Noninvasive fetal genome sequencing: a primer

scientific article published on April 2013

Noninvasive fetal genome sequencing: a primer is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/PD.4097
P932PMC publication ID3727971
P698PubMed publication ID23553552
P5875ResearchGate publication ID236104476

P50authorJay ShendureQ15989781
Donna A. SantillanQ38319233
Mark K SantillanQ58002761
P2093author name stringHilary S Gammill
Jacob O Kitzman
LaVone E Simmons
Matthew W Snyder
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Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992Q28250247
Chromosomal mosaicism confined to the placenta in human conceptionsQ28275224
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersQ28279421
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study.Q30704921
Haplotype-resolved genome sequencing of a Gujarati Indian individual.Q33775428
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Loss of mismatched HLA in leukemia after stem-cell transplantation.Q34018719
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10Q34134419
Non-invasive prenatal measurement of the fetal genomeQ34286073
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.Q34287418
Completely phased genome sequencing through chromosome sortingQ34472137
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Karyotype versus microarray testing for genetic abnormalities after stillbirthQ34966044
Trophoblastic oxidative stress and the release of cell-free feto-placental DNA.Q35221979
Digital PCR for the molecular detection of fetal chromosomal aneuploidyQ35916813
Noninvasive whole-genome sequencing of a human fetus.Q36048523
The otherness of self: microchimerism in health and diseaseQ36450729
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringementsQ36488731
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Carrier testing for severe childhood recessive diseases by next-generation sequencingQ37086582
The expanding scope of DNA sequencingQ38058682
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosisQ39586170
Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencingQ47427812
FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasmaQ47960026
Multiplexed analysis of circulating cell-free fetal nucleic acids for noninvasive prenatal diagnostic RHD testing.Q53288194
Fetal lymphocytes in the maternal blood.Q53873799
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.Q54279468
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the FetusQ56937251
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Non-invasive fetal genome sequencing: opportunities and challengesQ57201829
Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicismQ58028950
An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalitiesQ72729435
Fetal karyotyping by chorionic villus sampling after the first trimesterQ73078539
Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasmaQ77372981
ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidyQ80138010
Reevaluating confined placental mosaicismQ80969761
Noninvasive prenatal diagnosis using fetal cells in maternal bloodQ83530320
Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidyQ85495453
P433issue6
P921main subjectwhole genome sequencingQ2068526
P304page(s)547-554
P577publication date2013-04-01
P1433published inPrenatal DiagnosisQ15760059
P1476titleNoninvasive fetal genome sequencing: a primer
P478volume33

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cites work (P2860)
Q55173016"This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening.
Q64077212Bayesian-based noninvasive prenatal diagnosis of single-gene disorders
Q38509263Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?
Q46914667Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women?
Q35089024DFLAT: functional annotation for human development
Q35691099Defining "mutation" and "polymorphism" in the era of personal genomics
Q57839567Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
Q39181228Future of whole genome sequencing.
Q33833207Genetic determinants of fetal opiate exposure and risk of neonatal abstinence syndrome: Knowledge deficits and prospects for future research
Q36787475Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?
Q38559682Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?
Q48240788Noninvasive prenatal testing: the paradigm is shifting rapidly

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