(Q37285958)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Clinical application of whole-genome sequencing in patients with primary immunodeficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

main subject

whole genome sequencing

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

Talal Mousallem

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Thomas J Urban

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

K Melodi McSweeney

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sarah E Kleinstein

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Mingfu Zhu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Roberta E Parrott

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Joseph L Roberts

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Brian Krueger

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Rebecca H Buckley

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

David B Goldstein

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

English

0 references

publication date

14 May 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Allergy and Clinical Immunology

8 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

476-9.e6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

Clinical application of exome sequencing in undiagnosed genetic conditions

8 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

RAG mutations in human B cell-negative SCID.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5037571

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25981738

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2015.02.040

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25981738%20AND%20SRC:MED&resulttype=core&format=json