Mutations specific to the Rac-GEF domain ofTRIOcause intellectual disability and microcephaly

Trio gene is required for mouse learning ability

(2015) Wen Zong et al.   BRAIN RESEARCH

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing

(2015) R.J. Pengelly et al.   CLINICAL GENETICS

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

(2015) Wei Ba et al.   HUMAN MOLECULAR GENETICS

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

(2014) Jeffrey van Haren et al.   CURRENT BIOLOGY

Identification of a mitotic Rac-GEF, Trio, that counteracts MgcRacGAP function during cytokinesis

(2014) Aude Cannet et al.   MOLECULAR BIOLOGY OF THE CELL

Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

(2014) Marine Barbelanne et al.   Biomed Research International

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

KCNJ2mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia

(2013) Makarand Deo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A SNP profiling panel for sample tracking in whole-exome sequencing studies

(2013) Reuben J Pengelly et al.   Genome Medicine

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Trio Is a Key Guanine Nucleotide Exchange Factor Coordinating Regulation of the Migration and Morphogenesis of Granule Cells in the Developing Cerebellum

(2010) Ya-Jing Peng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Growth Cone Cytoskeleton in Axon Outgrowth and Guidance

(2010) E. W. Dent et al.   Cold Spring Harbor Perspectives in Biology

Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?

(2009) Catherine L. Mercer et al.   CLINICAL DYSMORPHOLOGY

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

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