Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

(2011) Peining Li et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

(2011) A. Nicoulaz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy Number and SNP Arrays in Clinical Diagnostics

(2011) Christian P. Schaaf et al.   Annual Review of Genomics and Human Genetics

Copy-number changes in prenatal diagnosis

(2011) Melissa Strassberg et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

(2011) Paola Evangelidou et al.   Molecular Cytogenetics

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

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Penetrance for copy number variants associated with schizophrenia

(2010) E. Vassos et al.   HUMAN MOLECULAR GENETICS

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

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

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

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

(2010) Idit Maya et al.   PRENATAL DIAGNOSIS

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

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

(2009) Caroline Schluth-Bolard et al.   European Journal of Medical Genetics

Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience

(2009) F. Vialard et al.   FETAL DIAGNOSIS AND THERAPY

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

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

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

ACOG Committee Opinion No. 446: Array Comparative Genomic Hybridization in Prenatal Diagnosis

(2009)   OBSTETRICS AND GYNECOLOGY

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

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The array CGH and its clinical applications

(2008) Marwan Shinawi et al.   DRUG DISCOVERY TODAY

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

(2008) Sandra Darilek et al.   GENETICS IN MEDICINE

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

(2008) X.-Y. Lu et al.   PEDIATRICS

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

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

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

(2008) Weimin Bi et al.   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

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

(2008) Carolina Sismani et al.   Molecular Cytogenetics