(Q35992497)

11 August 2017

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA. (English)

1 reference

11 August 2017

whole genome sequencing

1 reference

13

Merete Nordentoft

1 reference

11 August 2017

Marie Bækvad-Hansen

4

0 references

Jonas Bybjerg-Grauholm

Jonas Bybjerg-Grauholm

19

0 references

Jakob Grove

Jakob Grove

3

0 references

Preben Bo Mortensen

Preben Bo Mortensen

15

0 references

Mads Vilhelm Hollegaard

20

Mads Vilhelm Hollegaard

1 reference

11 August 2017

17

Mark Daly

1 reference

11 August 2017

Jesper Buchhave Poulsen

1

Jesper Buchhave Poulsen

1 reference

11 August 2017

7

Julian Maller

1 reference

11 August 2017

8

Christine Stevens

1 reference

11 August 2017

18

David Michael Hougaard

1 reference

11 August 2017

Anders Dupont Børglum

16

Anders Dupont Børglum

1 reference

11 August 2017

Christian Munch Hagen

6

Christian Munch Hagen

1 reference

11 August 2017

5

Michael Christiansen

1 reference

11 August 2017

2

Francesco Lescai

1 reference

11 August 2017

Shenting Li

9

1 reference

11 August 2017

Qibin Li

10

1 reference

11 August 2017

Jihua Sun

11

1 reference

11 August 2017

Jun Wang

12

1 reference

11 August 2017

Thomas Mears Werge

14

1 reference

11 August 2017

language of work or name

English

0 references

publication date

18 April 2016

1 reference

11 August 2017

1 reference

11 August 2017

11

1 reference

11 August 2017

4

1 reference

11 August 2017

e0153253

1 reference

Creative Commons Attribution 4.0 International

11 August 2017

start time

18 April 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Rare-variant association analysis: study designs and statistical tests

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Common variant at 16p11.2 conferring risk of psychosis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Ethical issues with newborn screening in the genomics era

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

A systematic survey of loss-of-function variants in human protein-coding genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

A comparative analysis of exome capture

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Comprehensive comparison of three commercial human whole-exome capture platforms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Performance comparison of exome DNA sequencing technologies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Whole exome capture in solution with 3 Gbp of data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Targeted capture and massively parallel sequencing of 12 human exomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Whole genome microarray analysis, from neonatal blood cards

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Genome-wide scans using archived neonatal dried blood spot samples.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Common variants conferring risk of schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

What would you do if you could sequence everything?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Storage and use of residual dried blood spots from state newborn screening programs

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Newborn screening in Japan.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Epidemiology. When an entire country is a cohort

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Biological specimen banks in neonatal screening

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Joint analysis of SNPs and proteins identifies regulatory IL18 gene variations decreasing the chance of spastic cerebral palsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Newborn screening in North America.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Storage policies and use of the Danish Newborn Screening Biobank.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Phenylketonuria screening registry as a resource for population genetic studies

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Newborn screening in Australia and New Zealand.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835089

Analysis of multiple single nucleotide polymorphisms (SNP) on DNA traces from plasma and dried blood samples

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27089011

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Whole Genome Amplification and Genetic Analysis after Extraction of Proteins from Dried Blood Spots

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27089011

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27089011

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0153253

1 reference

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

27089011

1 reference