Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

(2013) P Callier et al.   CLINICAL GENETICS

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability

(2013) Laia Rodríguez-Revenga et al.   GENE

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease

(2013) Areti Syrmou et al.   PEDIATRIC RESEARCH

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

(2012) Simone Sanna-Cherchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

(2012) Magdalena Bartnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

(2012) Angelo Valetto et al.   European Journal of Medical Genetics

Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation

(2012) Yuan Wei et al.   Journal of Genetics and Genomics

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

(2012) Ivan Y Iourov et al.   Molecular Cytogenetics

12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes

(2011) Erin L. Youngs et al.   CLINICAL DYSMORPHOLOGY

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

The phenotype of recurrent 10q22q23 deletions and duplications

(2011) Bregje W M van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

(2011) Goran Cuturilo et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

(2011) T. Y. Leung et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting

(2010) J Wincent et al.   CLINICAL GENETICS

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

(2010) Anne Chun-Hui Tsai et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

(2010) Shin Hayashi et al.   JOURNAL OF HUMAN GENETICS

A double hit implicates DIAPH3 as an autism risk gene

(2010) J A S Vorstman et al.   MOLECULAR PSYCHIATRY

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

(2009) JM Friedman et al.   BMC GENOMICS

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

(2009) Sujana Reddy et al.   European Journal of Medical 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

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

(2009) Dominic J. McMullan et al.   HUMAN MUTATION

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

(2009) B. Thienpont et al.   JOURNAL OF MEDICAL GENETICS

Heterozygous deletion at 14q22.1-q22.3 including theBMP4gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

(2008) Shin Hayashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

(2008) X.-Y. Lu et al.   PEDIATRICS