Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies

(2015) Diane Van Opstal et al.   HUMAN MUTATION

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis

(2015) M. I. Srebniak et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

(2013) Malgorzata I Srebniak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Committee Opinion No. 581

(2013)   OBSTETRICS AND GYNECOLOGY

Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases

(2013) F. Scott et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

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

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

(2013) M. C. de wit et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies

(2012) C-N Lee et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

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

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

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

Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial

(2012) Ronald J. Wapner et al.   PRENATAL DIAGNOSIS

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

(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

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

(2012) Malgorzata I Srebniak et al.   Molecular Cytogenetics

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

(2011) ER Riggs et al.   CLINICAL GENETICS

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

(2011) Malgorzata Srebniak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

(2011) G. Pichert et al.   JOURNAL OF MEDICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

(2010) Catherine E. Cottrell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Understanding variable expressivity in microdeletion syndromes

(2010) Joris A Veltman et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis

(2010) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY