Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

(2010) Yiping Shen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Structural Variation in the Human Genome and its Role in Disease

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

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

(2010) Christian P Schaaf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number variants at Williams–Beuren syndrome 7q11.23 region

(2010) Giuseppe Merla et al.   HUMAN GENETICS

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome

(2010) Ellen Hanson et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Increased striatal injury and behavioral deficits after intracerebral hemorrhage in hemopexin knockout mice

(2010) Lifen Chen et al.   JOURNAL OF NEUROSURGERY

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

(2010) R. G. Walters et al.   NATURE

Ten ways to improve the quality of descriptions of whole-animal movement

(2010) Yoav Benjamini et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

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

(2010) Guénola Ricard et al.   PLOS BIOLOGY

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability

(2009) John B Moeschler   CURRENT OPINION IN NEUROLOGY

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice

(2009) Hong Hua Li et al.   EMBO Molecular Medicine

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

(2009) Keiko Shimojima et al.   European Journal of Medical 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

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

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

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

Automated analysis of postoperative behaviour: assessment of HomeCageScan as a novel method to rapidly identify pain and analgesic effects in mice

(2009) J V Roughan et al.   LABORATORY ANIMALS

TAp63 induces senescence and suppresses tumorigenesis in vivo

(2009) Xuecui Guo et al.   NATURE CELL BIOLOGY

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

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

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS

High resolution three-dimensional brain atlas using an average magnetic resonance image of 40 adult C57Bl/6J mice

(2008) A.E. Dorr et al.   NEUROIMAGE

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE