TRIOloss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

MicroRNA-137 Controls AMPA-Receptor-Mediated Transmission and mGluR-Dependent LTD

(2015) Nikkie F.M. Olde Loohuis et al.   Cell Reports

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kalirin-9 and Kalirin-12 Play Essential Roles in Dendritic Outgrowth and Branching

(2014) Yan Yan et al.   CEREBRAL CORTEX

Dynamic Microtubules Catalyze Formation of Navigator-TRIO Complexes to Regulate Neurite Extension

(2014) Jeffrey van Haren et al.   CURRENT BIOLOGY

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Miniature Neurotransmission Regulates Drosophila Synaptic Structural Maturation

(2014) Ben Jiwon Choi et al.   NEURON

Differential Labeling of Cell-surface and Internalized Proteins after Antibody Feeding of Live Cultured Neurons

(2014) Nissa L. Carrodus et al.   Jove-Journal of Visualized Experiments

Rho GTPase signaling at the synapse: Implications for intellectual disability

(2013) Wei Ba et al.   EXPERIMENTAL CELL RESEARCH

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

Shank3-Rich2 Interaction Regulates AMPA Receptor Recycling and Synaptic Long-Term Potentiation

(2013) F. Raynaud et al.   JOURNAL OF NEUROSCIENCE

AMPA-silent synapses in brain development and pathology

(2013) Eric Hanse et al.   NATURE REVIEWS NEUROSCIENCE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2012) James P. Clement et al.   CELL

Deciphering the Molecular and Functional Basis of Dbl Family Proteins

(2012) Mamta Jaiswal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Tyrosine Phosphorylation of the Rho Guanine Nucleotide Exchange Factor Trio Regulates Netrin-1/DCC-Mediated Cortical Axon Outgrowth

(2012) J. DeGeer et al.   MOLECULAR AND CELLULAR BIOLOGY

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

The RhoGEF Trio Functions in Sculpting Class Specific Dendrite Morphogenesis in Drosophila Sensory Neurons

(2012) Srividya Chandramouli Iyer et al.   PLoS One

Control of Dendritic Morphogenesis by Trio in Drosophila melanogaster

(2012) Madhuri Shivalkar et al.   PLoS One

Comparative Study of Human and Mouse Postsynaptic Proteomes Finds High Compositional Conservation and Abundance Differences for Key Synaptic Proteins

(2012) Àlex Bayés et al.   PLoS One

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Kalirin Binds the NR2B Subunit of the NMDA Receptor, Altering Its Synaptic Localization and Function

(2011) D. D. Kiraly et al.   JOURNAL OF NEUROSCIENCE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Rapid Synthesis of the X-Linked Mental Retardation Protein OPHN1 Mediates mGluR-Dependent LTD through Interaction with the Endocytic Machinery

(2011) Nael Nadif Kasri et al.   NEURON

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

(2009) N. Nadif Kasri et al.   GENES & DEVELOPMENT

Synaptic AMPA Receptor Plasticity and Behavior

(2009) Helmut W. Kessels et al.   NEURON

Trio Mediates Netrin-1-Induced Rac1 Activation in Axon Outgrowth and Guidance

(2008) A. Briancon-Marjollet et al.   MOLECULAR AND CELLULAR BIOLOGY