Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

TAOK2 Kinase Mediates PSD95 Stability and Dendritic Spine Maturation through Septin7 Phosphorylation

(2017) Smita Yadav et al.   NEURON

Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

(2017) Hala Harony-Nicolas et al.   eLife

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

(2016) Kyle J. Steinman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inositol-1,4,5-trisphosphate-3-kinase-A controls morphology of hippocampal dendritic spines

(2016) Jan-Dietrich Köster et al.   CELLULAR SIGNALLING

From Shortage to Surge: A Developmental Switch in Hippocampal–Prefrontal Coupling in a Gene–Environment Model of Neuropsychiatric Disorders

(2016) Henrike Hartung et al.   CEREBRAL CORTEX

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications

(2016) Yi Shin Chang et al.   HUMAN BRAIN MAPPING

Thalamic and Entorhinal Network Activity Differently Modulates the Functional Development of Prefrontal–Hippocampal Interactions

(2016) Henrike Hartung et al.   JOURNAL OF NEUROSCIENCE

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

(2016) M C Marchetto et al.   MOLECULAR PSYCHIATRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub

(2016) Katherine D. Blizinsky et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

(2016) Michael Bidinosti et al.   SCIENCE

DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants

(2016) Vickie Kwan et al.   Cell Reports

Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.

(2015) James Dachtler et al.   BEHAVIORAL NEUROSCIENCE

Inhibition of Group I Metabotropic Glutamate Receptors Reverses Autistic-Like Phenotypes Caused by Deficiency of the Translation Repressor eIF4E Binding Protein 2

(2015) A. Aguilar-Valles et al.   JOURNAL OF NEUROSCIENCE

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

(2015) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

Projections from neocortex mediate top-down control of memory retrieval

(2015) Priyamvada Rajasethupathy et al.   NATURE

Hippocampal–prefrontal input supports spatial encoding in working memory

(2015) Timothy Spellman et al.   NATURE

Treatment during a vulnerable developmental period rescues a genetic epilepsy

(2015) Stephan Lawrence Marguet et al.   NATURE MEDICINE

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases

(2015) Guan Ning Lin et al.   NEURON

JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse

(2015) Jamee M. Berg et al.   NEURON

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

Correlation of oxygenation and perfusion sensitive MRI with invasive micro probe measurements in healthy mice brain

(2015) Jan Sedlacik et al.   Zeitschrift fur Medizinische Physik

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

(2014) Isabel Filges et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning

(2014) Thomas C. Jaramillo et al.   Autism Research

A new tool for the quantitative analysis of dendritic filopodial motility

(2014) Krisztián Tárnok et al.   CYTOMETRY PART A

Aberrant White Matter Microstructure in Children with 16p11.2 Deletions

(2014) J. P. Owen et al.   JOURNAL OF NEUROSCIENCE

Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers

(2014) A. Y. Qureshi et al.   JOURNAL OF NEUROSCIENCE

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

(2014) A Oguro-Ando et al.   MOLECULAR PSYCHIATRY

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

(2014) A M Maillard et al.   MOLECULAR PSYCHIATRY

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity

(2014) J Ellegood et al.   MOLECULAR PSYCHIATRY

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

MST3 Kinase Phosphorylates TAO1/2 to Enable Myosin Va Function in Promoting Spine Synapse Development

(2014) Sila K. Ultanir et al.   NEURON

Rapid Golgi Analysis Method for Efficient and Unbiased Classification of Dendritic Spines

(2014) W. Christopher Risher et al.   PLoS One

Unsupervised classification of neocortical activity patterns in neonatal and pre-juvenile rodents

(2014) Nicole B. Cichon et al.   Frontiers in Neural Circuits

Behavioral Abnormalities and Circuit Defects in the Basal Ganglia of a Mouse Model of 16p11.2 Deletion Syndrome

(2014) Thomas Portmann et al.   Cell Reports

Pharmacogenetic Inhibition of eIF4E-Dependent Mmp9 mRNA Translation Reverses Fragile X Syndrome-like Phenotypes

(2014) Christos G. Gkogkas et al.   Cell Reports

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spatial memory tasks in rodents: what do they model?

(2013) Fabio Morellini   CELL AND TISSUE RESEARCH

Mice Create What-Where-When Hippocampus-Dependent Memories of Unique Experiences

(2013) L. Fellini et al.   JOURNAL OF NEUROSCIENCE

Distinct Pathways for Rule-Based Retrieval and Spatial Mapping of Memory Representations in Hippocampal Neurons

(2013) R. Navawongse et al.   JOURNAL OF NEUROSCIENCE

Reversible, irreversible and effective transverse relaxation rates in normal aging brain at 3T

(2013) J. Sedlacik et al.   NEUROIMAGE

Chopped and diced: Dicer1 deletion generates myeloid dysplasia

(2012) D. L. Barber   BLOOD

Elevated T2-values in MRI of stroke patients shortly after symptom onset do not predict irreversible tissue infarction

(2012) S. Siemonsen et al.   BRAIN

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

(2012) James P. Clement et al.   CELL

Taok2controls behavioral response to ethanol in mice

(2012) D. Kapfhamer et al.   GENES BRAIN AND BEHAVIOR

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

Common variant at 16p11.2 conferring risk of psychosis

(2012) S Steinberg et al.   MOLECULAR PSYCHIATRY

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

FMRP targets distinct mRNA sequence elements to regulate protein expression

(2012) Manuel Ascano et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex

(2012) Froylan Calderon de Anda et al.   NATURE NEUROSCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Coupled Oscillations Mediate Directed Interactions between Prefrontal Cortex and Hippocampus of the Neonatal Rat

(2011) Marco D. Brockmann et al.   NEURON

Single Units in the Medial Prefrontal Cortex with Anxiety-Related Firing Patterns Are Preferentially Influenced by Ventral Hippocampal Activity

(2011) Avishek Adhikari et al.   NEURON

Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations

(2011) Marina Konyukh et al.   PLoS One

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

(2011) G. Horev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mouse model of Timothy syndrome recapitulates triad of autistic traits

(2011) P. L. Bader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

(2011) M. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice

(2011) S. E. P. Smith et al.   Science Translational Medicine

Lifeact mice for studying F-actin dynamics

(2010) Julia Riedl et al.   NATURE METHODS

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

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

Structural Comparison of Human Mammalian Ste20-Like Kinases

(2010) Christopher J. Record et al.   PLoS One

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Mouse neurexin-1  deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments

(2009) M. R. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biosignaling of mammalian Ste20-related kinases

(2008) Pin Ling et al.   CELLULAR SIGNALLING

The PAR-6 Polarity Protein Regulates Dendritic Spine Morphogenesis through p190 RhoGAP and the Rho GTPase

(2008) Huaye Zhang et al.   DEVELOPMENTAL CELL

Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1

(2008) A. Y. Hung et al.   JOURNAL OF NEUROSCIENCE

Lifeact: a versatile marker to visualize F-actin

(2008) Julia Riedl et al.   NATURE METHODS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

(2008) S. Jamain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA