Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

(2013) Agatino Battaglia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

(2013) Catherine W. Rehder et al.   GENETICS IN MEDICINE

High resolution chromosomal microarray in undiagnosed neurological disorders

(2013) Katherine B Howell et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

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

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

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients

(2013) Joo Wook Ahn et al.   Molecular Cytogenetics

Application of chromosomal microarray in the evaluation of abnormal prenatal findings

(2012) SA Yatsenko et al.   CLINICAL GENETICS

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

Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

(2012) Uma M. Reddy 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

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

(2012) A. Novelli et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

(2012) Curtis R Coughlin et al.   Genome Medicine

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

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

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

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

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

Hotspots of Large Rare Deletions in the Human Genome

(2010) W. Edward C. Bradley et al.   PLoS One

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

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

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

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

(2009) Ron Hochstenbach et al.   European Journal of Medical Genetics

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

(2009) Gurdeep S Sagoo et al.   GENETICS IN MEDICINE

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

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

(2009)   OBSTETRICS AND GYNECOLOGY

De novobalanced chromosome rearrangements in prenatal diagnosis

(2009) Daniela Giardino et al.   PRENATAL DIAGNOSIS

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene

(2008) Ashish Kapoor et al.   ANNALS OF NEUROLOGY

Clinical Utility of Contemporary Molecular Cytogenetics

(2008) Bassem A. Bejjani et al.   Annual Review of Genomics and Human Genetics

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE