Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma (Q36595101)

15 August 2017

Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma (English)

1 reference

15 August 2017

2

Diana W Bianchi

1 reference

15 August 2017

Anupama Srinivasan

1

1 reference

15 August 2017

Hui Huang

series ordinal

3

1 reference

15 August 2017

Amy J Sehnert

series ordinal

4

1 reference

15 August 2017

Richard P Rava

series ordinal

5

1 reference

15 August 2017

language of work or name

English

0 references

publication date

10 January 2013

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

92

1 reference

15 August 2017

2

1 reference

15 August 2017

167-176

1 reference

Chromosomal microarray versus karyotyping for prenatal diagnosis

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Non-invasive prenatal measurement of the fetal genome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Noninvasive prenatal diagnosis of a fetal microdeletion syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

The introduction of arrays in prenatal diagnosis: a special challenge.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Detection of aneuploidy with digital polymerase chain reaction.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567270

Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23313373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of mosaic isochromosome 20q in amniotic fluid in a pregnancy with fetal arthrogryposis multiplex congenita and normal karyotype in fetal blood and postnatal samples of placenta, skin, and liver

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23313373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.12.006

1 reference

release_wu7jhefkdbfx7dgnfpjtgaxcy4

15 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wu7jhefkdbfx7dgnfpjtgaxcy4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

15 August 2017

1 reference