Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders (Q38562142)

4 September 2017

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title

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders (English)

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4 September 2017

main subject

whole genome sequencing

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H Stranneheim

1

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4 September 2017

A Wedell

series ordinal

2

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4 September 2017

language of work or name

English

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publication date

7 August 2015

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Journal of Internal Medicine

4 September 2017

published in

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4 September 2017

volume

279

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4 September 2017

issue

1

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4 September 2017

page(s)

3-15

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Sickle cell anemia, a molecular disease

4 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Structural evidence for the authenticity of the human retinoblastoma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

A polymorphic DNA marker genetically linked to Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Technology: The $1,000 genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Target-enrichment strategies for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Novel (ovario) leukodystrophy related to AARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

An integrated encyclopedia of DNA elements in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Resolving the complexity of the human genome using single-molecule sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Comprehensive variation discovery in single human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

ACMG clinical laboratory standards for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

The transcriptional landscape of the mammalian genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12399

21 January 2018

Identifiers

DOI

10.1111/JOIM.12399

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4 September 2017

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