SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

(2012) Y Qiao et al.   CLINICAL GENETICS

High resolution array in the clinical approach to chromosomal phenotypes

(2012) Isabel Filges et al.   GENE

Uniparental disomy: can SNP array data be used for diagnosis?

(2012) Tracy Tucker et al.   GENETICS IN MEDICINE

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

(2012) Malgorzata I Srebniak et al.   Molecular Cytogenetics

UPD detection using homozygosity profiling with a SNP genotyping microarray

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

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

(2011) Tracy Tucker et al.   BMC Medical Genomics

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

(2011) G D'Amours et al.   CLINICAL GENETICS

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Clinical Laboratory Implementation of Cytogenomic Microarrays

(2011) S.T. South et al.   CYTOGENETIC AND GENOME RESEARCH

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

(2011) Malgorzata Srebniak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

(2011) N. J. Neill et al.   GENOME RESEARCH

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

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN 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

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations

(2010) Joël Zlotogora et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

(2010) Sung-Hae L. Kang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

(2010) Katrin Männik et al.   European Journal of Medical Genetics

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

(2010) Eva Wohlleber et al.   European Journal of Medical Genetics

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

(2010) Fowzan S Alkuraya   GENETICS IN MEDICINE

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

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Automation in an Array Comparative Genomic Hybridization Laboratory Improves Throughput and Data Quality

(2010) Seth M. Taapken et al.   Journal of the Association for Laboratory Automation.

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

(2010) Nicholas J Neill et al.   Molecular Cytogenetics

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

(2010) Jayne Y. Hehir-Kwa et al.   PLoS Computational Biology

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 new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

(2009) Antoinet CJ Gijsbers et al.   EUROPEAN JOURNAL OF HUMAN 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

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

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

Genomic imprinting disorders in humans: a mini-review

(2009) Merlin G. Butler   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Retards mentaux d’origine génétique

(2009) A. Goldenberg et al.   PATHOLOGIE BIOLOGIE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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