Research
Genetics of complex human diseases
Appointments
- Professor in Residence, Human Genetics
- Director, DNA Microarray Technology
- Co-Director, Center for Duchenne Muscular Dystrophy
Biography
He developed and continues to direct the UCLA DNA Microarray Facility which provides access to whole genome expression array analysis for faculty on campus and for the NIH Neuroscience Blueprint. His current interest is in the development and application of technologies for whole genome sequencing and cancer genome sequencing.Publications
Publications
- Gaibee, Z, Warner, N, Bugda Gwilt, K, Li, W, Guan, R, Yourshaw, M et al.. The Genetic Architecture of Congenital Diarrhea and Enteropathy. N Engl J Med. 2025;392 (13):1297-1309. doi: 10.1056/NEJMoa2405333. PubMed PMID:40174224 PubMed Central PMC11968080.
- Zodanu, GKE, Hwang, JH, Mudery, J, Sisniega, C, Kang, X, Wang, LK et al.. Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects. Int J Mol Sci. 2025;26 (5):. doi: 10.3390/ijms26052115. PubMed PMID:40076735 PubMed Central PMC11901071.
- Posner, N, Manjelievskaia, J, Talaga, AK, Richards, M, Lew, CR, Merla, V et al.. Real-world treatment and health care utilization among patients with Duchenne muscular dystrophy by race and ethnicity in a Medicaid population. J Manag Care Spec Pharm. 2025;31 (2):205-213. doi: 10.18553/jmcp.2025.31.2.205. PubMed PMID:39912815 PubMed Central PMC11852792.
- Weisz-Hubshman, M, Burrage, LC, Jangam, SV, Rosenfeld, JA, von Hardenberg, S, Bergmann, A et al.. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025;27 (4):101369. doi: 10.1016/j.gim.2025.101369. PubMed PMID:39891528 .
- Fitzsimmons, L, Undiagnosed Diseases Network, Beaulieu-Jones, B, Kobren, SN. Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. BioData Min. 2025;18 (1):6. doi: 10.1186/s13040-024-00418-5. PubMed PMID:39825393 PubMed Central PMC11740427.