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Copy Number Variation in Autism Spectrum Disorders - Christa Martin PhD
Copy Number Variation in Autism Spectrum Disorders  
2009 SERGG Annual Conference
Novant Health Winston Salem
Novant Health Multidisciplinary Cancer Clinic
Winston Salem, NC  
August 8th, 2009

About the Presentation
On August 8, 2009, Dr. Christa Lese Martin of the Emory University School of Medicine presented “Copy number variation in Autism Spectrum Disorders” at the Southeastern Regional Genetics Group, Inc. (SERGG) 27th Annual Meeting in Asheville, NC.

Presenter Biography
Dr. Martin is an Associate Professor at Emory University School of Medicine in the Department of Human Genetics and a Senior Director of Emory Genetics Laboratory. Dr. Martin received her PhD in Human Genetics from the University of Pittsburgh and completed her post-doctoral training at the University of Chicago. Her main research interest is in copy number imbalances in individuals with autism and other neurodevelopmental disorders.

Selected Publications by the Presenter

Lese Martin C and Ledbetter DH: Autism and cytogenetic abnormalities: Solving autism one chromosome at a time. Curr Psych Reports, 9(2):141-147, 2007.

Lese MartinC, DuvallJA, IlkinY, Simon J, Arreaza M, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell C, Rao K, Cook E, Geschwind DH: Cytogenetic and molecular characterization of A2BP1/ FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet, Am J Med Genet Part B 144B:869-876, 2007.

Sebat J, Lakshmi B, Malhotra D, Martin CL, Troge J, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee Y, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter DH, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M: Strong association of de novo copy number mutations with autism. Science, 316(5823):445-449, 2007.

Alarcon, M, Abrahams, BS, Stone, JL, Duvall, JA, Perederiy, JV, Bomar, JM, Sebat, J, Wigler, M, Martin, CL, Ledbetter, DH, Nelson, SF, Cantor, RM, and Geschwind, DH: Linkage, association and gene expression analyses identify CNTNAP2 as autism susceptibility gene. Am J Hum Genet. 82(1):150-159. 2008 Jan. PMID: 18179893

Baldwin EL, Lee J, Blake D, Bunke B, Alexander C, Kogan A, Ledbetter DH, Martin CL;Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.  Genet Med, 10(6):415-429, 2008. PMID 18496225.

Adam MP, Justice AN, Schelley S, Hudgins L, Martin CL; Clinical Utility of Array Comparative Genomic Hybridization:  Uncovering Tumor Susceptibility in Individuals with Developmental Delay. J Pediatr. Jan;154(1):143-146, 2009. PMID 19187739.

Rudd, M.K., Keene, J., Bunke, B., Kaminsky, E.B., Adam, M., Mulle, J., Ledbetter, D.H., Martin, C.L. Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Human Molecular Genetics, 18(16):2957-2962, 2009.

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