Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

(2015) Erik Boot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

(2015) William Warnica et al.   BIOLOGICAL PSYCHIATRY

Practical guidelines for managing adults with 22q11.2 deletion syndrome

(2015) Wai Lun Alan Fung et al.   GENETICS IN MEDICINE

The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis.

(2015) Olga Catalina-Rodriguez et al.   Oncotarget

Systematic Analyses of rpm-1 Suppressors Reveal Roles for ESS-2 in mRNA Splicing in Caenorhabditis elegans

(2014) K. Noma et al.   GENETICS

Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis

(2014) Christopher H. Chandler et al.   GENETICS

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

(2014) Chantal Sellier et al.   PLoS One

Quickly Finding Orthologs as Reciprocal Best Hits with BLAT, LAST, and UBLAST: How Much Do We Miss?

(2014) Natalie Ward et al.   PLoS One

Drosha-independent DGCR8/Pasha pathway regulates neuronal morphogenesis

(2014) A. Luhur et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

The Evolutionarily Conserved Mediator Subunit MDT-15/MED15 Links Protective Innate Immune Responses and Xenobiotic Detoxification

(2014) Read Pukkila-Worley et al.   PLoS Pathogens

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

(2014) Daniele Merico et al.   Frontiers in Neurology

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

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

Keeping mitochondria in shape: a matter of life and death

(2013) Luca Scorrano   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders

(2013) N Hiroi et al.   MOLECULAR PSYCHIATRY

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

miRBase: annotating high confidence microRNAs using deep sequencing data

(2013) Ana Kozomara et al.   NUCLEIC ACIDS RESEARCH

Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila

(2013) Merel A. W. Oortveld et al.   PLoS Genetics

Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

(2013) Nancy J. Butcher et al.   JAMA Neurology

MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review

(2013) Andreas J. Forstner et al.   Frontiers in Molecular Neuroscience

The Characterization of the Caenorhabditis elegans Mitochondrial Thioredoxin System Uncovers an Unexpected Protective Role of Thioredoxin Reductase 2 in β-Amyloid Peptide Toxicity

(2012) Briseida Cacho-Valadez et al.   ANTIOXIDANTS & REDOX SIGNALING

Analysis of Copy Number Variations in Brain DNA from Patients with Schizophrenia and Other Psychiatric Disorders

(2012) Tianzhang Ye et al.   BIOLOGICAL PSYCHIATRY

Cardiac-Specific Inducible and Conditional Gene Targeting in Mice

(2012) Thomas Doetschman et al.   CIRCULATION RESEARCH

Zebrafish in the Study of Early Cardiac Development

(2012) Jiandong Liu et al.   CIRCULATION RESEARCH

Manipulation of gene expression in zebrafish using caged circular morpholino oligomers

(2012) Yuan Wang et al.   NUCLEIC ACIDS RESEARCH

Functional Gene-Expression Analysis Shows Involvement of Schizophrenia-Relevant Pathways in Patients with 22q11 Deletion Syndrome

(2012) Nico J. M. van Beveren et al.   PLoS One

Post-developmental microRNA expression is required for normal physiology, and regulates aging in parallel to insulin/IGF-1 signaling in C. elegans

(2012) N. J. Lehrbach et al.   RNA

Evolution of testis-specific kinases TSSK1B and TSSK2 in primates

(2012) P. Shang et al.   Andrology

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

(2012) D Chakraborty et al.   Translational Psychiatry

miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome

(2012) Linda M. Brzustowicz et al.   Frontiers in Genetics

Drosophila strategies to study psychiatric disorders

(2011) Bart van Alphen et al.   BRAIN RESEARCH BULLETIN

Zebrafish as a model to study cardiac development and human cardiac disease

(2011) J. Bakkers   CARDIOVASCULAR RESEARCH

Widespread roles of microRNAs during zebrafish development and beyond

(2011) Yuichiro Mishima   DEVELOPMENT GROWTH & DIFFERENTIATION

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy

(2011) Dirk Sibbing et al.   EUROPEAN HEART JOURNAL

Human Disease Models in Drosophila melanogaster and the Role of the Fly in Therapeutic Drug Discovery

(2011) U. B. Pandey et al.   PHARMACOLOGICAL REVIEWS

The Caenorhabditis elegans T-Box Factor MLS-1 Requires Groucho Co-Repressor Interaction for Uterine Muscle Specification

(2011) Raymond R. Miller et al.   PLoS Genetics

MicroRNA Expression and Regulation in Human, Chimpanzee, and Macaque Brains

(2011) Hai Yang Hu et al.   PLoS Genetics

The mouse genetics toolkit: revealing function and mechanism

(2011) Louise van der Weyden et al.   GENOME BIOLOGY

Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging

(2010) Jan Booij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Elevated Prevalence of Generalized Anxiety Disorder in Adults With 22q11.2 Deletion Syndrome

(2010) Wai Lun Alan Fung et al.   AMERICAN JOURNAL OF PSYCHIATRY

High-throughput screening and small animal models, where are we?

(2010) Jean Giacomotto et al.   BRITISH JOURNAL OF PHARMACOLOGY

Analysis of microRNA knockouts in mice

(2010) C. Y. Park et al.   HUMAN MOLECULAR GENETICS

22q11.2 Deletion Syndrome: Are Motor Deficits More Than Expected for IQ Level?

(2010) Nancy J. Roizen et al.   JOURNAL OF PEDIATRICS

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

Establishment of a neuroepithelial barrier by Claudin5a is essential for zebrafish brain ventricular lumen expansion

(2010) J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Motor Profile of Primary School-Age Children with a 22q11.2 Deletion Syndrome (22q11.2DS) and an Age- and IQ-Matched Control Group

(2009) Katrijn Van Aken et al.   CHILD NEUROPSYCHOLOGY

Drosophila melanogaster as a Model Organism of Brain Diseases

(2009) Astrid Jeibmann et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Premature death in adults with 22q11.2 deletion syndrome

(2009) A S Bassett et al.   JOURNAL OF MEDICAL GENETICS

Psychiatric Disorders and Intellectual Functioning Throughout Development in Velocardiofacial (22q11.2 Deletion) Syndrome

(2009) Tamar Green et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Schizophrenia is associated with an increase in cortical microRNA biogenesis

(2009) N J Beveridge et al.   MOLECULAR PSYCHIATRY

Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

(2009) Matthew B. Johnson et al.   NEURON

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

(2008) Beverly S. Emanuel   Developmental Disabilities Research Reviews

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   HUMAN MOLECULAR GENETICS

Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease

(2008) Wai Lun Alan Fung et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes

(2008) T.M. Maynard et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

(2008) Kimberly L Stark et al.   NATURE GENETICS

Modeling Molecular and Cellular Aspects of Human Disease Using the Nematode Caenorhabditis elegans

(2008) Gary A Silverman et al.   PEDIATRIC RESEARCH

Supportive Evidence for Reduced Expression of GNB1L in Schizophrenia

(2008) Hiroki Ishiguro et al.   SCHIZOPHRENIA BULLETIN

Schizophrenia and 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   Current Psychiatry Reports

The Rough Guide to In Silico Function Prediction, or How To Use Sequence and Structure Information To Predict Protein Function

(2008) Marco Punta et al.   PLoS Computational Biology