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

Complex autism spectrum disorder in a patient with a 17q12 microduplication

(2012) Tracy Brandt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion

(2012) Ksenija Vucurovic et al.   European Journal of Medical Genetics

High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

(2012) Xiaohong Gong et al.   PLoS One

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

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

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

(2011) Y. Sakai et al.   Science Translational Medicine

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

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

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

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

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

(2010) Anna Bremer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

(2010) Chih-Ping Chen et al.   European Journal of Medical Genetics

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

(2010) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Novel de novo SHANK3 mutation in autistic patients

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

Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association

(2008) Maria Tufano et al.   EUROPEAN JOURNAL OF PEDIATRICS

Deletion 22q13.3 syndrome

(2008) Mary C Phelan   Orphanet Journal of Rare Diseases

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

(2008) A. Philippe et al.   PEDIATRICS