Loss-of-function mutation inRUSC2causes intellectual disability and secondary microcephaly

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

(2016) Hanan E. Shamseldin et al.   HUMAN GENETICS

Genetic studies in intellectual disability and related disorders

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

RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions

(2014) Patrizia D’Adamo et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

(2008) Lucien Corbeel et al.   EUROPEAN JOURNAL OF PEDIATRICS