Clinical exome sequencing for genetic identification of rare Mendelian disorders. - Wikidata - thesis-toulmin - TriplyDB

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

http://www.wikidata.org/entity/Q34782655

about

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development Assessing the Costs and Cost-Effectiveness of Genomic Sequencing Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.Clinical application of next-generation sequencing for Mendelian diseases The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities Advancing the understanding of autism disease mechanisms through genetics Recent advances in prenatal genetic screening and testing Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape Confidentiality & the Risk of Genetic Discrimination: What Surgeons Need to Know Insights from exome sequencing for endocrine disorders Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.Truncating mutations in APP cause a distinct neurological phenotype.Evolving health care through personal genomics.New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene A systematic approach to the reporting of medically relevant findings from whole genome sequencing.Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.Genetic testing in steroid-resistant nephrotic syndrome: when and how?When "N of 2" is not enough: integrating statistical and functional data in gene discovery.Initiating an undiagnosed diseases program in the Western Australian public health system.Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population.Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

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Clinical exome sequencing for genetic identification of rare Mendelian disorders.

http://www.wikidata.org/entity/Q34782655

description

2014 nî lūn-bûn

@nan

2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@ast

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@en

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@nl

type

label

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@ast

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@en

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@nl

prefLabel

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@ast

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@en

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

@nl

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JAMA.2014.14604

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Journal of the American Medical Association

P1476

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

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P2093

Brent L Fogel

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Bret Harry

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Christina G S Palmer

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Eric Vilain

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Fabiola Quintero-Rivera

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Hane Lee

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Joshua L Deignan

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Julian A Martinez-Agosto

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Katrina M Dipple

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Kingshuk Das

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P2860

Guidelines for investigating causality of sequence variants in human disease

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.

Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

P304

1880-1887

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scholarly article

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10.1001/JAMA.2014.14604

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18

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312

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Michael Yourshaw

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2014-11-01T00:00:00Z

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267043289

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25326637

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4278636

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