(Q34691675)

4 August 2017

Deep sequencing of patient genomes for disease diagnosis: when will it become routine? (English)

1 reference

4 August 2017

1 reference

Stephen F Kingsmore

1

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author name string

Carol J Saunders

series ordinal

2

1 reference

PubMed ID

21677196

4 August 2017

language of work or name

English

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publication date

1 June 2011

1 reference

Science Translational Medicine

4 August 2017

1 reference

4 August 2017

3

1 reference

4 August 2017

87

1 reference

4 August 2017

87ps23

1 reference

Whole-genome sequencing for optimized patient management

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Carrier testing for severe childhood recessive diseases by next-generation sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Whole-exome-sequencing-based discovery of human FADD deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Frequency of genetic diseases and health coverage of children requiring admission in a general pediatric clinic of northern Greece

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Targeted capture and massively parallel sequencing of 12 human exomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

A highly annotated whole-genome sequence of a Korean individual

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

The burden of genetic disease on inpatient care in a children's hospital

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

The effect of Mendelian disease on human health: a measurement.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Intellectual property. Enhanced: intellectual property landscape of the human genome.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3002695

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264992

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21677196

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21677196

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCITRANSLMED.3002695

1 reference

4 August 2017

1 reference

4 August 2017

1 reference

PubMed ID

21677196