M Anne Spence

Title(s)Professor Emeritus, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(949) 824-9787
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    Collapse Research 
    Collapse Research Activities and Funding
    NIH U09HG001869Jul 1, 1998 - Aug 31, 2003
    Role: Principal Investigator
    NIH P01HD035458Mar 1, 1998 - Sep 30, 2005
    Role: Principal Investigator
    NIH P30HD028202Aug 31, 1995 - Jul 31, 2000
    Role: Co-Principal Investigator
    NIH P01HG000834Feb 1, 1993 - Dec 31, 1996
    Role: Principal Investigator
    NIH R01MH044742Apr 1, 1989 - Mar 31, 1995
    Role: Co-Principal Investigator
    NIH R01DE007062Jan 1, 1985 - Apr 30, 1991
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta. 2012 Oct; 1817(10):1796-802. Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux R, Osann K, Spence MA, Wallace DC. PMID: 22538295; PMCID: PMC3423964.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCellsCTClinical Trials
    2. Does theory of mind performance differ in children with early-onset and regressive autism? Dev Sci. 2012 Jan; 15(1):25-34. Matthews NL, Goldberg WA, Lukowski AF, Osann K, Abdullah MM, Ly AR, Thorsen K, Spence MA. PMID: 22251289.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    3. The effect of rate stress on the auditory brainstem response in autism: a preliminary report. Int J Audiol. 2010 Feb; 49(2):129-40. Fujikawa-Brooks S, Isenberg AL, Osann K, Spence MA, Gage NM. PMID: 20151887.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    4. Nuclear and mitochondrial genome defects in autisms. Ann N Y Acad Sci. 2009 Jan; 1151:102-32. Smith M, Spence MA, Flodman P. PMID: 19154520.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    5. A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. J Am Acad Child Adolesc Psychiatry. 2008 Jun; 47(6):642-651. Gotham K, Risi S, Dawson G, Tager-Flusberg H, Joseph R, Carter A, Hepburn S, McMAHON W, Rodier P, Hyman SL, Sigman M, Rogers S, Landa R, Spence MA, Osann K, Flodman P, Volkmar F, Hollander E, Buxbaum J, Pickles A, Lord C. PMID: 18434924; PMCID: PMC3057666.
      View in: PubMed   Mentions: 126     Fields:    Translation:Humans
    6. Use of home videotapes to confirm parental reports of regression in autism. J Autism Dev Disord. 2008 Jul; 38(6):1136-46. Goldberg WA, Thorsen KL, Osann K, Spence MA. PMID: 18058010.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    7. Birthday and non-birthday videotapes: the importance of context for the behavior of young children with autism. J Autism Dev Disord. 2008 Jul; 38(6):1047-58. Thorsen KL, Goldberg WA, Osann K, Spence MA. PMID: 17985221.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    8. Association between amygdala volume and anxiety level: magnetic resonance imaging (MRI) study in autistic children. J Child Neurol. 2006 Dec; 21(12):1051-8. Juranek J, Filipek PA, Berenji GR, Modahl C, Osann K, Spence MA. PMID: 17156697.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    9. Performance comparison of two-point linkage methods using microsatellite markers flanking known disease locations. BMC Genet. 2005 Dec 30; 6 Suppl 1:S141. Logue MW, George AW, Spence MA, Vieland VJ. PMID: 16451601; PMCID: PMC1866794.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    10. Brief report: early social communication behaviors in the younger siblings of children with autism. J Autism Dev Disord. 2005 Oct; 35(5):657-64. Goldberg WA, Jarvis KL, Osann K, Laulhere TM, Straub C, Thomas E, Filipek P, Spence MA. PMID: 16167088.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    11. Sequence variants of the DRD4 gene in autism: further evidence that rare DRD4 7R haplotypes are ADHD specific. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 05; 136B(1):33-5. Grady DL, Harxhi A, Smith M, Flodman P, Spence MA, Swanson JM, Moyzis RK. PMID: 15892149.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    12. 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 Med Genet. 2004 Apr 16; 5:10. Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. PMID: 15090072; PMCID: PMC411038.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    13. The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. Am J Hum Genet. 2004 May; 74(5):931-44. Wang E, Ding YC, Flodman P, Kidd JR, Kidd KK, Grady DL, Ryder OA, Spence MA, Swanson JM, Moyzis RK. PMID: 15077199; PMCID: PMC1181986.
      View in: PubMed   Mentions: 113     Fields:    Translation:HumansCells
    14. Language and other regression: assessment and timing. J Autism Dev Disord. 2003 Dec; 33(6):607-16. Goldberg WA, Osann K, Filipek PA, Laulhere T, Jarvis K, Modahl C, Flodman P, Spence MA. PMID: 14714930.
