25 results on '"Sebat, Jonathan"'
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2. Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes
3. Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
4. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
5. A framework for the investigation of rare genetic disorders in neuropsychiatry
6. Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
7. Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
8. A framework for the investigation of rare genetic disorders in neuropsychiatry
9. Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling
10. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
11. Autism risk in offspring can be assessed through quantification of male sperm mosaicism
12. Common DNA sequence variation influences 3-dimensional conformation of the human genome
13. Ranking of non-coding pathogenic variants and putative essential regions of the human genome
14. A framework for the investigation of rare genetic disorders in neuropsychiatry
15. Multi-platform discovery of haplotype-resolved structural variation in human genomes
16. Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells
17. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
18. forestSV: structural variant discovery through statistical learning
19. Fish heads and human disease
20. Erratum: Modelling schizophrenia using human induced pluripotent stem cells
21. Erratum: Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
22. Modelling schizophrenia using human induced pluripotent stem cells
23. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
24. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
25. Major changes in our DNA lead to major changes in our thinking
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