Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

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

Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion

(2012) Can Huang et al.   GENE

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

(2012) Lauren Grote et al.   GENETICS IN MEDICINE

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

The introduction of arrays in prenatal diagnosis: A special challenge

(2012) Annalisa Vetro et al.   HUMAN MUTATION

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

(2012) Joris R. Vermeesch et al.   HUMAN MUTATION

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

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

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

(2012) George McGillivray et al.   PRENATAL DIAGNOSIS

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

(2012) Amy Breman et al.   PRENATAL DIAGNOSIS

Loss of Tgif Function Causes Holoprosencephaly by Disrupting the Shh Signaling Pathway

(2012) Kenichiro Taniguchi et al.   PLoS Genetics

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

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

(2011) Damien L. Bruno et al.   HUMAN MUTATION

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

(2011) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Rapid High-Resolution Mapping of Balanced Chromosomal Rearrangements on Tiling CGH Arrays

(2011) Harvey A. Greisman et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Identification of incestuous parental relationships by SNP-based DNA microarrays

(2011) CP Schaaf et al.   LANCET

Regulation of Cortical Neuron Migration by the Reelin Signaling Pathway

(2011) Takao Honda et al.   NEUROCHEMICAL RESEARCH

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

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

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

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

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

Developmental Disability: Duplication of Zinc Finger Transcription Factors 673 and 674

(2010) Vijay Ramaswamy et al.   PEDIATRIC NEUROLOGY

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

FEZ1 interacts with CLASP2 and NEK1 through coiled-coil regions and their cellular colocalization suggests centrosomal functions and regulation by PKC

(2009) Daniel C. F. Lanza et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

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

Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

(2008) Chloé Quélin et al.   European Journal of Medical Genetics

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

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

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