Identification of fetal unmodified and 5-hydroxymethylated CG sites in maternal cell-free DNA for non-invasive prenatal testing

Precise genomic mapping of 5-hydroxymethylcytosine via covalent tether-directed sequencing

(2020) Povilas Gibas et al.   PLOS BIOLOGY

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

(2019) Olga Žilina et al.   PRENATAL DIAGNOSIS

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

(2018) Martin Sauk et al.   Scientific Reports

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

Comparing methods for fetal fraction determination and quality control of NIPT samples

(2017) Daphne M. van Beek et al.   PRENATAL DIAGNOSIS

EnhancerAtlas: a resource for enhancer annotation and analysis in 105 human cell/tissue types

(2016) Tianshun Gao et al.   BIOINFORMATICS

Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21

(2016) Da Eun Lee et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts

(2015) Sung K. Kim et al.   PRENATAL DIAGNOSIS

Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis

(2015) R. Akolekar et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Whole genome bisulfite sequencing of cell-free DNA and its cellular contributors uncovers placenta hypomethylated domains

(2015) Taylor J Jensen et al.   GENOME BIOLOGY

Reducing the risk of false discovery enabling identification of biologically significant genome-wide methylation status using the HumanMethylation450 array

(2014) Haroon Naeem et al.   BMC GENOMICS

Whole-genome analysis of 5-hydroxymethylcytosine and 5-methylcytosine at base resolution in the human brain

(2014) Lu Wen et al.   GENOME BIOLOGY

Noninvasive Prenatal Methylomic Analysis by Genomewide Bisulfite Sequencing of Maternal Plasma DNA

(2013) F. M. F. Lun et al.   CLINICAL CHEMISTRY

DNA unmethylome profiling by covalent capture of CpG sites

(2013) Edita Kriukienė et al.   Nature Communications

Global DNA Hypermethylation in Down Syndrome Placenta

(2013) Shengnan Jin et al.   PLoS Genetics

MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21

(2012) Evdokia Tsaliki et al.   PRENATAL DIAGNOSIS

Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

(2011) A. J. Sehnert et al.   CLINICAL CHEMISTRY

Tissue type is a major modifier of the 5-hydroxymethylcytosine content of human genes

(2011) C. E. Nestor et al.   GENOME RESEARCH

Decreased AIRE Expression and Global Thymic Hypofunction in Down Syndrome

(2011) F. A. Lima et al.   JOURNAL OF IMMUNOLOGY

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

(2011) Elisavet A Papageorgiou et al.   NATURE MEDICINE

Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006

(2010) Samantha E. Parker et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing

(2010) H. C. Fan et al.   CLINICAL CHEMISTRY

Selective chemical labeling reveals the genome-wide distribution of 5-hydroxymethylcytosine

(2010) Chun-Xiao Song et al.   NATURE BIOTECHNOLOGY

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

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Sites of Differential DNA Methylation between Placenta and Peripheral Blood

(2009) Elisavet A. Papageorgiou et al.   AMERICAN JOURNAL OF PATHOLOGY

A weakly informative default prior distribution for logistic and other regression models

(2009) Andrew Gelman et al.   Annals of Applied Statistics

Noninvasive Prenatal Detection of Trisomy 21 by an Epigenetic-Genetic Chromosome-Dosage Approach

(2009) Y. K. Tong et al.   CLINICAL CHEMISTRY

Human DNA methylomes at base resolution show widespread epigenomic differences

(2009) Ryan Lister et al.   NATURE

Systematic Search for Placental DNA-Methylation Markers on Chromosome 21: Toward a Maternal Plasma-Based Epigenetic Test for Fetal Trisomy 21

(2008) S. S.C. Chim et al.   CLINICAL CHEMISTRY

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

(2008) F. M. F. Lun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA