Nelson, Stanley F., Ph.D

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

1. Posner, N, Manjelievskaia, J, Talaga, AK, Richards, M, Lew, CR, Merla, V et al.. Real-world treatment and health care utilization among patients with Duchenne muscular dystrophy by race and ethnicity in a Medicaid population. J Manag Care Spec Pharm. 2025;31 (2):205-213. doi: 10.18553/jmcp.2025.31.2.205. PubMed PMID:39912815 .
2. Fitzsimmons, L, Undiagnosed Diseases Network, Beaulieu-Jones, B, Kobren, SN. Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. BioData Min. 2025;18 (1):6. doi: 10.1186/s13040-024-00418-5. PubMed PMID:39825393 PubMed Central PMC11740427.
3. Scala, M, Bradley, CA, Howe, JL, Trost, B, Salazar, NB, Shum, C et al.. Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. Am J Hum Genet. 2025;112 (1):154-167. doi: 10.1016/j.ajhg.2024.11.003. PubMed PMID:39706195 PubMed Central PMC11739878.
4. Borja, NA, Zafeer, MF, Bivona, S, Peart, L, Gultekin, SH, Undiagnosed Diseases Network et al.. KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3. J Med Genet. 2025;62 (2):117-122. doi: 10.1136/jmg-2024-109908. PubMed PMID:39643435 PubMed Central PMC11773626.
5. Tan, QK, McConkie-Rosell, A, Mahoney, R, Spillmann, RC, Schoch, K, Chanprasert, S et al.. Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2024; :e63956. doi: 10.1002/ajmg.a.63956. PubMed PMID:39629753 .

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