Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

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

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

Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience

(2013) C. Liao et al.   CLINICAL GENETICS

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

(2013) Anneke T. Vulto-van Silfhout et al.   European Journal of Medical Genetics

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings?

(2013) S. C. Hillman et al.   Journal of Maternal-Fetal & Neonatal Medicine

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

Committee Opinion No. 581

(2013)   OBSTETRICS AND GYNECOLOGY

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

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

(2013) Jonathan L. A. Callaway et al.   PRENATAL DIAGNOSIS

Noninvasive fetal genome sequencing: a primer

(2013) Matthew W. Snyder et al.   PRENATAL DIAGNOSIS

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

(2013) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Noninvasive prenatal testing for aneuploidy–ready for prime time?

(2012) Lyn S. Chitty et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities

(2012) Francesco Fiorentino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

The introduction of arrays in prenatal diagnosis: A special challenge

(2012) Annalisa Vetro et al.   HUMAN MUTATION

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Referral patterns for microarray testing in prenatal diagnosis

(2012) Lisa G. Shaffer et al.   PRENATAL DIAGNOSIS

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

(2012) Lisa G. Shaffer et al.   PRENATAL DIAGNOSIS

Quantitative fluorescence PCR analysis of >40 000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X

(2012) Kathy Mann et al.   PRENATAL DIAGNOSIS

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

(2011) R. Hochstenbach et al.   CYTOGENETIC AND GENOME RESEARCH

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

(2010) Nicholas J Neill et al.   Molecular Cytogenetics

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

(2009) Justine Coppinger et al.   PRENATAL DIAGNOSIS