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
- Mintz, KT, Altamirano, EN, Halley, MC, Barton, KS, Cho, MK, Bernstein, JA et al.. "It didn't feel like anything unusual because we had already been through so much": Disability-Related Research Experiences of Families with Children Enrolled in the Undiagnosed Diseases Network. Genet Med. 2026; :102663. doi: 10.1016/j.gim.2026.102663. PubMed PMID:42439107 PubMed Central PMC13367406.
- Aceves-Ewing, NM, Lanza, DG, Marcogliese, PC, Lu, D, Hsu, CW, Hashimoto, H et al.. Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. Genet Med. 2026; :102648. doi: 10.1016/j.gim.2026.102648. PubMed PMID:42429102 .
- Leon Tenorio, AA, Sugio, T, Cheng, J, Bonner, DE, Esfahani, MS, Kasinathan, S et al.. DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. ACR Open Rheumatol. 2026;8 (2):e70184. doi: 10.1002/acr2.70184. PubMed PMID:42396794 PubMed Central PMC12928082.
- Ferrasse, A, Mendez, R, Gorzynski, JE, Reuter, C, Carter, JN, Blas, M et al.. Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Genome Biol. 2026;27 (1):. doi: 10.1186/s13059-026-04137-4. PubMed PMID:42298673 PubMed Central PMC13267750.
- Chen, A, Avadhani, U, Ngo, K, Corona, RI, Neto, GVC, Figueroa, KP et al.. Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort. Mov Disord. 2026; :. doi: 10.1002/mds.70387. PubMed PMID:42236257 .