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
- Dore, R, Chang, CT, Declève, A, Brunori, G, Ludlam, WG, Huang, A et al.. ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. Genet Med. 2025; :101506. doi: 10.1016/j.gim.2025.101506. PubMed PMID:40576023 PubMed Central PMC12260708.
- Fazal, S, Dashnow, H, Dohrn, MF, Raposo, J, Hiatt, L, Danzi, MC et al.. A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort. Genet Med. 2025;27 (8):101462. doi: 10.1016/j.gim.2025.101462. PubMed PMID:40417743 PubMed Central PMC12318663.
- Ngo, KJ, Wong, DY, Huang, AY, Lee, H, Nelson, SF, Fogel, BL et al.. Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2. Mol Med. 2025;31 (1):205. doi: 10.1186/s10020-025-01257-8. PubMed PMID:40413398 PubMed Central PMC12103034.
- 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.