A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
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Achieving high-sensitivity for clinical applications using augmented exome sequencingNovel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsNovel bioinformatic developments for exome sequencingClinical application of next-generation sequencing for Mendelian diseasesMutations in the Human AAA+ Chaperone p97 and Related DiseasesIdentification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderDe novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyEfficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis PigmentosaBiallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberGrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?Diagnostic exome sequencing in 266 Dutch patients with visual impairment.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceWhole exome sequencing of suspected mitochondrial patients in clinical practice.Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.Somatic microsatellite variability as a predictive marker for colorectal cancer and liver cancer progression.New insights into the performance of human whole-exome capture platforms.Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer SusceptibilityPhenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaThe Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical CentersClinical exome sequencing in neurologic disease.Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.Precision medicine: an opportunity for a paradigm shift in veterinary medicine.Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Clinical exome sequencing in daily practice: 1,000 patients and beyondGenetics of hereditary nephrotic syndrome: a clinical review.Next-generation sequencing for research and diagnostics in kidney disease.
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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
description
im Oktober 2013 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 18 October 2013
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2013
@uk
name
A Post-Hoc Comparison of the U ...... osis of Heterogeneous Diseases
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A Post-Hoc Comparison of the U ...... osis of Heterogeneous Diseases
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type
label
A Post-Hoc Comparison of the U ...... osis of Heterogeneous Diseases
@en
A Post-Hoc Comparison of the U ...... osis of Heterogeneous Diseases
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prefLabel
A Post-Hoc Comparison of the U ...... osis of Heterogeneous Diseases
@en
A Post-Hoc Comparison of the U ...... osis of Heterogeneous Diseases
@nl
P2093
P2860
P50
P356
P1433
P1476
A post-hoc comparison of the u ...... osis of heterogeneous diseases
@en
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Bart P C van de Warrenburg
Bert van den Heuvel
Carlo L M Marcelis
Danielle Bodmer
David A Koolen
Dorien Lugtenberg
Erik-Jan Kamsteeg
Frans P M Cremers
Han G Brunner
Hannie Kremer
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P304
P356
10.1002/HUMU.22450
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P577
2013-10-18T00:00:00Z