(Q34029550)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Margaret A Keller

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Michael R D'Andrea

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Kathleen Delgrosso

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Adam Ertel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Saul Surrey

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Paolo Fortina

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

English

0 references

publication date

26 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

464

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Exome sequencing reveals VCP mutations as a cause of familial ALS

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Population Differences in the Rate of Proliferation of International HapMap Cell Lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

A map of human genome variation from population-scale sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Microindel detection in short-read sequence data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Genome-wide association study reveals genetic risk underlying Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Genomewide association study for onset age in Parkinson disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Fidelity of SNP array genotyping using Epstein Barr virus-transformed B-lymphocyte cell lines: implications for genome-wide association studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Next-generation DNA sequencing of paired-end tags (PET) for transcriptome and genome analyses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Utility of lymphoblastoid cell lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

EBV Immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Copy number increase of 1p36.33 and mitochondrial genome amplification in Epstein-Barr virus-transformed lymphoblastoid cell lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Steps involved in immortalization and tumorigenesis in human B-lymphoblastoid cell lines transformed by Epstein-Barr virus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

Proteome analysis of Epstein-Barr virus-transformed B-lymphoblasts and the proteome database

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

A de novo paradigm for mental retardation.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2164-12-464

A general approach to single-nucleotide polymorphism discovery.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2164-12-464

Estimation of the Rate of SNP Genotyping Errors From DNA Extracted From Different Tissues

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203102

29 October 2018

Identifiers

DOI

10.1186/1471-2164-12-464

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21943378%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

21943378

1 reference