Found: 26
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Linking Autism Risk Genes to Disruption of Cortical Development.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 11, p. 2500, doi. 10.3390/cells9112500
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- Publication type:
- Article
Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS).
- Published in:
- 2020
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- Publication type:
- journal article
Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41730-8
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- Publication type:
- Article
How rare and common risk variation jointly affect liability for autism spectrum disorder.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00466-2
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- Publication type:
- Article
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00465-3
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- Publication type:
- Article
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00431-z
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- Publication type:
- Article
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <italic>SHANK3</italic> point mutations.
- Published in:
- Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0205-9
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- Publication type:
- Article
Prospective investigation of FOXP1 syndrome.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0172-6
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- Publication type:
- Article
Recent Advances in the Genetics of Autism Spectrum Disorder.
- Published in:
- Current Neurology & Neuroscience Reports, 2015, v. 15, n. 6, p. 1, doi. 10.1007/s11910-015-0553-1
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- Publication type:
- Article
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6064, doi. 10.3390/ijms22116064
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- Publication type:
- Article
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.
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- Genes, 2021, v. 12, n. 3, p. 351, doi. 10.3390/genes12030351
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- Publication type:
- Article
Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 12, p. 1, doi. 10.1371/journal.pgen.1004729
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- Publication type:
- Article
Integrated Model of <i>De Novo</i> and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003671
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- Publication type:
- Article
Identification of rare de novo epigenetic variations in congenital disorders.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04540-x
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- Publication type:
- Article
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 2, p. 290, doi. 10.1002/ajmg.b.32406
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- Publication type:
- Article
FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 25, p. 9402, doi. 10.1523/JNEUROSCI.4800-14.2015
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- Publication type:
- Article
Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats.
- Published in:
- Cerebral Cortex, 2019, v. 29, n. 5, p. 2228, doi. 10.1093/cercor/bhz029
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- Publication type:
- Article
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders.
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- Journal of Neurodevelopmental Disorders, 2011, v. 3, n. 3, p. 257, doi. 10.1007/s11689-011-9087-2
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- Publication type:
- Article
Synaptic, transcriptional and chromatin genes disrupted in autism.
- Published in:
- Nature, 2014, v. 515, n. 7526, p. 209, doi. 10.1038/nature13772
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- Publication type:
- Article
Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles†.
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- Nucleic Acids Research, 2011, v. 39, n. 14, p. 6172, doi. 10.1093/nar/gkr100
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- Publication type:
- Article
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability.
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- Nature Neuroscience, 2007, v. 10, n. 5, p. 578, doi. 10.1038/nn1893
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- Publication type:
- Article
Genetics and genomics of autism spectrum disorder: embracing complexity.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. R24, doi. 10.1093/hmg/ddv273
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- Publication type:
- Article
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4006, doi. 10.1093/hmg/ddv138
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- Publication type:
- Article
Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1712, doi. 10.1002/ajmg.a.62157
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- Publication type:
- Article
Phelan McDermid Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 14, p. 1861, doi. 10.1177/0883073815600872
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- Publication type:
- Article
Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00212
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- Publication type:
- Article