Whole-exome sequencing of a pedigree segregating asthma (Q30458323)

15 August 2017

Whole-exome sequencing of a pedigree segregating asthma (English)

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15 August 2017

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Andrew T DeWan

1

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author name string

Kathryn Brigham Egan

2

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15 August 2017

Karen Hellenbrand

3

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15 August 2017

Keli Sorrentino

4

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15 August 2017

Nicole Pizzoferrato

5

1 reference

15 August 2017

Kyle M Walsh

6

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15 August 2017

Michael B Bracken

7

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15 August 2017

9 October 2012

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15 August 2017

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15 August 2017

13

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15 August 2017

95

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https://scigraph.springernature.com/pub.10.1186/1471-2350-13-95

15 August 2017

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cites work

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

20 June 2018

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

20 June 2018

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The search for genetic variants and epigenetics related to asthma

20 June 2018

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Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C

20 June 2018

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dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

20 June 2018

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 June 2018

1 reference

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PDE11A associations with asthma: results of a genome-wide association scan

20 June 2018

1 reference

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A large-scale, consortium-based genomewide association study of asthma

20 June 2018

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 June 2018

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Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism.

20 June 2018

1 reference

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Missing heritability and strategies for finding the underlying causes of complex disease

20 June 2018

1 reference

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Genetic heterogeneity in human disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions

20 June 2018

1 reference

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Fast and accurate long-read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

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Variants of DENND1B associated with asthma in children

20 June 2018

1 reference

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Finding the missing heritability of complex diseases

20 June 2018

1 reference

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Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children

20 June 2018

1 reference

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The Sequence Alignment/Map format and SAMtools

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

20 June 2018

1 reference

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Personal genomes: The case of the missing heritability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Common variants in the GDF5-UQCC region are associated with variation in human height

20 June 2018

1 reference

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A common variant of HMGA2 is associated with adult and childhood height in the general population

20 June 2018

1 reference

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Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Association of inducible nitric oxide synthase with asthma severity, total serum immunoglobulin E and blood eosinophil levels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Lack of MEF2A mutations in coronary artery disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Transcription factor MEF2A mutations in patients with coronary artery disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Mutation of MEF2A in an inherited disorder with features of coronary artery disease

20 June 2018

1 reference

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Protein-protein interactions involving inducible nitric oxide synthase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

c-Cbl and Cbl-b regulate T cell responsiveness by promoting ligand-induced TCR down-modulation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563469

Attempted replication of 50 reported asthma risk genes identifies a SNP in RAD50 as associated with childhood atopic asthma

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-95

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-95

Is survival possible without arachidonate metabolites in the brain during systemic infection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-95

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-95

Glucocorticoid-related genetic susceptibility for Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-95

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-95

21 January 2018

Identifiers

DOI

10.1186/1471-2350-13-95

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

23046476

1 reference