Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing

OP35.09: Risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis

(2014) R. Akolekar et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

(2013) Thessalia Papasavva et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing

(2013) D. I. Lou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to  -Thalassemia

(2012) K.-W. G. Lam et al.   CLINICAL CHEMISTRY

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

A method for counting PCR template molecules with application to next-generation sequencing

(2011) J. A. Casbon et al.   NUCLEIC ACIDS RESEARCH

Detection and quantification of rare mutations with massively parallel sequencing

(2011) I. Kinde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

(2011) Daniel Aird et al.   GENOME BIOLOGY

Full COLD-PCR Protocol for Noninvasive Prenatal Diagnosis of Genetic Diseases

(2010) S. Galbiati et al.   CLINICAL CHEMISTRY

Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles

(2010) G. J. W. Liao et al.   CLINICAL CHEMISTRY

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

(2010) Ann Tabor et al.   FETAL DIAGNOSIS AND THERAPY

Beta-thalassemia

(2010) Antonio Cao et al.   GENETICS IN MEDICINE

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

Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders

(2010) Roshan Colah et al.   Expert Review of Hematology

Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β-Thalassemia Based on Detection of Single Nucleotide Polymorphisms

(2009) Thessalia Papasavva et al.   Annals of the New York Academy of Sciences

Size Fractionation of Cell-Free DNA in Maternal Plasma Improves the Detection of a Paternally Inherited β-Thalassemia Point Mutation by MALDI-TOF Mass Spectrometry

(2009) Ying Li et al.   FETAL DIAGNOSIS AND THERAPY

Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma

(2008) F. M. F. Lun et al.   CLINICAL CHEMISTRY

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of  -thalassemia

(2008) S. Galbiati et al.   HAEMATOLOGICA

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