Research graph
References from Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends. Local targets link to admitted publications; unresolved targets remain external evidence.
Pregnancy loss after chorionic villus sampling and genetic amniocentesis in twin pregnancies: a systematic review
10.1002/uog.10152 · 2012 · External reference
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis
10.1002/uog.14636 · 2015 · External reference
10.1073/pnas.0808319105
10.1073/pnas.0808319105 · External reference
10.1073/pnas.0705765104
10.1073/pnas.0705765104 · External reference
Non-invasive prenatal determination of fetal sex: translating research into clinical practice
10.1111/j.1399-0004.2010.01533.x · 2011 · External reference
10.1016/j.ajhg.2019.10.005
10.1016/j.ajhg.2019.10.005 · External reference
10.1016/j.ajhg.2012.12.006
10.1016/j.ajhg.2012.12.006 · External reference
High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm
10.1002/pd.4331 · 2014 · External reference
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications
10.1371/journal.pone.0171319 · 2017 · External reference
Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service
10.1046/j.1537-2995.2002.00165.x · 2002 · External reference
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma
10.1093/clinchem/46.2.301 · 2000 · External reference
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
10.1016/s0140-6736(00)02767-7 · 2000 · External reference
Prenatal diagnosis: progress through plasma nucleic acids
10.1038/nrg1982 · 2007 · External reference
Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks’ gestation: relation to maternal and fetal characteristics
10.1002/uog.12331 · 2013 · External reference
10.1073/pnas.0810373105
10.1073/pnas.0810373105 · External reference
Fetal genotyping in maternal blood by digital PCR: towards NIPD of monogenic disorders independently of parental origin
10.1371/journal.pone.0153258 · 2016 · External reference
10.1182/blood-2010-10-310789
10.1182/blood-2010-10-310789 · External reference
10.1373/clinchem.2011.178939
10.1373/clinchem.2011.178939 · External reference
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype
10.1111/bjd.16502 · 2018 · External reference
Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A
10.1016/j.jid.2018.04.032 · 2018 · External reference
10.1056/nejmoa1816614
10.1056/nejmoa1816614 · External reference
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews
2019 · External reference
10.1016/j.jid.2020.02.030
10.1016/j.jid.2020.02.030 · External reference
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
10.1016/s0140-6736(18)31940-8 · 2019 · External reference
10.1016/s0140-6736(18)32042-7
10.1016/s0140-6736(18)32042-7 · External reference
10.1126/scitranslmed.3001720
10.1126/scitranslmed.3001720 · External reference
10.1038/nature11251
10.1038/nature11251 · External reference
10.1126/scitranslmed.3004323
10.1126/scitranslmed.3004323 · External reference
10.1016/j.clinbiochem.2015.04.022
10.1016/j.clinbiochem.2015.04.022 · External reference
Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing
10.1186/gm422 · 2013 · External reference
Universal haplotype-based noninvasive prenatal testing for single gene diseases
10.1373/clinchem.2016.268375 · 2017 · External reference
Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy
10.1002/jcla.23046 · 2020 · External reference
10.1016/j.ajhg.2017.07.012
10.1016/j.ajhg.2017.07.012 · External reference
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends
2016 · External reference
10.1093/bioinformatics/btu356
10.1093/bioinformatics/btu356 · External reference
10.1038/s10038-018-0489-9
10.1038/s10038-018-0489-9 · External reference
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders
10.1101/gr.235796.118 · 2019 · External reference
10.1093/hmg/ddq400
10.1093/hmg/ddq400 · External reference
Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection
10.1093/bib/bbs013 · 2013 · External reference
10.1073/pnas.1418631112
10.1073/pnas.1418631112 · External reference
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Unresolved reference
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10.1002/pd.5662
10.1002/pd.5662 · External reference
Unresolved reference
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Systematic comparison of variant calling pipelines using gold standard personal exome variants
10.1038/srep17875 · 2015 · External reference
10.1016/j.placenta.2010.06.018
10.1016/j.placenta.2010.06.018 · External reference
Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia
10.1067/mob.2001.109594 · 2001 · External reference
Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia
10.1186/1471-2350-10-120 · 2009 · External reference
Maternal malignancy evaluation after discordant cell-free DNA results
10.1097/aog.0000000000002474 · 2018 · External reference
10.1002/pd.4940
10.1002/pd.4940 · External reference
Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening
10.1002/mgg3.597 · 2019 · External reference
10.1373/clinchem.2019.304238
10.1373/clinchem.2019.304238 · External reference
A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT
2019 · External reference
10.1038/s41591-018-0334-x
10.1038/s41591-018-0334-x · External reference
10.1002/pd.5102
10.1002/pd.5102 · External reference
