Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications (Q36269719)

13 August 2017

Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications (English)

1 reference

13 August 2017

Elena Kypri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Charalambos Loizides

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Marios Ioannides

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Achilleas Achilleos

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Petros Mina

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Anna Keravnou

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Carolina Sismani

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

George Koumbaris

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Philippos C Patsalis

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

3 February 2017

1 reference

13 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

e0171319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

11 June 2020

copyright license

start time

3 February 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

30 September 2017

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Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA

30 September 2017

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Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology.

30 September 2017

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Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome

30 September 2017

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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

30 September 2017

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Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis

30 September 2017

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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

30 September 2017

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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

30 September 2017

1 reference

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Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

30 September 2017

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30 September 2017

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The genetics of microdeletion and microduplication syndromes: an update.

30 September 2017

1 reference

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Hybridization capture reveals evolution and conservation across the entire Koala retrovirus genome

30 September 2017

1 reference

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The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

30 September 2017

1 reference

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Effects of GC bias in next-generation-sequencing data on de novo genome assembly

30 September 2017

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Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma

30 September 2017

1 reference

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Chromosomal microarray versus karyotyping for prenatal diagnosis

30 September 2017

1 reference

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Geneious Basic: an integrated and extendable desktop software platform for the organization and analysis of sequence data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Noninvasive prenatal diagnosis of a fetal microdeletion syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.

30 September 2017

1 reference

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Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.

30 September 2017

1 reference

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Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

30 September 2017

1 reference

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Screening for fetal aneuploidies at 11 to 13 weeks

30 September 2017

1 reference

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Multiplexed DNA sequence capture of mitochondrial genomes using PCR products

30 September 2017

1 reference

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Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches

30 September 2017

1 reference

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

30 September 2017

1 reference

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Illumina sequencing library preparation for highly multiplexed target capture and sequencing

30 September 2017

1 reference

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The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

30 September 2017

1 reference

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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

30 September 2017

1 reference

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Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

30 September 2017

1 reference

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Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma

30 September 2017

1 reference

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Digital PCR for the molecular detection of fetal chromosomal aneuploidy

30 September 2017

1 reference

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Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

30 September 2017

1 reference

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Role of TBX1 in human del22q11.2 syndrome

30 September 2017

1 reference

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Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Optimized Real-Time Quantitative PCR Measurement of Male Fetal DNA in Maternal Plasma

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0171319

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291539

Committee Opinion Summary No. 640: Cell-Free DNA Screening For Fetal Aneuploidy

5 December 2018

1 reference

12 December 2020

Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies

1 reference

12 December 2020

Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening

1 reference

12 December 2020

Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0171319

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28158220%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

28158220

1 reference