Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

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

Do chromatin loops provide epigenetic gene expression states?

(2010) Wulan Deng et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The effect of translocation-induced nuclear reorganization on gene expression

(2010) L. Harewood et al.   GENOME RESEARCH

Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2)

(2010) Diane E. Treadwell-Deering et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

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

(2010) R. G. Walters et al.   NATURE

Genomic disorders: A window into human gene and genome evolution

(2010) C. M. B. Carvalho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Gene copy number variation and common human disease

(2009) M Fanciulli et al.   CLINICAL GENETICS

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

ORIGINAL ARTICLE: Genomic sister-disorders of neurodevelopment: an evolutionary approach

(2009) Bernard Crespi et al.   Evolutionary Applications

Copy number variants, diseases and gene expression

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

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Elena G. Bochukova et al.   NATURE

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

(2009) Donald F. Conrad et al.   NATURE

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

(2009) Patrick Cahan et al.   NATURE GENETICS

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Segmental copy number variation shapes tissue transcriptomes

(2009) Charlotte N Henrichsen et al.   NATURE GENETICS

Genetic Compensation in a Human Genomic Disorder

(2009) Nadège Carelle-Calmels et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comparative genomics of autism and schizophrenia

(2009) B. Crespi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Psychosis and autism as diametrical disorders of the social brain

(2008) Bernard Crespi et al.   BEHAVIORAL AND BRAIN SCIENCES

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

(2008) Santhosh Girirajan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Smith–Magenis syndrome

(2008) Sarah H Elsea et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) Iuliana Ionita-Laza et al.   GENOMICS

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

(2008) Jessica Molina et al.   HUMAN MOLECULAR GENETICS

Extending genome-wide association studies to copy-number variation

(2008) S. A. McCarroll   HUMAN MOLECULAR GENETICS

Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples

(2008) S Le Hellard et al.   MOLECULAR PSYCHIATRY

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Mouse segmental duplication and copy number variation

(2008) Xinwei She 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

Effect of polymorphisms within probe–target sequences on olignonucleotide microarray experiments

(2008) David Benovoy et al.   NUCLEIC ACIDS RESEARCH

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

The functional impact of structural variation in humans

(2008) Matthew E. Hurles et al.   TRENDS IN GENETICS

Recruitment to the Nuclear Periphery Can Alter Expression of Genes in Human Cells

(2008) Lee E. Finlan et al.   PLoS Genetics