Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family

(2014) Setareh Moghadasi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region

(2014) D L Armstrong et al.   GENES AND IMMUNITY

Considering specific clinical features as evidence of pathogenic copy number variants

(2014) Egle Preiksaitiene et al.   JOURNAL OF APPLIED GENETICS

A new single gene deletion on 2q34:ERBB4is associated with intellectual disability

(2013) Jurate Kasnauskiene et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic architecture of reciprocal CNVs

(2013) Christelle Golzio et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Contactins in the neurobiology of autism

(2013) Amila Zuko et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Array CGH analysis of a cohort of Russian patients with intellectual disability

(2013) Anna A. Kashevarova et al.   GENE

Etiology and prognostic factors of acute liver failure in children

(2013) Sharandeep Kaur et al.   INDIAN PEDIATRICS

Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

(2013) Moneef Shoukier et al.   NEUROPEDIATRICS

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

(2011) Fady M. Mikhail et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

(2011) Emma van Daalen et al.   NEUROGENETICS

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

(2011) Cristina Cuoco et al.   Orphanet Journal of Rare Diseases

Terminal 3p deletions in two families-Correlation between molecular karyotype and phenotype

(2010) Pia Pohjola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Contribution of the neural cell recognition molecule NB-3 to synapse formation between parallel fibers and Purkinje cells in mouse

(2009) Kunie Sakurai et al.   Developmental Neurobiology

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

(2009) Hilde Van Esch et al.   European Journal of Medical Genetics

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

(2009) Bernard Crespi et al.   Evolutionary Applications