M. Anne Spence, Ph.D. - UCI School of Medicine

FACULTY

Academic Address:
UC Irvine
Sprague Hall, Room 307
839 Medical Science Court
Irvine, CA 92697

Email:
maspence@uci.edu

M. Anne Spence, Ph.D., FACMG - Faculty Profile

Summary:
Our research focus is identifying the genes responsible for human disease with a particular emphasis on birth defects and behavior disorders in children. We work with the patients and their families to collect data, including DNA for genetic analysis. Research projects include studies on autism, ADHD, and congenital cataracts among others. The analyses are statistical in nature for human data and the laboratory is primarily computer based.
SELECTED PUBLICATIONS

1. Smith, M; Woodroffe, A; Smith, RR; Holguin, ST; Martinez, J; Filipek, PA; Modahl, C; Moore, B; Bocian, ME; Mays, L; Laulhere, T; Flodman, P; Spence, MA. Molecular Genetic delineation of a deletion of chromosome 13q12-q13 in a patient with autism and auditory processing deficits. Cytogenetics and Genome Research, 98(4):233-9, 2002.

2. Goldberg, WA; Osann, K; Filipek, PA; Laulhere, T; Jarvis, K; Modahl, C; Flodman, P; and Spence, MA. Language and Other Regression: Assessment and Timing. Journal of Autism and Developmental Disorders, 33:607-16, 2003.

3. Devlin, B; Bennett, P; Dawson, G; Figlewicz; DA; Grigorenko, EL; McMahon, W; Minshew, N; Pauls, D; Smith, M; Spence, MA; Rodier, PM; Stodgell, C; the CPEA Genetics Network, Schellenberg, GD. Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA Network. Am J Med Genet Neuropsych, 126B:46-50, 2004.

4. Wang, E; Ding, Y-C; Flodman, P; Kidd, JR; Kidd, KK; Grady, DL; Ryder, OA; Spence, MA; Swanson, JM; and Moyzis, RK. The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus. Am. J. Hum. Genet. 74(5):931-944, 2004.

5. Leung,PWL; Lee, CC; Hung, SF; Ho, TP; Tang, CP; Kwong, SL; Leung, SY; Yuen, ST; Oosterlaan, J; Flodman, P; Grady, D; Ding, YC; Schuck, S; Spence, MA; Chi, HC; Moyzis, R; and Swanson, J. Dopamine receptor D4 (DRD4) gene in Han Chinese children with attention-deficit/hyperactivity disorder (ADHD): increased prevalence of the 2-repeat allele. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2005, 133(1):54-6.

6. Ramanathan, S; Woodroffe, A; Flodman, PL; Mays, LZ; Hanouni, M; Modahl, CB; Steinberg-Epstein, R; Bocian, ME; Spence, MA, Smith, M. A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. BMC Medical Genetics, 2004, 5:10.

7. Haverty CE, Lin AE, Simpson E, Spence, MA, Martin RA. 47, XXX associated with malformations. Am J Med Genet A. 2004;125(1):108-11.

8. Wassink TH, Piven J, Vieland VJ, Jenkins L, Frants R, Bartlett CW, Goedken R, Childress D, Spence MA, Smith M, Sheffield VC. Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropyshciatr Genet, May, 2005.