Clinical whole-exome sequencing results impact medical management

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Clinical whole-exome sequencing results impact medical management is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/MGG3.484
P932PMC publication ID6305629
P698PubMed publication ID30318729

P50authorKelly D Farwell HagmanQ56484385
Zoe PowisQ57059650
Layla ShahmirzadiQ85891866
Nancy NiguidulaQ92270913
Christina AlamilloQ92270916
Julie S CohenQ92270921
P2093author name stringZöe Powis
Kelly D Farwell Hagman
Julie S Cohen
Christina Alamillo
Layla Shahmirzadi Mowlavi
Nancy Niguidula
P2860cites workMaking a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseQ28301461
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingQ29616235
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weaknessQ30572046
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.Q33600262
Clinical whole-exome sequencing for the diagnosis of mendelian disordersQ34413680
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and GenomicsQ34544874
Clinical exome sequencing for genetic identification of rare Mendelian disordersQ34782655
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disordersQ34866575
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxiaQ35073865
Molecular findings among patients referred for clinical whole-exome sequencingQ35078373
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.Q35910407
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in YouthQ36592140
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.Q36924136
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careQ37316405
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterationsQ37529593
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Q37637598
GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegiaQ37723860
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.Q38263926
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyQ38883296
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.Q38912161
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.Q38997779
Clinical application of whole-exome sequencing across clinical indicationsQ41075733
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disordersQ41927928
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.Q47681796
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experienceQ47725541
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.Q50260153
Clinical whole exome sequencing in child neurology practice.Q50305196
The usefulness of whole-exome sequencing in routine clinical practice.Q50657606
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous DiseasesQ57536768
P433issue6
P407language of work or nameEnglishQ1860
P304page(s)1068-1078
P577publication date2018-10-14
P1433published inMolecular genetics & genomic medicineQ27724709
P1476titleClinical whole-exome sequencing results impact medical management
P478volume6

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cites work (P2860)
Q90438987A pediatric perspective on genomics and prevention in the twenty-first century
Q99609303A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Q90003673Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)
Q91671031miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

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