scholarly article | Q13442814 |
P50 | author | Kelly D Farwell Hagman | Q56484385 |
Zoe Powis | Q57059650 | ||
Layla Shahmirzadi | Q85891866 | ||
Nancy Niguidula | Q92270913 | ||
Christina Alamillo | Q92270916 | ||
Julie S Cohen | Q92270921 | ||
P2093 | author name string | Zöe Powis | |
Kelly D Farwell Hagman | |||
Julie S Cohen | |||
Christina Alamillo | |||
Layla Shahmirzadi Mowlavi | |||
Nancy Niguidula | |||
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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness | Q30572046 | ||
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 disorders | Q34413680 | ||
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Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders | Q34866575 | ||
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia | Q35073865 | ||
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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 Youth | Q36592140 | ||
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 care | Q37316405 | ||
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations | Q37529593 | ||
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 paraplegia | Q37723860 | ||
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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. | Q38997779 | ||
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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 experience | Q47725541 | ||
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P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 1068-1078 | |
P577 | publication date | 2018-10-14 | |
P1433 | published in | Molecular genetics & genomic medicine | Q27724709 |
P1476 | title | Clinical whole-exome sequencing results impact medical management | |
P478 | volume | 6 |
Q90438987 | A pediatric perspective on genomics and prevention in the twenty-first century |
Q99609303 | A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis |
Q90003673 | Perspectives 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) |
Q91671031 | miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes |
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