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Exome Sequencing and the Management of Neurometabolic Disorders.

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Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing

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A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

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

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Implementing genomic medicine in the clinic: the future is here

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Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

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Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

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Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

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Issues surrounding the health economic evaluation of genomic technologies

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An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach

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Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

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An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

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Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

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Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

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Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

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Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

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Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

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HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

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An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

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WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

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A further family of Stromme syndrome carrying CENPF mutation

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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

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Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

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GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

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Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value

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Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders

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Right test, right time, right patient

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CLTC as a clinically novel gene associated with multiple malformations and developmental delay

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Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

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Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

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Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

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Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins

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Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

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Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).

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Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation

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Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.

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Practical considerations in the clinical application of whole-exome sequencing

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Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

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Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

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The first report of Japanese patients with asparagine synthetase deficiency.

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Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

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Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

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High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

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Convergence of Implementation Science, Precision Medicine, and the Learning Health Care System: A New Model for Biomedical Research

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A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism

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Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

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Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

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Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report

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H syndrome: 5 new cases from the United States with novel features and responses to therapy

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Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation

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Severe combined immunodeficiency resulting from mutations in MTHFD1.

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Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

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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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A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

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Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

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Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

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An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study

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Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy

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

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Yunis-Varón syndrome caused by biallelic VAC14 mutations

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Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.

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Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

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Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

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A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

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Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.

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TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

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Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

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Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

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Neonatal encephalocardiomyopathy caused by mutations in VARS2.

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Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

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Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

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Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing

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Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita

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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

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Clinical whole exome sequencing in child neurology practice.

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Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.

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A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

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MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.

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Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.

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

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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

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Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.

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Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

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Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

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Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome.

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Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

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

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Outcomes of interest in evidence-based evaluations of genetic tests

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Consolidated Health Economic Evaluation Reporting Standards (CHEERS)--explanation and elaboration: a report of the ISPOR Health Economic Evaluation Publication Guidelines Good Reporting Practices Task Force.

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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

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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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Novel SMC1A frameshift mutations in children with developmental delay and epilepsy

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

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

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Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child

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Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis

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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

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The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

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Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

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

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Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

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Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

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Rayyan-a web and mobile app for systematic reviews.

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Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

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Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

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Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

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Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

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Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

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Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency

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ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

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Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature

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Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency

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Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing

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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

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Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

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Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

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Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

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P433

issue

P921

main subject

scoping review

Q101116078

P304

page(s)

3-16

P577

publication date

2018-05-14

P1433

published in

Genetics in Medicine

Q15765508

P1476

title

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

P478

volume

Reverse relations

cites work (P2860)

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P356	DOI	10.1038/S41436-018-0024-6
P698	PubMed publication ID	29760485