A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome

SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

(2013) Catalina Betancur et al.   Molecular Autism

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

(2013) Ozlem Bozdagi et al.   Molecular Autism

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

(2013) Latha Soorya et al.   Molecular Autism

Differences in white matter reflect atypical developmental trajectory in autism: A Tract-based Spatial Statistics study

(2012) Reyhaneh Bakhtiari et al.   NeuroImage-Clinical

Structural Neural Phenotype of Autism: Preliminary Evidence from a Diffusion Tensor Imaging Study Using Tract-Based Spatial Statistics

(2011) R.J. Jou et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Defects in translational regulation contributing to human cognitive and behavioral disease

(2011) JC Darnell   CURRENT OPINION IN GENETICS & DEVELOPMENT

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome

(2009) Augusto Pasini et al.   BRAIN & DEVELOPMENT

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial

(2008) H Schmidt et al.   JOURNAL OF MEDICAL GENETICS

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

(2008) A. Philippe et al.   PEDIATRICS