Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Diagnostic accuracy of the BACs-on-Beads™assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series

(2014) KW Choy et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

(2014) J. Besseau-Ayasse et al.   PRENATAL DIAGNOSIS

Neonatal hypocalcemia, neonatal seizures and intellectual disability in 22q11.2 deletion syndrome

(2013) Evelyn Ning Man Cheung et al.   GENETICS IN MEDICINE

Committee Opinion No. 581

(2013)   OBSTETRICS AND GYNECOLOGY

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

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 versus Karyotyping for Prenatal Diagnosis

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

Prenatal BACs-on-BeadsTM: the prospective experience of five prenatal diagnosis laboratories

(2012) François Vialard 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

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

(2011) Lluís Armengol et al.   HUMAN GENETICS

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

(2011) F. Vialard et al.   PRENATAL DIAGNOSIS

Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes

(2011) Susan J. Gross et al.   PRENATAL DIAGNOSIS

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

(2011) Sang-Jin Park et al.   Molecular Cytogenetics

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE