A5074195737- Chromosomal and Genetic Variations
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Glycosylation and Glycoproteins Research
- RNA and protein synthesis mechanisms
- Genomics and Chromatin Dynamics
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Science, Research, and Medicine
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Chromatin Remodeling and Cancer
Pennsylvania State University
2017-2021
Abstract As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive complicates disease gene discovery and functional evaluation. Here, we propose a complex interaction model for pathogenicity of the autism-associated 16p11.2 deletion, where CNV genes interact with each other conserved pathways modulate expression phenotype. Using multiple quantitative methods Drosophila RNAi lines, identify range neurodevelopmental phenotypes knockdown...
The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role individual genes, genetic interactions, disrupted biological mechanisms underlying have not been thoroughly characterized. Here, we used quantitative methods to assay Drosophila melanogaster Xenopus laevis models tissue-specific pairwise knockdown 14 homologs...
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly carrier parents. hypothesized the sensitizes genome for disease, while “second-hits” in genetic background modulate phenotypic trajectory. To test this model, we examined how defects conferred by knockdown individual homologs are modulated simultaneous...
While rare pathogenic copy-number variants (CNVs) are associated with both neuronal and non-neuronal phenotypes, functional studies evaluating these regions have focused on the molecular basis of defects. We report a systematic analysis defects for homologs 59 genes within ten CNVs 20 neurodevelopmental in Drosophila melanogaster. Using wing-specific knockdown 136 RNA interference lines, we identified qualitative quantitative phenotypes 72/79 homologs, including 21 lines severe wing six...
ABSTRACT The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role individual genes, genetic interactions, disrupted biological mechanisms underlying have not been thoroughly characterized. Here, we used quantitative methods to assay Drosophila melanogaster Xenopus laevis models tissue-specific pairwise knockdown 14...
ABSTRACT While rare pathogenic copy-number variants (CNVs) are associated with both neuronal and non-neuronal phenotypes, functional studies evaluating these regions have focused on the molecular basis of defects. We report a systematic analysis defects for homologs 59 genes within ten CNVs 20 neurodevelopmental in Drosophila melanogaster . Using wing-specific knockdown 136 RNA interference lines, we identified qualitative quantitative phenotypes 72/79 homologs, including 21 lines severe...
ABSTRACT As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive complicates disease gene discovery and functional evaluation. Here, we propose a complex interaction model for pathogenicity of the autism-associated 16p11.2 deletion, where CNV genes interact with each other conserved pathways modulate expression phenotype. Using multiple quantitative methods Drosophila RNAi lines, identified range neurodevelopmental phenotypes knockdown...
Abstract We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly carrier parents. hypothesized the sensitizes genome for disease, while “second-hits” in genetic background modulate phenotypic trajectory. To test this model, we examined how defects conferred by knockdown individual homologs are modulated...