Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

Optogenetic Activation of Excitatory Premotor Interneurons Is Sufficient to Generate Coordinated Locomotor Activity in Larval Zebrafish

(2014) E. E. Ljunggren et al.   JOURNAL OF NEUROSCIENCE

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

(2014) Holly N Cukier et al.   Molecular Autism

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders

(2013) Stefanie Grabrucker et al.   BRAIN

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Hindbrain V2a Neurons in the Excitation of Spinal Locomotor Circuits during Zebrafish Swimming

(2013) Yukiko Kimura et al.   CURRENT BIOLOGY

The genetic landscape of autism spectrum disorders

(2013) Rasim O Rosti et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome

(2013) J. Jacob et al.   Disease Models & Mechanisms

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay and physical features in Phelan–McDermid syndrome

(2013) Sara M. Sarasua et al.   GENETICS IN MEDICINE

Distinct phenotypes in zebrafish models of human startle disease

(2013) Lisa R. Ganser et al.   NEUROBIOLOGY OF DISEASE

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Analysis Tool Web Services from the EMBL-EBI

(2013) Hamish McWilliam et al.   NUCLEIC ACIDS RESEARCH

The Genome of the Ctenophore Mnemiopsis leidyi and Its Implications for Cell Type Evolution

(2013) J. F. Ryan et al.   SCIENCE

Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution

(2013) Nir Oksenberg et al.   PLoS Genetics

SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

(2013) Catalina Betancur et al.   Molecular Autism

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

Functional Consequences of Mutations in Postsynaptic Scaffolding Proteins and Relevance to Psychiatric Disorders

(2012) Jonathan T. Ting et al.   Annual Review of Neuroscience

Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses

(2012) James P. Clement et al.   CELL

Consensus Paper: Pathological Role of the Cerebellum in Autism

(2012) S. Hossein Fatemi et al.   CEREBELLUM

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

(2012) Luigi Boccuto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

(2012) Anthony J. Griswold et al.   HUMAN MOLECULAR GENETICS

Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

(2012) Martin H. Berryer et al.   HUMAN MUTATION

Generation of Multiple Classes of V0 Neurons in Zebrafish Spinal Cord: Progenitor Heterogeneity and Temporal Control of Neuronal Diversity

(2012) C. Satou et al.   JOURNAL OF NEUROSCIENCE

Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling

(2012) M. H. Arons et al.   JOURNAL OF NEUROSCIENCE

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Molecular and behavioral changes associated with adult hippocampus-specific SynGAP1 knockout

(2012) M. Muhia et al.   LEARNING & MEMORY

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism

(2012) Raymond J. Kelleher III et al.   PLoS One

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of Autism Spectrum Disorders in a Total Population Sample

(2011) Young Shin Kim et al.   AMERICAN JOURNAL OF PSYCHIATRY

Molecular and synaptic defects in intellectual disability syndromes

(2011) Chiara Verpelli et al.   CURRENT OPINION IN NEUROBIOLOGY

The spatio-temporal expression of ProSAP/shank family members and their interaction partner LAPSER1 during Xenopus laevis development

(2011) Susanne Gessert et al.   DEVELOPMENTAL DYNAMICS

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

(2011) Andreas M Grabrucker et al.   EMBO JOURNAL

A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

(2011) Laura L. Klitten et al.   EPILEPSIA

Disc1 regulates both β-catenin-mediated and noncanonical Wnt signaling during vertebrate embryogenesis

(2011) Gianluca De Rienzo et al.   FASEB JOURNAL

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses

(2011) Chiara Verpelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism

(2011) C M Durand et al.   MOLECULAR PSYCHIATRY

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Common DISC1 Polymorphisms Disrupt Wnt/GSK3β Signaling and Brain Development

(2011) Karun K. Singh et al.   NEURON

Solving the Autism Puzzle a Few Pieces at a Time

(2011) Christian P. Schaaf 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

SHANK3,the Synapse, and Autism

(2011) Martha R. Herbert   NEW ENGLAND JOURNAL OF MEDICINE

Genetic visualization with an improved GCaMP calcium indicator reveals spatiotemporal activation of the spinal motor neurons in zebrafish

(2011) A. Muto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

(2011) Y. Sakai et al.   Science Translational Medicine

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

(2010) Jerzy Wegiel et al.   ACTA NEUROPATHOLOGICA

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

(2010) Ana Cristina V. Krepischi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The backbone of the post-synaptic density originated in a unicellular ancestor of choanoflagellates and metazoans

(2010) Alexandre Alié et al.   BMC EVOLUTIONARY BIOLOGY

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

(2010) Catalina Betancur   BRAIN RESEARCH

Movement, technology and discovery in the zebrafish

(2010) David L McLean et al.   CURRENT OPINION IN NEUROBIOLOGY

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

(2010) Marcella Zollino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP

(2010) Mary Muhia et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

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

(2010) Dalila Pinto et al.   NATURE

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disrupted in Schizophrenia 1 Regulates Neuronal Progenitor Proliferation via Modulation of GSK3β/β-Catenin Signaling

(2009) Yingwei Mao et al.   CELL

DISC1 Partners with GSK3β in Neurogenesis

(2009) Guo-li Ming et al.   CELL

The autism susceptibility gene met regulates zebrafish cerebellar development and facial motor neuron migration

(2009) Gina E. Elsen et al.   DEVELOPMENTAL BIOLOGY

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

(2009) Nadine Gogolla et al.   Journal of Neurodevelopmental Disorders

A genome-wide linkage and association scan reveals novel loci for autism

(2009) Lauren A. Weiss et al.   NATURE

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Controlling morpholino experiments: don't stop making antisense

(2008) J. S. Eisen et al.   DEVELOPMENT