Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

scientific article published on 18 August 2017

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2017.07.012
P932PMC publication ID5590845
P698PubMed publication ID28844486

P50authorWouter de LaatQ55283599
Sara PulitQ56356122
Geert GeevenQ57416281
Zahra ShahsavariQ63866602
Theodora KatsilaQ66380659
Jan Traeger-SynodinosQ50271228
George P PatrinosQ52340356
P2093author name stringHossein Najmabadi
Erik Splinter
Jeffrey M Beekman
Elzo de Wit
Fatemeh Zeinali
Hans Kristian Ploos van Amstel
Gerard J Te Meerman
Sima Kheradmand Kia
Ewart de Bruijn
Christina Vrettou
Marjon J A M Verstegen
Melissa van Kranenburg
Evelien Kruisselbrink
Davood Omrani
Carlo Vermeulen
Rumo P M Jansen
P2860cites workMaternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the FetusQ56937251
Presence of fetal DNA in maternal plasma and serumQ57075132
Chorionic villus sampling for early prenatal diagnosis: Experience at a mainland Chinese hospitalQ88044459
Pre-implantation genetic diagnosisQ88782881
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
Digital PCRQ24685020
Liquid biopsies: genotyping circulating tumor DNAQ27010159
Circulating mutant DNA to assess tumor dynamicsQ28289337
A functional CFTR assay using primary cystic fibrosis intestinal organoidsQ28291898
Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal PlasmaQ28314918
A clinical service in the UK to predict fetal Rh (Rhesus) D blood group using free fetal DNA in maternal plasmaQ33361680
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
The origin of the major cystic fibrosis mutation (delta F508) in European populations.Q34059578
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
Whole-genome sequence variation, population structure and demographic history of the Dutch populationQ34426935
A rapid molecular approach for chromosomal phasingQ35147393
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysisQ35209735
Feasibility of noninvasive prenatal testing for common fetal aneuploidies in an early gestational windowQ35304735
Noninvasive whole-genome sequencing of a human fetus.Q36048523
Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencingQ36998320
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
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.Q37514951
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosageQ37745036
The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress madeQ38099617
Cystic fibrosis genetics: from molecular understanding to clinical applicationQ38268916
New trend in non-invasive prenatal diagnosisQ38301353
Phloridzin derivatives inhibiting pro-inflammatory cytokine expression in human cystic fibrosis IB3-1 cells.Q38849435
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.Q40057027
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.Q42199595
Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencingQ44339091
The causes of misdiagnosis and adverse outcomes in PGD.Q45717027
Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene DiseasesQ45862706
Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.Q45885294
Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy lossQ46987831
Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.Q51381812
Congenital adrenal hyperplasia.Q52010571
P4510describes a project that usesggplot2Q326489
CytoscapeQ3699942
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)326-339
P577publication date2017-08-24
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleSensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping
P478volume101

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cites work (P2860)
Q92620044A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia
Q98475414Evaluation of Beta -Thalassemia in the Fetus through cffDNA with Multiple Polymorphisms as a Haplotype in the Beta-Globin Gene
Q90467894Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia
Q98287686How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples
Q91794894Nondestructive Identification of Rare Trophoblastic Cells by Endoplasmic Reticulum Staining for Noninvasive Prenatal Testing of Monogenic Diseases
Q89556540Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
Q90366836Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband
Q102379514Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases
Q64983063Recent trends in prenatal genetic screening and testing.
Q55209536Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.
Q47191639cfDNA screening and diagnosis of monogenic disorders - where are we heading?

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