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. Borroto, MC, Patel, H, Srivastava, S, Swanson, LC, Keren, B, Whalen, S et al.. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024;160 :45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. PubMed PMID:39181022 .
2. Morimoto, M, Ryu, E, Steger, BJ, Dixit, A, Saito, Y, Yoo, J et al.. Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder. Am J Hum Genet. 2024;111 (9):1970-1993. doi: 10.1016/j.ajhg.2024.07.008. PubMed PMID:39106866 .
3. 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 .
4. Mulvihill, JJ, Findley, L, Ni, W, Sinsheimer, JS, Cole, FS, Esteves, C et al.. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones. Genet Med. 2024;26 (10):101203. doi: 10.1016/j.gim.2024.101203. PubMed PMID:38967101 .
5. 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 .

Search PubMed