RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function

(2016) W. Ba et al.   Cell Reports

ROCK1 and 2 differentially regulate actomyosin organization to drive cell and synaptic polarity

(2015) Karen A. Newell-Litwa et al.   JOURNAL OF CELL BIOLOGY

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

Dynamic Control of Excitatory Synapse Development by a Rac1 GEF/GAP Regulatory Complex

(2014) Kyongmi Um et al.   DEVELOPMENTAL CELL

Confirmation and further delineation of the 3q26.33–3q27.2 microdeletion syndrome

(2014) Majed Dasouki et al.   European Journal of Medical Genetics

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

(2014) A. C. Lionel et al.   HUMAN MOLECULAR GENETICS

The X-linked Mental Retardation Protein OPHN1 Interacts with Homer1b/c to Control Spine Endocytic Zone Positioning and Expression of Synaptic Potentiation

(2014) A. Nakano-Kobayashi et al.   JOURNAL OF NEUROSCIENCE

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

(2014) Wilson Wai Chong et al.   Molecular Cytogenetics

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

(2013) Christopher S. Poultney et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of candidate intergenic risk loci in autism spectrum disorder

(2013) Susan Walker et al.   BMC GENOMICS

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

(2013) Agatino Battaglia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

(2013) Lam S. Nguyen et al.   HUMAN MOLECULAR GENETICS

ARHGDIA: a novel gene implicated in nephrotic syndrome

(2013) Indra Rani Gupta et al.   JOURNAL OF MEDICAL GENETICS

Stage-Specific Functions of the Small Rho GTPases Cdc42 and Rac1 for Adult Hippocampal Neurogenesis

(2013) K. C. Vadodaria et al.   JOURNAL OF NEUROSCIENCE

The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization

(2012) Maria Tzetis et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

(2012) Svetlana A. Yatsenko et al.   HUMAN GENETICS

Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

(2012) Allen N. Lamb et al.   HUMAN MUTATION

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

(2012) Ivan Y Iourov et al.   Molecular Cytogenetics

A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

(2011) Yasemin Soysal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel X-linked disorder with developmental delay and autistic features

(2011) Namik Kaya et al.   ANNALS OF NEUROLOGY

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

(2011) Patricia B.S. Celestino-Soper et al.   HUMAN MOLECULAR GENETICS

Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses

(2011) S. K. Tyagarajan et al.   JOURNAL OF CELL SCIENCE

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

(2011) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

Essential Role for Vav Guanine Nucleotide Exchange Factors in Brain-Derived Neurotrophic Factor-Induced Dendritic Spine Growth and Synapse Plasticity

(2011) C. F. Hale et al.   JOURNAL OF NEUROSCIENCE

 -Pix Modulates Actin-Mediated Recruitment of Synaptic Vesicles to Synapses

(2011) Y. Sun et al.   JOURNAL OF NEUROSCIENCE

The 'invisible hand': regulation of RHO GTPases by RHOGDIs

(2011) Rafael Garcia-Mata et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy 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

Myosin IIB Activity and Phosphorylation Status Determines Dendritic Spine and Post-Synaptic Density Morphology

(2011) Jennifer L. Hodges et al.   PLoS One

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

PH-Domain-driven targeting of collybistin but not Cdc42 activation is required for synaptic gephyrin clustering

(2010) Suneel Reddy-Alla et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Long-Term Potentiation-Dependent Spine Enlargement Requires Synaptic Ca2+-Permeable AMPA Receptors Recruited by CaM-Kinase I

(2010) D. A. Fortin et al.   JOURNAL OF NEUROSCIENCE

Balanced Vav2 GEF activity regulates neurite outgrowth and branching in vitro and in vivo

(2010) Myung-soon Moon et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

(2010) Dalila Pinto et al.   NATURE

Cell adhesion: integrating cytoskeletal dynamics and cellular tension

(2010) J. Thomas Parsons et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Defining mechanisms of actin polymerization and depolymerization during dendritic spine morphogenesis

(2009) Pirta Hotulainen et al.   JOURNAL OF CELL BIOLOGY

Different Rho GTPase–dependent signaling pathways initiate sequential steps in the consolidation of long-term potentiation

(2009) Christopher S. Rex et al.   JOURNAL OF CELL BIOLOGY

Molecular Architecture of Synaptic Actin Cytoskeleton in Hippocampal Neurons Reveals a Mechanism of Dendritic Spine Morphogenesis

(2009) Farida Korobova et al.   MOLECULAR BIOLOGY OF THE CELL

A genetically encoded photoactivatable Rac controls the motility of living cells

(2009) Yi I. Wu et al.   NATURE

Regulation of dendritic spine morphology by an NMDA receptor-associated Rho GTPase-activating protein, p250GAP

(2008) Takanobu Nakazawa et al.   JOURNAL OF NEUROCHEMISTRY

Mammalian Rho GTPases: new insights into their functions from in vivo studies

(2008) Sarah J. Heasman et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY