Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

(2015) Camila Oliveira Freitas Machado et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Lipid Binding Defects and Perturbed Synaptogenic Activity of a Collybistin R290H Mutant That Causes Epilepsy and Intellectual Disability

(2015) Theofilos Papadopoulos et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

(2015) Tejasvi S. Niranjan et al.   PLoS One

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

(2014) M.J. Basehore et al.   CLINICAL GENETICS

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission

(2013) S. Mayer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

(2012) Kyoko Takano et al.   HUMAN MOLECULAR GENETICS

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

(2012) Anita Rauch et al.   LANCET

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

(2011) Gaetan Lesca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

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

Complex Role of Collybistin and Gephyrin in GABAAReceptor Clustering

(2010) Leila Saiepour et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased network excitability and impaired induction of long-term potentiation in the dentate gyrus of collybistin-deficient mice in vivo

(2009) Peter Jedlicka et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Neuroligin 2 Drives Postsynaptic Assembly at Perisomatic Inhibitory Synapses through Gephyrin and Collybistin

(2009) Alexandros Poulopoulos et al.   NEURON

A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation

(2008) Vera M. Kalscheuer et al.   HUMAN MUTATION