Related references
Note: Only part of the references are listed.The Emerging Role of SHANK Genes in Neuropsychiatric Disorders
Audrey Guilmatre et al.
DEVELOPMENTAL NEUROBIOLOGY (2014)
A de novo convergence of autism genetics and molecular neuroscience
Niklas Krumm et al.
TRENDS IN NEUROSCIENCES (2014)
The Genetic Landscapes of Autism Spectrum Disorders
Guillaume Huguet et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 14 (2013)
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
B. Chiliana et al.
CLINICAL GENETICS (2013)
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
Caroline Schluth-Bolard et al.
JOURNAL OF MEDICAL GENETICS (2013)
Progress toward treatments for synaptic defects in autism
Richard Delorme et al.
NATURE MEDICINE (2013)
Modeling Autism by SHANK Gene Mutations in Mice
Yong-hui Jiang et al.
NEURON (2013)
Meta-analysis of incidence of rare events
Peter W. Lane
STATISTICAL METHODS IN MEDICAL RESEARCH (2013)
SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Catalina Betancur et al.
MOLECULAR AUTISM (2013)
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Latha Soorya et al.
MOLECULAR AUTISM (2013)
SHANK1 Deletions in Males with Autism Spectrum Disorder
Daisuke Sato et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology
Simone Berkel et al.
HUMAN MOLECULAR GENETICS (2012)
Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling
Magali H. Arons et al.
JOURNAL OF NEUROSCIENCE (2012)
Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice
Mu Yang et al.
JOURNAL OF NEUROSCIENCE (2012)
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
C. M. Durand et al.
MOLECULAR PSYCHIATRY (2012)
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Hyejung Won et al.
NATURE (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond et al.
PLOS GENETICS (2012)
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Catalina Betancur
BRAIN RESEARCH (2011)
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
Christian P. Schaaf et al.
HUMAN MOLECULAR GENETICS (2011)
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Xiaoming Wang et al.
HUMAN MOLECULAR GENETICS (2011)
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Joao Peca et al.
NATURE (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Stephan J. Sanders et al.
NEURON (2011)
Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking Behavior
Markus Woehr et al.
PLOS ONE (2011)
Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies
Andreas M. Grabrucker et al.
TRENDS IN CELL BIOLOGY (2011)
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
Maria Clara Bonaglia et al.
PLOS GENETICS (2011)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel et al.
NATURE GENETICS (2010)
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
Julie Gauthier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
Roberto Toro et al.
TRENDS IN GENETICS (2010)
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
A. Wischmeijer et al.
MOLECULAR SYNDROMOLOGY (2010)
Novel De Novo SHANK3 Mutation in Autistic Patients
Julie Gauthier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)
Advances in Autism
Daniel H. Geschwind
ANNUAL REVIEW OF MEDICINE (2009)
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner et al.
NATURE (2009)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1
Albert Y. Hung et al.
JOURNAL OF NEUROSCIENCE (2008)
Neuroligins and neurexins link synaptic function to cognitive disease
Thomas C. Sudhof
NATURE (2008)
Contribution of SHANK3 mutations to autism spectrum disorder
Rainald Moessner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari et al.
NATURE GENETICS (2007)
Inclusion of zero total event trials in meta-analyses maintains analytic consistency and incorporates all available data
Jan O. Friedrich et al.
BMC MEDICAL RESEARCH METHODOLOGY (2007)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M. Durand et al.
NATURE GENETICS (2007)
Measuring inconsistency in meta-analyses
JPT Higgins et al.
BMJ-BRITISH MEDICAL JOURNAL (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
The Diagnostic Interview for Social and Communication Disorders: background, inter-rater reliability and clinical use
L Wing et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES (2002)
The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism
C Lord et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2000)
Share Paper
