Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population

Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

(2016) Michael Parks et al.   PRENATAL DIAGNOSIS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications

(2015) Ada I.C. Wong et al.   TRENDS IN MOLECULAR MEDICINE

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing

(2014) Dingyuan Ma et al.   GENE

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

(2014) Meng Meng et al.   GENETICS IN MEDICINE

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study

(2014) L. S. Chitty et al.   BMJ-British Medical Journal

High-Resolution Profiling of Fetal DNA Clearance from Maternal Plasma by Massively Parallel Sequencing

(2013) S. C. Y. Yu et al.   CLINICAL CHEMISTRY

Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aneuploidies and Monosomy X

(2013) R. P. Rava et al.   CLINICAL CHEMISTRY

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

Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma

(2013) Eric Wang et al.   PRENATAL DIAGNOSIS

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

(2013) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

(2013) Nicholas Lench et al.   PRENATAL DIAGNOSIS

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

(2013) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

pIRS: Profile-based Illumina pair-end reads simulator

(2012) Xuesong Hu et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

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

Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia

(2012) A. N. Barrett et al.   CLINICAL CHEMISTRY

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Cell-free Nucleic Acids as Potential Markers for Preeclampsia

(2011) S. Hahn et al.   PLACENTA

Non-invasive prenatal determination of fetal sex: translating research into clinical practice

(2010) M Hill et al.   CLINICAL GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS