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

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

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

http://www.wikidata.org/entity/Q35910407

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Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis.Cancer diagnostics: The journey from histomorphology to molecular profiling.Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Ciliopathies: Genetics in Pediatric Medicine.A Clinician's perspective on clinical exome sequencing.The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Against all odds: blended phenotypes of three single-gene defects.Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition.Genomic medicine for kidney disease.A post hoc study on gene panel analysis for the diagnosis of dystonia.Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.Whole Exome Sequencing: Applications in Prenatal Genetics.The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.Genetic Testing in a Cohort of Complex Esophageal Atresia.Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Pediatric Whole Exome Sequencing: an Assessment of Parents' Perceived and Actual Understanding.Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.Methodological Issues in Assessing the Economic Value of Next-Generation Sequencing Tests: Many Challenges and Not Enough Solutions Detecting Copy Number Variation via Next Generation Technology Economic evaluation of genomic sequencing in the paediatric population: a critical review Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease Genetics of autosomal recessive intellectual disability

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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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Amber Hogart Begtrup

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Ammar Husami

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C Alexander Valencia

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Chao Wei

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Derek Neilson

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Elizabeth Schorry

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Fanggeng Zou

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Haiying Meng

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Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

Human genome sequencing in health and disease

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Exome sequencing reveals VCP mutations as a cause of familial ALS

Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations

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

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