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
- Kang, X, Zhao, Y, Nelson, SF, Pyle, A, Lusis, AJ, Touma, M et al.. Heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) maintains muscle progenitor identity by stabilizing the Ppp1r1b-lncRNA-PRC2 complex. Nucleic Acids Res. 2026;54 (9):. doi: 10.1093/nar/gkag497. PubMed PMID:42152677 PubMed Central PMC13183673.
- Chesmore, KN, Barthélémy, F, Rengarajan, S, Scripture-Adams, DD, Sen, A, Nasif, D et al.. Single nuclei/cell transcriptomics reveal DMD driven cell dynamics and mechanisms of fibroblast inflammatory tissue priming in human dystrophic muscle. Res Sq. 2026; :. doi: 10.21203/rs.3.rs-4934147/v1. PubMed PMID:41994144 PubMed Central PMC13082126.
- 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.