Phelan McDermid Syndrome

Metabotropic glutamate receptor 5 as drug target for Fragile X syndrome

(2015) Sebastian H Scharf et al.   CURRENT OPINION IN PHARMACOLOGY

Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials

(2015) Sien Braat et al.   NEUROPHARMACOLOGY

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

(2015) Daniela M Cochoy et al.   Molecular Autism

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

(2014) Vittoria Disciglio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Absence of strong strain effects in behavioral analyses of Shank3-deficient mice

(2014) E. Drapeau et al.   Disease Models & Mechanisms

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

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

Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: Developmental aspects and effects of social context

(2014) A. Özge Sungur et al.   JOURNAL OF NEUROSCIENCE METHODS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

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

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

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

(2014) Alexander Kolevzon et al.   Molecular Autism

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice

(2014) Xiaoming Wang et al.   Molecular Autism

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

(2013) Christopher S. Poultney et al.   AMERICAN JOURNAL OF HUMAN GENETICS

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay and physical features in Phelan–McDermid syndrome

(2013) Sara M. Sarasua et al.   GENETICS IN MEDICINE

SHANK3Gene Mutations Associated with Autism Facilitate Ligand Binding to the Shank3 Ankyrin Repeat Region

(2013) Marie Germaine Mameza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission

(2013) M. Kouser et al.   JOURNAL OF NEUROSCIENCE

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

(2013) Kihoon Han et al.   NATURE

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

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

(2012) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability

(2012) Yan Kou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

mTOR Inhibitors in Tuberous Sclerosis Complex

(2012) Paolo Curatolo et al.   Current Neuropharmacology

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

Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling

(2012) M. H. Arons et al.   JOURNAL OF NEUROSCIENCE

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

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

(2012) Xiaohong Gong et al.   PLoS One

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

(2012) Willem M.A. Verhoeven et al.   Neuropsychiatric Disease and Treatment

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

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

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

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

(2011) Andreas M Grabrucker et al.   EMBO JOURNAL

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

(2011) Xiaoming Wang 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

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism

(2011) C M Durand et al.   MOLECULAR PSYCHIATRY

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

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

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

Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome

(2010) Dilja D. Krueger et al.   Annual Review of Medicine

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

Conserved role of intragenic DNA methylation in regulating alternative promoters

(2010) Alika K. Maunakea et al.   NATURE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Mechanism-based approaches to treating fragile X

(2010) Gül Dölen et al.   PHARMACOLOGY & THERAPEUTICS

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Systematic reviews of psychosocial interventions for autism: an umbrella review

(2009) JENNIFER KREBS SEIDA et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

(2009) A. Delahaye et al.   European Journal of Medical Genetics

Genetics and neuropsychiatric disorders: Treatment during adulthood

(2009) Dan Ehninger et al.   NATURE MEDICINE

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

(2008) Heather L Wilson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

(2008) Maria Clara Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1

(2008) A. Y. Hung et al.   JOURNAL OF NEUROSCIENCE

Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome

(2008) Gül Dölen et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

(2008) A. Philippe et al.   PEDIATRICS