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

Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism–based noninvasive prenatal test

(2015) Kirsten J. Curnow et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

(2015) Ronald J. Wapner et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing

(2015) Shaowei Wang et al.   CLINICA CHIMICA ACTA

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

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy

(2015) Nicola Flowers et al.   PRENATAL DIAGNOSIS

Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing

(2015) J. Helgeson et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

(2015) H. Zhang et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study

(2015) Peter Vandenberghe et al.   Lancet Haematology

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

(2015) Frédéric Amant et al.   JAMA Oncology

Danon Disease

(2014) Ryan S. D’souza et al.   Circulation-Heart Failure

Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

(2014) Olivier Vanakker et al.   European Journal of Medical Genetics

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples

(2014) Ron M. McCullough et al.   PLoS One

Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

(2013) Anupama Srinivasan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

(2013) Y. Wang et al.   CLINICAL CHEMISTRY

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

(2013) Johanna Czeschik et al.   Orphanet Journal of Rare Diseases

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

(2013) Elles M. J. Boon et al.   PRENATAL DIAGNOSIS

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

(2013) C. Michael Osborne et al.   PRENATAL DIAGNOSIS

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

(2013) Tze Kin Lau et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal testing for aneuploidy: current status and future prospects

(2013) P. Benn et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The genetic variability and commonality of neurodevelopmental disease

(2012) Bradley P. Coe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

(2012) Mary E. Norton et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

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

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Copy number variations in neurodevelopmental disorders

(2012) Hannah M. Grayton et al.   PROGRESS IN NEUROBIOLOGY

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

(2011) Mathias Ehrich et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

CNV-WebStore: Online CNV Analysis, Storage and Interpretation

(2011) Geert Vandeweyer et al.   BMC BIOINFORMATICS

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

(2011) Trilochan Sahoo et al.   GENETICS IN MEDICINE

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

(2011) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

(2010) Nicole de Leeuw et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles

(2010) G. J. W. Liao et al.   CLINICAL CHEMISTRY

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

(2008) Mylène Béri-Dexheimer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS