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
- Cooperstein, IB, Marwaha, S, Ward, A, Kobren, SN, Carter, JN, Undiagnosed Diseases Network et al.. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Med. 2025;17 (1):127. doi: 10.1186/s13073-025-01546-1. PubMed PMID:41121346 PubMed Central PMC12539062.
- Stewart, R, Ezell, KM, Bell, DS, Corner, B, McMinn, A, Cogan, JD et al.. Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism. Am J Med Genet A. 2025; :e64233. doi: 10.1002/ajmg.a.64233. PubMed PMID:40838347 .
- Kobren, SN, Moldovan, MA, Reimers, R, Traviglia, D, Li, X, Barnum, D et al.. Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. Nat Commun. 2025;16 (1):7267. doi: 10.1038/s41467-025-61712-2. PubMed PMID:40770127 PubMed Central PMC12328722.
- 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;27 (9):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.