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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  
Date
July 20th, 2012
Length
22:15

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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