Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

(2011) Nigel M. Williams et al.   AMERICAN JOURNAL OF PSYCHIATRY

Autism spectrum disorders—A genetics review

(2011) Judith H Miles   GENETICS IN MEDICINE

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

(2011) Trilochan Sahoo et al.   GENETICS IN MEDICINE

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

(2011) Arivudainambi Ramalingam et al.   JOURNAL OF HUMAN GENETICS

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

(2011) A-M Molin et al.   JOURNAL OF MEDICAL GENETICS

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

(2011) Dan Levy et al.   NEURON

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

AutismKB: an evidence-based knowledgebase of autism genetics

(2011) Li-Ming Xu et al.   NUCLEIC ACIDS RESEARCH

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

(2011) Shao-Qing Kuang et al.   PLoS Genetics

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

(2010) Anna Bremer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay

(2010) Taoyun Ji et al.   JOURNAL OF HUMAN GENETICS

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

(2010) Nigel M Williams et al.   LANCET

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

(2010) Dalila Pinto et al.   NATURE

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

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

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

(2009) I. Cusco 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

Brain-Derived Neurotrophic Factor Enhances the Expression of the Monocarboxylate Transporter 2 through Translational Activation in Mouse Cultured Cortical Neurons

(2009) Camille Robinet et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Phenomic determinants of genomic variation in autism spectrum disorders

(2009) Y Qiao et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Joseph T. Glessner et al.   NATURE

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

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)

(2008) Joanna Bernaciak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

(2008) Susan L. Christian et al.   BIOLOGICAL PSYCHIATRY

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

(2008) Farkhondeh Behjati et al.   European Journal of Medical Genetics

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

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

(2008) Andrew J Sharp et al.   NATURE GENETICS