Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

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

(2014) Dingyuan Ma et al.   GENE

Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease

(2014) Yanqin You et al.   GENETICS IN MEDICINE

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 detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

(2013) E. Mersy et al.   HUMAN REPRODUCTION UPDATE

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

(2013) Eric Wang et al.   PRENATAL DIAGNOSIS

Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing

(2013) Shengpei Chen et al.   Genome 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

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

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

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

(2012) F. Javier Fernández-Martínez et al.   GENETICS IN MEDICINE

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Noninvasive Whole-Genome Sequencing of a Human Fetus

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

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

(2012) Elisavet A Papageorgiou et al.   Genome Medicine

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

(2011) N. B. Y. Tsui et al.   BLOOD

Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA

(2011) Stephanie A. Devaney et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families

(2011) Florencia Giliberto et al.   MUSCLE & NERVE

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

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

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

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

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

Non-invasive fetal RHD genotyping tests: A systematic review of the quality of reporting of diagnostic accuracy in published studies

(2008) Karoline Freeman et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

(2008) A. BUSTAMANTE-ARAGONES et al.   HAEMOPHILIA

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

(2008) C. F. Wright et al.   HUMAN REPRODUCTION UPDATE

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