RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

(2014) Julien Thevenon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

Clinical Exome Sequencing

(2014) Christopher M. Gomez et al.   JAMA Neurology

The emerging roles of ribosome biogenesis in craniofacial development

(2014) Adam P. Ross et al.   Frontiers in Physiology

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

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

(2013) Christopher T. Gordon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder

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

An investigation of ribosomal protein L10 gene in autism spectrum disorders

(2009) Xiaohong Gong et al.   BMC Medical Genetics

RPS19 mutations in patients with Diamond-Blackfan anemia

(2008) Maria Francesca Campagnoli et al.   HUMAN MUTATION