      View in: PubMed   Mentions: 60     Fields:    Translation:Humans
    15. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol. 2003 Jun; 53(6):801-4. Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA, Gargus JJ. PMID: 12783428.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansCells
    16. High prevalence of rare dopamine receptor D4 alleles in children diagnosed with attention-deficit hyperactivity disorder. Mol Psychiatry. 2003 May; 8(5):536-45. Grady DL, Chi HC, Ding YC, Smith M, Wang E, Schuck S, Flodman P, Spence MA, Swanson JM, Moyzis RK. PMID: 12808433.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansCells
    17. Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. Cytogenet Genome Res. 2002; 98(4):233-9. Smith M, Woodroffe A, Smith R, Holguin S, Martinez J, Filipek PA, Modahl C, Moore B, Bocian ME, Mays L, Laulhere T, Flodman P, Spence MA. PMID: 12826745.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    18. Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci U S A. 2002 Jan 08; 99(1):309-14. Ding YC, Chi HC, Grady DL, Morishima A, Kidd JR, Kidd KK, Flodman P, Spence MA, Schuck S, Swanson JM, Zhang YP, Moyzis RK. PMID: 11756666; PMCID: PMC117557.
      View in: PubMed   Mentions: 135     Fields:    Translation:HumansCells
    19. The genetics of autism. Curr Opin Pediatr. 2001 Dec; 13(6):561-5. Spence MA. PMID: 11753107.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    20. Preliminary implementation of new data mining techniques for the analysis of simulation data from Genetic Analysis Workshop 12: problem 2. Genet Epidemiol. 2001; 21 Suppl 1:S390-5. Flodman P, Macula AJ, Spence MA, Torney DC. PMID: 11793705.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    21. Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR. Cytogenet Cell Genet. 2001; 94(1-2):15-22. Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA. PMID: 11701947.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    22. Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. Am J Med Genet. 2000 Dec 04; 96(6):765-70. Smith M, Filipek PA, Wu C, Bocian M, Hakim S, Modahl C, Spence MA. PMID: 11121177.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    23. The "Circular" Problems of Calculating Risk: Dealing with Consanguinity. J Genet Couns. 2000 Jun; 9(3):179-201. Spence MA, Hodge SE. PMID: 26141316.
      View in: PubMed   Mentions: 1     Fields:    
    24. Attention deficit/hyperactivity disorder children with a 7-repeat allele of the dopamine receptor D4 gene have extreme behavior but normal performance on critical neuropsychological tests of attention. Proc Natl Acad Sci U S A. 2000 Apr 25; 97(9):4754-9. Swanson J, Oosterlaan J, Murias M, Schuck S, Flodman P, Spence MA, Wasdell M, Ding Y, Chi HC, Smith M, Mann M, Carlson C, Kennedy JL, Sergeant JA, Leung P, Zhang YP, Sadeh A, Chen C, Whalen CK, Babb KA, Moyzis R, Posner MI. PMID: 10781080; PMCID: PMC18305.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansCells
    25. Dopamine genes and ADHD. Neurosci Biobehav Rev. 2000 Jan; 24(1):21-5. Swanson JM, Flodman P, Kennedy J, Spence MA, Moyzis R, Schuck S, Murias M, Moriarity J, Barr C, Smith M, Posner M. PMID: 10654656.
      View in: PubMed   Mentions: 83     Fields:    Translation:HumansCTClinical Trials
    26. A radiation hybrid map of human chromosome 5 with integration of cytogenetic, genetic, and transcript maps. Genome Res. 1997 Sep; 7(9):897-909. McPherson JD, Apostol B, Wagner-McPherson CB, Hakim S, Del Mastro RG, Aziz N, Baer E, Gonzales G, Krane MC, Markovich R, Masny P, Ortega M, Vu J, Vujicic M, Church DM, Segal A, Grady DL, Moyzis RK, Spence MA, Lovett M, Wasmuth JJ. PMID: 9314495.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    27. Bipolar disorder: dominant or recessive on chromosome 5? Genet Epidemiol. 1997; 14(6):647-51. Homer JP, Flodman PL, Spence MA. PMID: 9433557.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    28. Bipolar disorder: evidence for a major locus. Am J Med Genet. 1995 Oct 09; 60(5):370-6. Spence MA, Flodman PL, Sadovnick AD, Bailey-Wilson JE, Ameli H, Remick RA. PMID: 8546148.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    29. Methodological issues in linkage analyses for psychiatric disorders: secular trends, assortative mating, bilineal pedigrees. Report of the MacArthur Foundation Network I Task Force on Methodological Issues. Hum Hered. 1993 May-Jun; 43(3):166-72. Spence MA, Bishop DT, Boehnke M, Elston RC, Falk C, Hodge SE, Ott J, Rice J, Merikangas K, Kupfer D. PMID: 8330880.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    30. Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance. Am J Med Genet Suppl. 1986; 2:163-76. Bocian M, Spence MA, Marazita ML, Walker AP, Weissberg DL. PMID: 3146286.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
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