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Enhancing Knowledge and Improving Patient Care for Rare Genetic Diseases: Engagement of families, clinicians and clinical labortories - David Ledbetter PhD
Enhancing Knowledge and Improving Patient Care for Rare Genetic Diseases: Engagement of families, clinicians and clinical labortories  
2012 SERC-SERGG Annual Conference
Sawgrass Marriot
Ponte Vedra Beach, FL  
July 20th, 2012

About the Presentation
Dr. Ledbetter presents on patient care for rare genetic diseases.

Selected Publications by the Presenter
A240. The Autism Genome Project Consortium: Mapping autism risk loci using genetic linkage and chromosomal rearrangements. NatureGenetics39:319-328, 2007.

A241. Sebat, J., Lakshmi, B., Malhotra, D., Martin, C.L., Troge, J., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., Leotta, A., Pai, D., Zhang, R., Lee, Y-H., Hicks, J., Spence, S.J., Lee, A.T., Puura, K., Lehtimäki, T., Ledbetter, D.H., Gregersen, P.K., Bregman, J., Sutcliffe, J.S., Jobanputra, V., Chung,W., Warburton, D., King, M.C., Skuse, D., Geschwind, D.H., Gilliam, T.C., Ye, K. and Wigler, M.: Strong association of de novo copy number mutations with autism. Science: 316:445-449, 2007.

A242. Martin, C.L. and Ledbetter, D.H.: Autism and cytogenetic abnormalities: solving autism one chromosome at a time. CurrentPsychiatryReports;9:141-147, 2007.

A243. Martin, C.L., Nawaz, Z., Baldwin, E.L., Wallace, E.J., Justice, A.N. and Ledbetter, D.H.: The evolution of molecular ruler analysis for characterizing telomere imbalances: from FISH to array CGH, GeneticsinMedicine9: 566-573, 2007.

A244. Ledbetter, D.H. and Martin, C.L.: Cryptic telomere imbalance: A 15-year update. American JournalofMedicalGenetics145:327-334, 2007.

A245. Bettio, D., Baldwin, E.L., Carrozzo, R., Vignoli, A., May, L., Venci, A. and Ledbettter, D.H.: Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism. AmericanJournalofMedicalGenetics146:247-250, 2008.

A246. Alarcon, M., Abrahams, B.S., Stone, J.L., Duvall, J.A., Perederiy, J.V., Bomar, J.M., Sebat, J., Wigler, M., Martin, C.L., Ledbetter, D.H., Nelson, S.F., Cantor, R.M. and Geschwind, D.H.: Linkage, association and gene expression analyses identify CNTNAP2 as autism susceptibility gene. American Journalof HumanGenetics82:150-159, 2008.

A247. Baldwin, E.L., May, L.F., Justice, A.N., Martin, C.L. andLedbetter, D.H.: Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic counseling issues. AmericanJournalofHumanGenetics82:398-410, 2008. PMCID: PMC2427313

A248. Baldwin, E.L., Lee. J., Blake, D., Bunke, B., Alexander, C., Kogan, A., Ledbetter, D.H. and Martin, C.L.: Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. GeneticsinMedicine10:415-429, 2008.

A249. Ledbetter, D.H. and Faucett, W.A. Issues in genetic testing for ultra-rare diseases: Background and introduction. GeneticsinMedicine10:309-313, 2008.

A250. Ledbetter, D.H. Gene patenting vs. licensing: the role of academic researchers and advocacy groups. GeneticsinMedicine10:314-319,2008.

A251.Das, S., Bale, S.J. and Ledbetter, D.H.: Molecular genetic testing for ultra rare diseases: Models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. GeneticsinMedicine10:332-336, 2008.

A252. Korf, B.R., Ledbetter, D.H. and Murray, M.F.: Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006. GeneticsinMedicine10: 502-507, 2008.

A253. Ledbetter, D.H.: Cytogenetic technology, the genotype and the phenotype, New England Journal of Medicine 359: 1728-30, 2008.

A254. Rudd, M.K., Keene, J., Bunke, B., Kaminsky, E.B., Adam, M., Mulle, J., Ledbetter, D.H. and Martin, C.L.: Segmental duplications mediate novel, clinically relevant chromosome rearrangements. HumanMolecularGenetics18(16):2957-2962, 2009. PMID 19443486.

A255. Ledbetter, D.H.: Chaos in the embryo. NatureMedicine14(5): 490-491, 2009.

A256. Miller, D.T., Adam, M.P., Aradhya, S., Biesecker, L.G.,  Brothman, A.R., Carter, N.P., Church, D.M., Crolla, J.A., Eichler, E.E., Epstein, C.J., Faucett, W.A., Feuk, L., Friedman, J.M., Hamosh, A., Jackson, L., Kaminsky, E.B., Kok, K., Krantz, I.D., Kuhn, R.M., Lee, C., Ostell, J.M., Rosenberg, C., Scherer, S.W., Spinner, N.B., Stavropoulos, D.J., Tepperberg, J.H., Thorland, E.C., Vermeesch, J.R., Waggoner, D.J., Watson, M.S., Martin, C.L. and Ledbetter, D.H.: Consensus statement on chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. AmericanJournalofHumanGenetics86:749-764, 2010.

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