Intellectual and Developmental Disabilities Research Center

Members

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. Gogate, N, Jolly, A, Rosenfeld, JA, Bahena-Carbajal, P, Carrasco, D, Bernstein, JA et al.. Domain-associated phenotypic patterns with MACF1 variants. Genet Med. 2026; :102776. doi: 10.1016/j.gim.2026.102776. PubMed PMID:42937053 .
  2. Shoffner, G, Barthelemy, F, Pi, J, Manoian, S, Nguyen, BT, Little, I et al.. Structural engineering of dual-targeting antisense oligonucleotides enhances exon 44 skipping for treating Duchenne muscular dystrophy. bioRxiv. 2026; :. doi: 10.64898/2026.10.01.754576. PubMed PMID:42926403 PubMed Central PMC13691969.
  3. Spillmann, RC, Walley, N, Schoch, K, Mikati, MA, Jobanputra, V, Shea, P et al.. Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network. Genet Med. 2026; :102736. doi: 10.1016/j.gim.2026.102736. PubMed PMID:42803155 .
  4. Hwang, S, Brown, RM, Baldridge, D, Baldwin, EE, Beggs, AH, Bernstein, JA et al.. Arriving at a diagnosis: Effective strategies used by the Undiagnosed Diseases Network. Genet Med. 2026;28 (11):102718. doi: 10.1016/j.gim.2026.102718. PubMed PMID:42720004 PubMed Central PMC13644579.
  5. Killam, BY, Knol, MJ, Fradejas-Villar, N, Chillon, TS, Ruijter, GJG, Bonte, R et al.. Disease characteristics of SEPSECS deficiency: An international, retrospective, multicenter cohort study. Genet Med. 2026;28 (11):102684. doi: 10.1016/j.gim.2026.102684. PubMed PMID:42603098 .
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