Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome

(2012) Lindsay C. Burrage et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brain Copy Number Variants and Neuropsychiatric Traits

(2012) James R. Lupski   BIOLOGICAL PSYCHIATRY

Clinical significance of large rearrangements inBRCA1andBRCA2

(2012) Thaddeus Judkins et al.   CANCER

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

(2012) Christian P Schaaf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Incidental copy-number variants identified by routine genome testing in a clinical population

(2012) Philip M. Boone et al.   GENETICS IN MEDICINE

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

UPD detection using homozygosity profiling with a SNP genotyping microarray

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

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

(2011) N. de Leeuw et al.   CYTOGENETIC AND GENOME RESEARCH

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

(2011) Philip M Boone 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

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

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms

(2011) Rajini R. Haraksingh et al.   PLoS One

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

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

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

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

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

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

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Copy number variation and human genome maps

(2010) Steven A McCarroll   NATURE GENETICS

Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome

(2009) I. Balikova et al.   HUMAN MUTATION

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

(2009) Donald F. Conrad et al.   NATURE

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Array-Based DNA Diagnostics: Let the Revolution Begin

(2007) Arthur L. Beaudet et al.   Annual Review of Medicine