cfDNA screening and diagnosis of monogenic disorders - where are we heading?

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

(2017) Michael Parks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Committee Opinion No. 691

(2017)   OBSTETRICS AND GYNECOLOGY

Committee Opinion No. 690

(2017)   OBSTETRICS AND GYNECOLOGY

Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases

(2016) Winnie W.I. Hui et al.   CLINICAL CHEMISTRY

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

(2016) Grace X Y Zheng et al.   NATURE BIOTECHNOLOGY

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

(2016) Talitha I. Verhoef et al.   PRENATAL DIAGNOSIS

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

(2016) Michael Parks et al.   PRENATAL DIAGNOSIS

Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

(2016) K. C. Allen Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

(2015) Janice G. Edwards et al.   OBSTETRICS AND GYNECOLOGY

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

(2015) Melissa Hill et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

(2015) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

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

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

(2014) Paula J P de Vree et al.   NATURE BIOTECHNOLOGY

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

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

(2013) Nicholas Lench et al.   PRENATAL DIAGNOSIS

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

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

(2011) N. B. Y. Tsui et al.   BLOOD

Beta-thalassemia

(2010) Renzo Galanello et al.   Orphanet Journal of Rare Diseases

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

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