Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

scientific article published on 07 December 2016

Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/SREP37153
P932PMC publication ID5141438
P698PubMed publication ID27924908

P50authorByung Yoon ChoiQ61114020
P2093author name stringMin Young Kim
Soyeon Ahn
Soyoung Kim
Jae Joon Han
Ah Reum Kim
Changsoo Kang
Mun Young Chang
Jinsun Yoon
P2860cites workDetection of fetal RHD-specific sequences in maternal plasmaQ77429872
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platformQ85037668
DNA Sequencing versus Standard Prenatal Aneuploidy ScreeningQ22250872
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
Quantitative and sensitive detection of rare mutations using droplet-based microfluidicsQ28238121
Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal PlasmaQ28314918
A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound HeterozygosityQ28550894
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasmaQ33682367
Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal allelesQ33747312
New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.Q33755108
Absolute quantification by droplet digital PCR versus analog real-time PCR.Q33988019
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Randomised controlled trial of genetic amniocentesis in 4606 low-risk womenQ34385464
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafnessQ35168913
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysisQ35552815
Digital PCR for the molecular detection of fetal chromosomal aneuploidyQ35916813
Outcome of 1,355 consecutive transabdominal chorionic villus samplings in 1,351 patientsQ36325152
Prenatal diagnosis: progress through plasma nucleic acidsQ36673937
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasmaQ37000915
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Noninvasive prenatal testing: the future is now.Q38182095
Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetusQ39020995
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.Q39967854
Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemiaQ40028010
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.Q40057027
Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients.Q40130589
Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasmaQ43257809
Preconditions of language development in deaf childrenQ44340497
Cell-free DNA analysis for noninvasive examination of trisomyQ46784231
Detection of aneuploidy with digital polymerase chain reactionQ48567144
Risk factors for procedure-related fetal losses after mid-trimester genetic amniocentesis.Q51795917
Presence of fetal DNA in maternal plasma and serumQ57075132
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectautosomal recessive diseaseQ10267817
P304page(s)37153
P577publication date2016-12-07
P1433published inScientific ReportsQ2261792
P1476titleDevelopment of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR
P478volume6