Clinical interpretation of copy number variants in the human genome

The 15q13.3 deletion syndrome: Deficient α7-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders

(2016) Stephen I. Deutsch et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders

(2015) Janani Iyer et al.   Briefings in Functional Genomics

Exome sequencing and whole genome sequencing for the detection of copy number variation

(2015) Jayne Y Hehir-Kwa et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Copy number variations and human genetic disease

(2014) Fady M. Mikhail   CURRENT OPINION IN PEDIATRICS

Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

(2014) Olivier Vanakker et al.   European Journal of Medical Genetics

Does rare matter? Copy number variants at 16p11.2 and the risk of psychosis: A systematic review of literature and meta-analysis

(2014) Giovanni Giaroli et al.   SCHIZOPHRENIA RESEARCH

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

(2014) Lauren Westerfield et al.   Journal of Clinical Medicine

Pathogenic or not? Assessing the clinical relevance of copy number variants

(2013) JY Hehir-Kwa et al.   CLINICAL GENETICS

Prenatal diagnosis using array-CGH: A French experience

(2013) Caroline Rooryck et al.   European Journal of Medical Genetics

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

(2013) Armand Valsesia et al.   Frontiers in Genetics

The genetic variability and commonality of neurodevelopmental disease

(2012) Bradley P. Coe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

(2012) Armand Valsesia et al.   BMC GENOMICS

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

(2012) Joris R. Vermeesch et al.   HUMAN MUTATION

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan 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

Copy number variations in neurodevelopmental disorders

(2012) Hannah M. Grayton et al.   PROGRESS IN NEUROBIOLOGY

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

(2011) A.C.J. Gijsbers et al.   CYTOGENETIC AND GENOME RESEARCH

Clinical Laboratory Implementation of Cytogenomic Microarrays

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

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

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

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

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

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

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

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

(2010) Mark S. Bateman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The clinical context of copy number variation in the human genome

(2010) Charles Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

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

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

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Towards a comprehensive structural variation map of an individual human genome

(2010) Andy W Pang et al.   GENOME BIOLOGY

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

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

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

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

Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family

(2009) Isabel Filges et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

(2009) Karen Buysse et al.   European Journal of Medical Genetics

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Private inherited microdeletion/microduplications: Implications in clinical practice

(2008) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics

Disruption of the neurexin 1 gene is associated with schizophrenia

(2008) Dan Rujescu et al.   HUMAN MOLECULAR GENETICS

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

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

(2008) Andrew J Sharp 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