Although highly penetrant genetic risk factors for autism are individually rare, we can group them together to gain broader understanding of important mechanisms in autism pathophysiology. Our past work includes investigating GxG and modifier effects utilizing diseases caused by genes in the Ras-MAPK signaling pathway (RASopathies) and (relatively) common CNVs such as in the 16p11.2 and 22q11.2 regions. We hope to apply these approaches to potential autism biomarkers such as brain growth (trajectory) in order to understand better whether (and to what extent) known macrocephaly/microcephaly mechanisms contribute to autism.
Past work:
- Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits. external site (opens in a new window)
- Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes. Vysotskiy M, Zhong X, Miller-Fleming TW, Zhou D, Autism Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Cox NJ, Weiss LA. Genome Med. 2021 Oct 29. (PMID: 34715901 external site (opens in a new window) )
- Cellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder. Deshpande A, Yadav S, Dao DQ, Wu ZY, Hokanson KC, Cahill MK, Wiita AP, Jan YN, Ullian EM, Weiss LA. Cell Reports. 2017 Dec 5. (PMID: 29212016 external site (opens in a new window) )
- Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment. Yeh E, Dao DQ, Wu ZY, Kandalam SM, Camacho FM, Tom C, Zhang W, Krencik R, Rauen KA, Ullian EM, Weiss LA. Mol Psychiatry. 2018 Aug. (PMID: 29158583)
- Reverse pathway genetic approach identifies epistasis in autism spectrum disorders. Mitra I, Lavillaureix A, Yeh E, Traglia M, Tsang K, Bearden CE, Rauen KA, Weiss LA. PLoS Genetics. 2017 Jan 11. (PMID: 28076348 external site (opens in a new window) )