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A genome-wide association study of autism reveals a common novel risk locus at 5p14.1Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Genetic modifiers of MeCP2 function in Drosophila.Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibilityhVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells.Evidence of novel fine-scale structural variation at autism spectrum disorder candidate lociEvaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathwaysThe expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2
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description
researcher
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wetenschapper
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հետազոտող
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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Holly N Cukier
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25031307800
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0000-0003-3459-7792