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
- Zodanu, GKE, Zeigler, AC, Mudery, J, Wolf, C, Hwang, JH, Kang, X et al.. Novel Missense Variants in TRIM37 Associated with Mulibrey Nanism and Complex Congenital Heart Disease. Cardiol Cardiovasc Med. 2026;10 (2):22-33. doi: 10.26502/fccm.92920481. PubMed PMID:41907767 PubMed Central PMC13026078.
- Keehan, LA, Ono-Minagi, H, Hadhud, M, Rips, J, Hinds, DM, Fischer, AJ et al.. Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association. Genet Med. 2026;28 (4):102531. doi: 10.1016/j.gim.2026.102531. PubMed PMID:41653023 PubMed Central PMC13078123.
- Furuta, Y, Ezell, KM, Hamid, R, Cogan, JD, Cassini, TA, Rives, L et al.. Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. Mol Genet Genomic Med. 2025;13 (12):e70165. doi: 10.1002/mgg3.70165. PubMed PMID:41407309 PubMed Central PMC12711360.
- 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.
- Young, RE, Qiao, L, Hernan, R, Sweetser, DA, Waxler, JL, Scott, DA et al.. LONP1 Variants Are Associated With Clinically Diverse Phenotypes. Clin Genet. 2026;109 (3):437-457. doi: 10.1111/cge.70057. PubMed PMID:40931319 .