Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

(2014) Sara M. Sarasua et al.   HUMAN GENETICS

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

Recent developments in the genetics of autism spectrum disorders

(2013) John D Murdoch et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

SHANK3 as an autism spectrum disorder-associated gene

(2012) Shigeo Uchino et al.   BRAIN & DEVELOPMENT

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

(2012) Luigi Boccuto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders

(2012) Susan E. Swedo et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

(2011) S. M. Sarasua et al.   JOURNAL OF MEDICAL GENETICS

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

Behavioral and Cerebellar Transmission Deficits in Mice Lacking the Autism-Linked Gene Islet Brain-2

(2010) J. Giza et al.   JOURNAL OF NEUROSCIENCE

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

(2008) A. Philippe et al.   PEDIATRICS