Intellectual and Developmental Disabilities Research Center

FACULTY

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. Ezell, KM, Tinker, RJ, Furuta, Y, Gulsevin, A, Bastarache, L, Hamid, R et al.. Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. Am J Med Genet A. 2024; :e63597. doi: 10.1002/ajmg.a.63597. PubMed PMID:38511854 .
  2. Dohrn, MF, Bademci, G, Rebelo, AP, Jeanne, M, Borja, NA, Beijer, D et al.. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol. 2024;11 (4):1075-1079. doi: 10.1002/acn3.51963. PubMed PMID:38504481 PubMed Central PMC11021672.
  3. Pucel, J, Briere, LC, Reuter, C, Gochyyev, P, Undiagnosed Diseases Network, LeBlanc, K et al.. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024;26 (6):101115. doi: 10.1016/j.gim.2024.101115. PubMed PMID:38436216 .
  4. Scala, M, Tomati, V, Ferla, M, Lena, M, Cohen, JS, Fatemi, A et al.. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet. 2024;111 (3):529-543. doi: 10.1016/j.ajhg.2024.02.001. PubMed PMID:38387458 PubMed Central PMC10940048.
  5. Forghani, I, Lang, SH, Rodier, MJ, Bivona, SA, Undiagnosed Diseases Network, Morales, AA et al.. EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. Am J Med Genet A. 2024;194 (6):e63556. doi: 10.1002/ajmg.a.63556. PubMed PMID:38348595 PubMed Central PMC11060917.
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