4.5 Article

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression

Eyal Ben-David et al.

HUMAN MOLECULAR GENETICS (2011)

Article Biochemistry & Molecular Biology

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

Patricia B. S. Celestino-Soper et al.

HUMAN MOLECULAR GENETICS (2011)

Article Genetics & Heredity

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Santhosh Girirajan et al.

PLOS GENETICS (2011)

Article Genetics & Heredity

Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH

Philip M. Boone et al.

HUMAN MUTATION (2010)

Article Genetics & Heredity

Genomic disorders ten years on

James R. Lupski

GENOME MEDICINE (2009)

Article Genetics & Heredity

Structural variation of chromosomes in autism spectrum disorder

Christian R. Marshall et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders

Betul Bakkaloglu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Medicine, General & Internal

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Heather C. Mefford et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Genetics & Heredity

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Blake C. Ballif et al.

NATURE GENETICS (2007)

Article Genetics & Heredity

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Vera M. Kalscheuer et al.

HUMAN GENETICS (2007)

Article Multidisciplinary Sciences

Strong association of de novo copy number mutations with autism

Jonathan Sebat et al.

SCIENCE (2007)

Article Genetics & Heredity

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari et al.

NATURE GENETICS (2007)

Article Biochemistry & Molecular Biology

Characterization of a recurrent 15q24 microdeletion syndrome

Andrew J. Sharp et al.

HUMAN MOLECULAR GENETICS (2007)

Article Multidisciplinary Sciences

Global variation in copy number in the human genome

Richard Redon et al.

NATURE (2006)

Article Genetics & Heredity

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

J. M. Friedman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Genetics & Heredity

Detection of large-scale variation in the human genome

AJ Iafrate et al.

NATURE GENETICS (2004)

Article Multidisciplinary Sciences

Large-scale copy number polymorphism in the human genome

J Sebat et al.

SCIENCE (2004)

Article Genetics & Heredity

An ABCA4 genomic deletion in patients with Stargardt Disease

AN Yatsenko et al.

HUMAN MUTATION (2003)