Exome sequencing identifies the cause of a mendelian disorder (Q24607742)

11

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Ethylin Wang Jabs

Ethylin Wang Jabs

9

0 references

Deborah A Nickerson

10

Deborah A Nickerson

0 references

Michael J Bamshad

12

Michael J Bamshad

0 references

Abigail W Bigham

4

Abigail W Bigham

0 references

Kati J Buckingham

2

Kati J Buckingham

0 references

Holly K Tabor

5

Holly K Tabor

0 references

Choli Lee

3

Choli Lee

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author name string

Sarah B Ng

1

0 references

Karin M Dent

6

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Chad D Huff

7

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Paul T Shannon

Targeted capture and massively parallel sequencing of 12 human exomes

8

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language of work or name

English

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publication date

January 2010

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published in

Nature Genetics

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volume

42

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issue

1

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page(s)

30-5

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Mapping short DNA sequencing reads and calling variants using mapping quality scores

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Deletion of ultraconserved elements yields viable mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Leflunomide: mode of action in the treatment of rheumatoid arthritis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Next-generation DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Genome-wide in situ exon capture for selective resequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Orotic acid excretion and arginine metabolism

10 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

The strength of selection on ultraconserved elements in the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Postaxial acrofacial dysostosis (Miller) syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Postaxial acrofacial dysostosis: report on two patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Postaxial acrofacial dysostosis syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

The Human Gene Mutation Database: 2008 update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Inhibition of NF-kappaB activity results in disruption of the apical ectodermal ridge and aberrant limb morphogenesis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Analysis of the phenotypes exhibited by rudimentary-like mutants of Drosophila melanogaster

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Functional diversity within the rudimentary locus of Drosophila melanogaster.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Dihydroorotate dehydrogenase polymorphism influences the toxicity of leflunomide treatment in patients with rheumatoid arthritis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

SEX LIMITED INHERITANCE IN DROSOPHILA.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Teratogenicity study of the dihydroorotate-dehydrogenase inhibitor and protein tyrosine kinase inhibitor Leflunomide in mice.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

Leflunomide protects from T-cell-mediated liver injury in mice through inhibition of nuclear factor kappaB.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847889

An extensive form of mandibulo-facial dysostosis

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19915526

12 December 2020

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/19915526

12 December 2020

Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling

1 reference

https://pubmed.ncbi.nlm.nih.gov/19915526

12 December 2020

Robin sequence and oligodactyly in mother and son

1 reference

https://pubmed.ncbi.nlm.nih.gov/19915526

12 December 2020

Adult and two children with fetal methotrexate syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.499

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.499

1 reference

Dimensions Publication ID

1021123766

0 references

1 reference

1 reference

PubMed publication ID

19915526

1 reference