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FACULTY
Academic Address:
UCI Medical Center
101 The City Drive
ZC 4482
Orange, CA 92868
Email:
dmsmith@uci.edu
Moyra Smith, M.D., Ph.D.
- Faculty Profile
- Position:
- Professor Emeritus of Pediatrics
- - Human Genetics Division & Metabolism
- EDUCATION
- Medical School Education:
- University of Pretoria
- University College, London
- Internship:
- Baragwanath Hospital, Soweto South African
- Residency:
- Royal Hospital for Sick Children, Glasgow, Scotland
- Fellowship:
- Department of Pediatrics, Mount Sinai School of Medicine, New York
- MEMBERSHIPS & AFFILIATIONS
- Board Certifications:
- American Board of Medical Genetics
- - Clinical Genetics
- - Cytogenetics
- - Biochemical Genetics
- SELECTED PUBLICATIONS
- Books:
- 1. Mental retardation and Developmental disabilities: Genetic and Epigenetic Factors. Oxford Monographs in Medical Genetics. Moyra Smith. Oxford University Press. 2006 ISBN 0-19-517432-1.
- 2. Mc Kusick VA, Antonarakis S, Francomano CA, Hurko O, Scott AF, Smith M, Valle D, et al. Mendelian Inheritance in Man, Johns Hopkins University Press, 1999.
- Selected Peer-reviewed Publications:
- 3. Grady DL, Harxhi A, Smith M, Flodman P, Spence MA, Swanson JM, Moyzis RK.
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 5;136(1):33-5.
- 4. 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. 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.
- 5. Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA, Gargus JJ. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol. 2003 Jun;53(6):801-4. Genet. 2002 Aug 8;114 (6):667-72.
- 6. Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA. 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, 94(1-2):15-22, 2001.
- 7. Khare L, Strizheva GD, Bailey JN, Au K-S, Northrup H, Smith M, Smalley SL, Henske EP. A novel missense mutation in the GTPase Activating Protein Homology Region of TSC2 in two large families with Tuberous Sclerosis Complex. Journal of Medical Genetics, 38(5): 347-9, 2001.
- 8. Smith M, Sperling D. Novel 23 basepair duplication mutation in TSC1 exon
15 in an infant presenting with cardiac rhabdomyoma. Amer. J. Med. Genet.
84:346 49, 1999.
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