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. Huang, Y, Jay, KL, Huang, AY, Wan, J, Jangam, SV, Chorin, O et al.. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024; :101218. doi: 10.1016/j.gim.2024.101218. PubMed PMID:39036895 .
2. McNamee, L, Schoch, K, Huang, A, Lee, H, Wang, LK, Smith, EC et al.. Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy. Am J Med Genet A. 2024; :e63798. doi: 10.1002/ajmg.a.63798. PubMed PMID:38924341 .
3. Moulton, MJ, Atala, K, Zheng, Y, Dutta, D, Grange, DK, Lin, WW et al.. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024;26 (9):101174. doi: 10.1016/j.gim.2024.101174. PubMed PMID:38847193 .
4. Zodanu, GKE, Hwang, JH, Mehta, Z, Sisniega, C, Barsegian, A, Kang, X et al.. High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects. Int J Mol Sci. 2024;25 (10):. doi: 10.3390/ijms25105469. PubMed PMID:38791509 PubMed Central PMC11122089.
5. Rael, VE, Yano, JA, Huizar, JP, Slayden, LC, Weiss, MA, Turcotte, EA et al.. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024;221 (8):. doi: 10.1084/jem.20232005. PubMed PMID:38780621 PubMed Central PMC11116816.

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