Master
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Current Major Projects
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Disease Gene Discovery (Undiagnosed Diseases Network and Community Texome Project)
- Start with unsolved disease (clinical features suggest likely Mendelian)
- Identify Candidate genes in Genomic data (Exome sequencing, Genome Sequencing)
- CTNNB1: Rosetti et al. Mol Genet Genom Med 2021
- NACC1: Schoch et al. AJHG 2017
- ACTG2: Wangler et al. 2014
- Study candidate genes in Drosophila models
- MRTFB: Andrews et al. Genet Med. 2023
- CACNA1A: Luo et al. PLoS Genet. 2017
- EBF3: Chao et al. AJHG 2017
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Rare Disease Mechanisms -> Peroxisomal disorders - Genomic and metabolomic studies of peroxisomal disorders in humans, seeking insights from rare diseases into peroxisomal metabolism
- Unique rare cases: Ventura et al. 2016, Bacino et al. 2015
- Drosophila models: Wangler et al. 2017, Chao et al. 2016, Graves et al. 2020
- Metabolomics: Wangler et al. 2018
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