The clinical context of copy number variation in the human genome

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children

(2009) Ludmila Shostakovich-Koretskaya et al.   AIDS

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

(2009) Katarina Dathe 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

α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism

(2009) Pablo Ibáñez   ARCHIVES OF NEUROLOGY

Copy number variation in the human genome and its implication in autoimmunity

(2009) H. Schaschl et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

The emerging role of structural variations in common disorders: initial findings and discovery challenges

(2009) L. Armengol et al.   CYTOGENETIC AND GENOME RESEARCH

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

(2009) S. Goobie et al.   CYTOGENETIC AND GENOME RESEARCH

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported

(2009) Claudia Fagali et al.   European Journal of Medical Genetics

Copy number variation in the CCL4L gene is associated with susceptibility to acute rejection in lung transplantation

(2009) R Colobran et al.   GENES AND IMMUNITY

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

(2009) Kiran K. Mantripragada et al.   GENES CHROMOSOMES & CANCER

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

(2009) Sara Anne Adams et al.   GENETICS IN MEDICINE

The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group

(2009) S.-M. Ahn et al.   GENOME RESEARCH

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

(2009) K. J. McKernan et al.   GENOME RESEARCH

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Copy number variants, diseases and gene expression

(2009) C. N. Henrichsen et al.   HUMAN MOLECULAR GENETICS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

(2009) J. Coppinger et al.   HUMAN MOLECULAR GENETICS

Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future

(2009) Maaike Alaerts et al.   HUMAN MUTATION

Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008

(2009) Anthony J. Brookes et al.   HUMAN MUTATION

An integrated approach for measuring copy number variation at theFCGR3(CD16) locus

(2009) Edward J. Hollox et al.   HUMAN MUTATION

Accurate determination of copy number variations (CNVs): Application to the α- and β-defensin CNVs

(2009) Hilde Nuytten et al.   JOURNAL OF IMMUNOLOGICAL METHODS

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing

(2009) T Schwarzbraun et al.   JOURNAL OF MEDICAL GENETICS

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

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

Differences in SMN1 allele frequencies among ethnic groups within North America

(2009) B C Hendrickson et al.   JOURNAL OF MEDICAL GENETICS

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis

(2009) V Marcel et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Genomic copy number variation, human health, and disease

(2009) Louise V Wain et al.   LANCET

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Copy number variation at 1q21.1 associated with neuroblastoma

(2009) Sharon J. Diskin et al.   NATURE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease

(2009) Steven A McCarroll et al.   NATURE GENETICS

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

(2009) Rafael de Cid et al.   NATURE GENETICS

The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells

(2009) Patrick Cahan et al.   NATURE GENETICS

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

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

(2009) Can Alkan et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data

(2009) Sarah E Ali-Khan et al.   PEDIATRIC RESEARCH

Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups

(2009) Lluís Armengol et al.   PLoS One

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

(2009) J. O. Korbel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

The cycle of genome-directed medicine

(2009) Janet A Buchanan et al.   Genome Medicine

Copy number variations and cancer

(2009) Adam Shlien et al.   Genome Medicine

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

(2009) Anna C. Need et al.   PLoS Genetics

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

(2009) Hajime Matsuzaki et al.   GENOME BIOLOGY

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

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

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder 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

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

(2008) David O. Robinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

(2008) E.K. Schorry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

(2008) Claudia Torniero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases

(2008) Manfred Stuhrmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

When good CF tests go bad

(2008) Trudi Mc Devitt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

(2008) Robert Lyle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The molecular and cellular defects underlying Pelizaeus–Merzbacher disease

(2008) Karen J. Woodward   EXPERT REVIEWS IN MOLECULAR MEDICINE

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

(2008) G Bradley Schaefer et al.   GENETICS IN MEDICINE

Contemplating effects of genomic structural variation

(2008) Janet A Buchanan et al.   GENETICS IN MEDICINE

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

(2008) I. Cusco et al.   GENOME RESEARCH

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

(2008) P. M. Kim et al.   GENOME RESEARCH

Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1

(2008) E. J. Hollox et al.   GENOME RESEARCH

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

(2008) Iuliana Ionita-Laza et al.   GENOMICS

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

(2008) Laura Alías et al.   HUMAN GENETICS

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

(2008) R. Tomaiuolo et al.   Journal of Cystic Fibrosis

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

Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

(2008) Margaret P. Adam et al.   JOURNAL OF PEDIATRICS

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Genotype, haplotype and copy-number variation in worldwide human populations

(2008) Mattias Jakobsson et al.   NATURE

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

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

(2008) Andrew J Sharp et al.   NATURE GENETICS

Phenotypic variations on the theme of CNVs

(2008) Michael C O'Donovan et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll 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

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

High-resolution mapping of copy-number alterations with massively parallel sequencing

(2008) Derek Y Chiang et al.   NATURE METHODS

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

Psychiatric genetics: progress amid controversy

(2008) Margit Burmeister et al.   NATURE REVIEWS GENETICS

Human uniqueness: genome interactions with environment, behaviour and culture

(2008) Ajit Varki et al.   NATURE REVIEWS 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

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

(2008) A. Shlien et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

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

(2008) Blake C Ballif et al.   Molecular Cytogenetics