Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
Ballif, BC, Theisen, A, McDonald-McGinn, DM, Zackai, EH, Hersh, JH, Bejjani, BA, Shaffer, LG
Published in Clinical genetics (01.11.2008)
Published in Clinical genetics (01.11.2008)
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Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia
YU, L, SLOVAK, M. L, MANNOOR, K, CHEN, C, HUNGER, S. P, CARROLL, A. J, SCHULTZ, R. A, SHAFFER, L. G, BALLIF, B. C, NING, Y
Published in Leukemia (01.06.2011)
Published in Leukemia (01.06.2011)
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Journal Article
Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality
Heilstedt, HA, Ballif, BC, Howard, LA, Kashork, CD, Shaffer, LG
Published in Clinical genetics (01.10.2003)
Published in Clinical genetics (01.10.2003)
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Journal Article
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion
Park, Sung-Sup, Anyane-Yeboa, Kwame, Chen, Ken-Shiung, Kimonis, Virginia, Meschino, Wendy S, Summers, Anne M, Osterholm, Doreen E, Withers, Marjorie A, Potocki, Lorraine, Kashork, Catherine D, Shaffer, Lisa G, Lupski, James R
Published in Nature genetics (01.01.2000)
Published in Nature genetics (01.01.2000)
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Journal Article
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
Potocki, Lorraine, Glaze, Daniel, Tan, Dun-Xian, Park, Sung-Sup, Kashork, Catherine D, Shaffer, Lisa G, Reiter, Russel J, Lupski, James R
Published in Journal of medical genetics (01.06.2000)
Published in Journal of medical genetics (01.06.2000)
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Journal Article
Monosomy 1p36
Slavotinek, Anne, Shaffer, Lisa G, Shapira, Stuart K
Published in Journal of Medical Genetics (01.09.1999)
Published in Journal of Medical Genetics (01.09.1999)
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Journal Article
Book Review
Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome
Shapira, Stuart K., McCaskill, Christopher, Northrup, Hope, Spikes, Aimee S., Elder, F.F.B., Sutton, V. Reid, Korenberg, Julie R., Greenberg, Frank, Shaffer, Lisa G.
Published in American journal of human genetics (01.09.1997)
Published in American journal of human genetics (01.09.1997)
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Journal Article
The Promise and Pitfalls of Telomere Region–Specific Probes
Ballif, Blake C., Kashork, Catherine D., Shaffer, Lisa G.
Published in American journal of human genetics (01.11.2000)
Published in American journal of human genetics (01.11.2000)
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Journal Article
A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation
Edelmann, L., Spiteri, E., McCain, N., Goldberg, R., Pandita, R.K., Duong, S., Fox, J., Blumenthal, D., Lalani, S.R., Shaffer, L.G., Morrow, B.E.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
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Journal Article
Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells
Suhoski, M.M, Perez, E.E, Heltzer, M.L, Laney, A, Shaffer, L.G, Saitta, S, Nachman, S, Spinner, N.B, June, C.H, Orange, J.S
Published in Clinical immunology (Orlando, Fla.) (01.08.2008)
Published in Clinical immunology (Orlando, Fla.) (01.08.2008)
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Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition
Brothman, A.R., Persons, D.L., Shaffer, L.G.
Published in Cytogenetic and genome research (01.01.2009)
Published in Cytogenetic and genome research (01.01.2009)
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Journal Article
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
Spiteri, Elizabeth, Babcock, Melanie, Kashork, Catherine D., Wakui, Keiko, Gogineni, Swarna, Lewis, Debbie A., Williams, Kisa M., Minoshima, Shinsei, Sasaki, Takashi, Shimizu, Nobuyoshi, Potocki, Lorraine, Pulijaal, Venkat, Shanske, Alan, Shaffer, Lisa G., Morrow, Bernice E.
Published in Human molecular genetics (01.08.2003)
Published in Human molecular genetics (01.08.2003)
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Journal Article
Partial trisomy of chromosome 10(q22–q24) due to maternal insertional translocation (15;10)
Han, J.Y., Kim, K.H., Jun, H.J., Je, G.H., Glotzbach, C.D., Shaffer, L.G.
Published in American journal of medical genetics. Part A (01.12.2004)
Published in American journal of medical genetics. Part A (01.12.2004)
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Journal Article
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11
BARTSCH, O, WIM WUYTS, SHAFFER, L. G, WILLEMS, P. J, VAN HUL, W, HECHT, J. T, MEINECKE, P, HOGUE, D, WERNER, W, ZABEL, B, HINKEL, G. K, POWELL, C. M
Published in American journal of human genetics (01.04.1996)
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Published in American journal of human genetics (01.04.1996)
Journal Article
Molecular Refinement of the 1p36 Deletion Syndrome Reveals Size Diversity and a Preponderance of Maternally Derived Deletions
Wu, Yuan-Qing, Heilstedt, Heidi A., Bedell, Joseph A., May, Kristin M., Starkey, David E., McPherson, John D., Shapira, Stuart K., Shaffer, Lisa G.
Published in Human molecular genetics (01.02.1999)
Published in Human molecular genetics (01.02.1999)
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