Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

Ataxia and myoclonic epilepsy due to a heterozygous new mutation inKCNA2: proposal for a new channelopathy

(2015) S.D.J. Pena et al.   CLINICAL GENETICS

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

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

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism

(2014) Henry J. Mroczkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy number variation plays an important role in clinical epilepsy

(2014) Heather Olson et al.   ANNALS OF NEUROLOGY

Pamheterozygous mice reveal essential role for Cu in amygdalar behavioral and synaptic function

(2014) Eric D. Gaier et al.   Annals of the New York Academy of Sciences

The Genetics of Microdeletion and Microduplication Syndromes: An Update

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

Familial risk of epilepsy: a population-based study

(2014) Anna L. Peljto et al.   BRAIN

Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene

(2014) Valentina La Cognata et al.   CURRENT GENOMICS

Severe infantile epileptic encephalopathy due to mutations inPLCB1: expansion of the genotypic and phenotypic disease spectrum

(2014) Adeline Ngoh et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Nicotinic acetylcholine receptors in human genetic disease

(2014) Christian P. Schaaf   GENETICS IN MEDICINE

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

(2014) Eva M. Reinthaler et al.   HUMAN MOLECULAR GENETICS

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

(2014) Nicholas J. Cooper et al.   HUMAN MOLECULAR GENETICS

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

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

(2014) Bradley P Coe et al.   NATURE GENETICS

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

(2014) Mohammed Uddin et al.   NATURE GENETICS

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

Beyond the single nucleotide variant in epilepsy genetics

(2014) Ingrid E. Scheffer et al.   Nature Reviews Neurology

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

(2014) Borislav Dejanovic et al.   NEUROBIOLOGY OF DISEASE

Genetics of epilepsy: The testimony of twins in the molecular era

(2014) L. Vadlamudi et al.   NEUROLOGY

Adaptive changes in serotonin metabolism preserve normal behavior in mice with reduced TPH2 activity

(2014) Valentina Mosienko et al.   NEUROPHARMACOLOGY

ADAR2 induces reproducible changes in sequence and abundance of mature microRNAs in the mouse brain

(2014) Cornelia Vesely et al.   NUCLEIC ACIDS RESEARCH

MACROD2 gene associated with autistic-like traits in a general population sample

(2014) Rachel M. Jones et al.   PSYCHIATRIC GENETICS

Erratum: The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines

(2014) M Pathania et al.   Translational Psychiatry

Transmission Disequilibrium of Small CNVs in Simplex Autism

(2013) Niklas Krumm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Investigation ofNRXN1deletions: Clinical and molecular characterization

(2013) Mindy Preston Dabell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion 16p13.11 uncoversNDE1mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

(2013) Alex R. Paciorkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and clinical characterization of 25 individuals with exonic deletions ofNRXN1and comprehensive review of the literature

(2013) Frédérique Béna et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Common obesity risk alleles in childhood attention-deficit/hyperactivity disorder

(2013) Özgür Albayrak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Microdeletion syndromes

(2013) Gemma L Carvill et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Pediatric epilepsy genetics

(2013) Massimo Pandolfo   CURRENT OPINION IN NEUROLOGY

Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy

(2013) Dennis Lal et al.   EPILEPSIA

Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

(2013) Rikke S. Møller et al.   EPILEPSIA

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes includingGRIN2AandPRRT2

(2013) Sarra Dimassi et al.   EPILEPSIA

Structural genomic variation in childhood epilepsies with complex phenotypes

(2013) Ingo Helbig et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PRRT2 mutations: exploring the phenotypical boundaries

(2013) T. Djemie et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

(2013) S. A. Mullen et al.   NEUROLOGY

Epilepsy and microRNA

(2013) E.M. Jimenez-Mateos et al.   NEUROSCIENCE

Ohnologs are overrepresented in pathogenic copy number mutations

(2013) A. McLysaght et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus

(2013) Patrick Sleiman et al.   Scientific Reports

Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

(2013) Wei-Wei Zhao   Molecular Cytogenetics

Discovery and replication of gene influences on brain structure using LASSO regression

(2013) Omid Kohannim   Frontiers in Neuroscience

A genetic model for neurodevelopmental disease

(2012) Bradley P Coe et al.   CURRENT OPINION IN NEUROBIOLOGY

Kv1.1 and Kv1.2: Similar channels, different seizure models

(2012) Carol A. Robbins et al.   EPILEPSIA

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

(2012) Elise Boudry-Labis et al.   European Journal of Medical Genetics

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

(2012) et al.   HUMAN MOLECULAR GENETICS

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

(2012) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Deletion of PLCB1 gene in schizophrenia-affected patients

(2012) Vincenza Rita Lo Vasco et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

Deleterious GRM1 Mutations in Schizophrenia

(2012) Mohammed Akli Ayoub et al.   PLoS One

Gene-Based Analysis of Regionally Enriched Cortical Genes in GWAS Data Sets of Cognitive Traits and Psychiatric Disorders

(2012) Kari M. Ersland et al.   PLoS One

Copy number variations in neurodevelopmental disorders

(2012) Hannah M. Grayton et al.   PROGRESS IN NEUROBIOLOGY

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome

(2011) Angela Scheuerle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Clinical Significance of Rare Copy Number Variations in Epilepsy

(2011) Pasquale Striano   ARCHIVES OF NEUROLOGY

The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome

(2011) Kunio Miyake et al.   BMC NEUROSCIENCE

Epilepsy genetics—past, present, and future

(2011) Annapurna Poduri et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

(2011) Jillian P. Casey et al.   HUMAN GENETICS

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

(2011) M. H. Willemsen et al.   JOURNAL OF MEDICAL GENETICS

A Living Fossil in the Genome of a Living Fossil: Harbinger Transposons in the Coelacanth Genome

(2011) J. J. Smith et al.   MOLECULAR BIOLOGY AND EVOLUTION

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

(2011) Josephine Elia et al.   NATURE GENETICS

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Accuracy of CNV Detection from GWAS Data

(2011) Dandan Zhang et al.   PLoS One

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

(2011) A. C. Lionel et al.   Science Translational Medicine

Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology

(2011) Elizabeth J. Rossin et al.   PLoS Genetics

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

(2010) Manju A. Kurian et al.   BRAIN

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

(2010) MT Carter et al.   CLINICAL GENETICS

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Cohort Profile: The Study of Health in Pomerania

(2010) H. Volzke et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Axon initial segment dysfunction in epilepsy

(2010) Verena C. Wimmer et al.   JOURNAL OF PHYSIOLOGY-LONDON

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

(2010) K-P Lesch et al.   MOLECULAR PSYCHIATRY

The expression of non-clustered protocadherins in adult rat hippocampal formation and the connecting brain regions

(2010) S.Y. Kim et al.   NEUROSCIENCE

Hotspots of Large Rare Deletions in the Human Genome

(2010) W. Edward C. Bradley et al.   PLoS One

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for genetic association of RORB with bipolar disorder

(2009) Casey L McGrath et al.   BMC Psychiatry

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

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

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

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

(2009) Joseph T. Glessner et al.   NATURE

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

PLC-β1 knockout mice as a model of disrupted cortical development and plasticity: Behavioral endophenotypes and dysregulation of RGS4 gene expression

(2008) Caitlin E. McOmish et al.   HIPPOCAMPUS

Cadherin-6 gene regulatory patterns in the postnatal mouse brain

(2008) Yukiko U. Inoue et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS