Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Female dystrophinopathy: Review of current literature

(2018) Masatoshi Ishizaki et al.   NEUROMUSCULAR DISORDERS

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing

(2018) Nathalie Brison et al.   PRENATAL DIAGNOSIS

Sequencing of Circulating Cell-free DNA during Pregnancy

(2018) Diana W. Bianchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

(2016) Roy B. Lefkowitz et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

(2016) Nathalie Brison et al.   GENETICS IN MEDICINE

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies

(2016) R. Li et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Clinical implementation of NIPT - technical and biological challenges

(2015) P. Brady et al.   CLINICAL GENETICS

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

(2015) Baran Bayindir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies

(2015) Diana W. Bianchi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

(2015) Frédéric Amant et al.   JAMA Oncology

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

(2014) K. Nguyen et al.   CLINICAL GENETICS

The burden of Duchenne muscular dystrophy: An international, cross-sectional study

(2014) E. Landfeldt et al.   NEUROLOGY

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

(2014) Diana W. Bianchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Change-point model on nonhomogeneous Poisson processes with application in copy number profiling by next-generation DNA sequencing

(2012) Jeremy J. Shen et al.   Annals of Applied Statistics

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION