Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies (Q38243005)

31 August 2017

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

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31 August 2017

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1

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31 August 2017

2

Alain Fischer

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language of work or name

English

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publication date

12 September 2014

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European Journal of Immunology

31 August 2017

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31 August 2017

44

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31 August 2017

10

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31 August 2017

2854-2861

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Nucleotide sequence of bacteriophage φX174 DNA

31 August 2017

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https://api.crossref.org/works/10.1002%2FEJI.201444669

Fluorescence detection in automated DNA sequence analysis.

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Mutation analysis in primary immunodeficiency diseases: case studies

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders.

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

DNA linkage analysis of X chromosome-linked chronic granulomatous disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

MHC class II deficiency: a disease of gene regulation

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

The V(D)J recombination activating gene, RAG-1.

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

The RAG1 and RAG2 proteins establish the 12/23 rule in V(D)J recombination

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

Expression and V(D)J recombination activity of mutated RAG-1 proteins

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

RAG mutations in human B cell-negative SCID.

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

A pilot study using next-generation sequencing in advanced cancers: feasibility and challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

21 January 2018

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https://api.crossref.org/works/10.1002%2FEJI.201444669

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

What can exome sequencing do for you?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Next-generation sequencing techniques for eukaryotic microorganisms: sequencing-based solutions to biological problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

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/10.1002%2FEJI.201444669

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22–Xp11.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

inferred from DOI database lookup

7 January 2021

based on heuristic

Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

inferred from DOI database lookup

7 January 2021

based on heuristic

Array-based sequence capture and next-generation sequencing for the identification of primary immunodeficiencies

1 reference

https://api.crossref.org/works/10.1002%2FEJI.201444669

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/EJI.201444669

1 reference

31 August 2017

1 reference

PubMed ID

25154746