Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

(2016) Elisabeth E. Mlynarski et al.   HUMAN GENETICS

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

(2015) Elisabeth E. Mlynarski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Copy Number Variations Burden on miRNA Genes Reveals Layers of Complexities Involved in the Regulation of Pathways and Phenotypic Expression

(2014) Avinash M. Veerappa et al.   PLoS One

Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

(2014) Chantal Sellier et al.   PLoS One

Schizophrenia two-hit hypothesis in velo-cardio facial syndrome

(2013) Hywel J. Williams et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome

(2013) M. Teresa de la Morena et al.   CLINICAL IMMUNOLOGY

Reduced Adult Hippocampal Neurogenesis and Working Memory Deficits in the Dgcr8-Deficient Mouse Model of 22q11.2 Deletion-Associated Schizophrenia Can Be Rescued by IGF2

(2013) Y. Ouchi et al.   JOURNAL OF NEUROSCIENCE

Insights on the Functional Impact of MicroRNAs Present in Autism-Associated Copy Number Variants

(2013) Varadarajan Vaishnavi et al.   PLoS One

Copy number variation of microRNA genes in the human genome

(2011) Malgorzata Marcinkowska et al.   BMC GENOMICS

miRWalk – Database: Prediction of possible miRNA binding sites by “walking” the genes of three genomes

(2011) Harsh Dweep et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex

(2011) Claude M Schofield et al.   Neural Development

Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex

(2011) K. Fenelon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: Patterning, proliferation, and mitochondrial functions of 22q11 genes

(2010) D.W. Meechan et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations

(2010) Christian Vogler et al.   PLoS One

Loss of Cardiac microRNA-Mediated Regulation Leads to Dilated Cardiomyopathy and Heart Failure

(2009) Prakash K. Rao et al.   CIRCULATION RESEARCH

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH

(2009) D.C. Bittel et al.   CYTOGENETIC AND GENOME RESEARCH

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

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

(2008) Kimberly L Stark et al.   NATURE GENETICS