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

1: A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis

(2011) Ronald Wapner   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

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

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

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

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

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

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

(2010) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

(2010) B. H. W. Faas et al.   JOURNAL OF MEDICAL GENETICS

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

(2010) Idit Maya et al.   PRENATAL DIAGNOSIS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

(2009) Luis Fernández et al.   BMC Medical Genetics

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

(2009) Nathalie Van der Aa et al.   European Journal of Medical Genetics

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

(2009) M Tyreman et al.   JOURNAL OF MEDICAL GENETICS

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

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

(2009) Linda Kleeman et al.   PRENATAL DIAGNOSIS

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Array comparative genomic hybridization in global developmental delay

(2008) M.I. Shevell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

(2008) Lisa G. Shaffer et al.   PRENATAL DIAGNOSIS

High-resolution array genomic hybridization in prenatal diagnosis

(2008) J. M. Friedman   PRENATAL DIAGNOSIS

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

(2008) Ignatia B. Van den Veyver et al.   PRENATAL DIAGNOSIS