Abstract

The Sequencing Core is designed to provide program investigators with access to high quality automated fluorescent DNA sequencing of contributed DNA samples. Most of this DNA sequencing will be performed directly on clones (phage or plasmid) provided by the individual investigators and the Core will also provide shotgun sequencing for larger fragments.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
1P01HD039420-01A1
Application #
6477650
Study Section
Special Emphasis Panel (ZHD1)
Project Start
2001-06-11
Project End
2006-05-31
Budget Start
Budget End
Support Year
1
Fiscal Year
2001
Total Cost
Indirect Cost

  Institution

Name
Baylor College of Medicine
Department
Type
DUNS #
074615394
City
Houston
State
TX
Country
United States
Zip Code
77030

  Publications

Alkalay, Avishai A; Guo, Tingwei; Montagna, Cristina et al. (2011) Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A 155A:548-54
Yatsenko, Svetlana A; Brundage, Ellen K; Roney, Erin K et al. (2009) Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet 18:1924-36
Yan, J; Zhang, F; Brundage, E et al. (2009) Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet 46:626-34
Bi, Weimin; Sapir, Tamar; Shchelochkov, Oleg A et al. (2009) Increased LIS1 expression affects human and mouse brain development. Nat Genet 41:168-77
Dobyns, William B; Mirzaa, Ghayda; Christian, Susan L et al. (2008) Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A:1637-54
Carvalho, Claudia M B; Lupski, James R (2008) Copy number variation at the breakpoint region of isochromosome 17q. Genome Res 18:1724-32
Borg, Katarzyna; Nowakowska, Beata; Obersztyn, Ewa et al. (2007) Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet A 143A:2738-43
Simovich, Marcia J; Yatsenko, Svetlana A; Kang, Sung-Hae L et al. (2007) Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn 27:1112-7
Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane et al. (2007) Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633-49
Babcock, Melanie; Yatsenko, Svetlana; Hopkins, Janet et al. (2007) Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet 16:2560-71

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