Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2

Transmission Disequilibrium of Small CNVs in Simplex Autism

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Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

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The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

A Geometric Framework for Evaluating Rare Variant Tests of Association

(2013) Keli Liu et al.   GENETIC EPIDEMIOLOGY

Global increases in both common and rare copy number load associated with autism

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Genetic architecture in autism spectrum disorder

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Estimates of penetrance for recurrent pathogenic copy-number variations

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15q11.2 Proximal Imbalances Associated With a Diverse Array of Neuropsychiatric Disorders and Mild Dysmorphic Features

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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Common genetic variants, acting additively, are a major source of risk for autism

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Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable

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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

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

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A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

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Penetrance for copy number variants associated with schizophrenia

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Phenotypic variability and genetic susceptibility to genomic disorders

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Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

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

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

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

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