A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis ofβ-Thalassaemia

Identifying a small set of marker genes using minimum expected cost of misclassification

(2012) Samuel H. Huang et al.   ARTIFICIAL INTELLIGENCE IN MEDICINE

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

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis

(2012) Marion Phylipsen et al.   PRENATAL DIAGNOSIS

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species

(2011) Paul J. Kersey et al.   NUCLEIC ACIDS RESEARCH

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

(2010) S. Galbiati et al.   CLINICAL CHEMISTRY

Relationship between the severity of β-thalassaemia syndromes and the number of alleviating mutations

(2010) S. Ratip et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Database resources of the National Center for Biotechnology Information

(2010) E. W. Sayers et al.   NUCLEIC ACIDS RESEARCH

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

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

An Electronic Infrastructure for Research and Treatment of the Thalassemias and Other Hemoglobinopathies: The Euro-Mediterranean Ithanet Project

(2009) Carsten W. Lederer et al.   HEMOGLOBIN

Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: Simultaneous detection of SMN1 and SMN2 deletion

(2009) Ibrahim Baris et al.   MOLECULAR AND CELLULAR PROBES

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