An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Trends in the Prevalence of Developmental Disabilities in US Children, 1997-2008

(2011) C. A. Boyle et al.   PEDIATRICS

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca 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

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

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Public data archives for genomic structural variation

(2010) Deanna M Church et al.   NATURE GENETICS

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

(2010) John CK Barber et al.   Molecular Cytogenetics

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

(2009) Anna Brunet et al.   BMC Medical Genetics

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

(2009) Marjolein H Willemsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

(2009) Luis M Franco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

(2009) Karen D Tsuchiya et al.   GENETICS IN MEDICINE

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

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

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

(2008) Beverly S. Emanuel   Developmental Disabilities Research Reviews

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

(2008) Erin L Baldwin et al.   GENETICS IN MEDICINE

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

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

(2008) Andrew J Sharp et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri 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

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics