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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A. Levy B, et al. Among authors: tepperberg j. Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31. Genet Med. 2012. PMID: 22653535 Free article.
Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.
Burnside RD, Ibrahim J, Flora C, Schwartz S, Tepperberg JH, Papenhausen PR, Warburton PE. Burnside RD, et al. Among authors: tepperberg jh. Cytogenet Genome Res. 2011;132(4):227-32. doi: 10.1159/000322815. Epub 2011 Jan 6. Cytogenet Genome Res. 2011. PMID: 21212645 Free PMC article.
Oncogene amplification in transforming myelodysplasia.
Papenhausen PR, Griffin S, Tepperberg J. Papenhausen PR, et al. Among authors: tepperberg j. Exp Mol Pathol. 2005 Oct;79(2):168-75. doi: 10.1016/j.yexmp.2005.05.007. Exp Mol Pathol. 2005. PMID: 16026782
Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.
Papenhausen P, Kelly CA, Zhang Z, Tepperberg J, Burnside RD, Schwartz S. Papenhausen P, et al. Among authors: tepperberg j. Cancer Genet. 2019 Feb;231-232:1-13. doi: 10.1016/j.cancergen.2018.12.002. Epub 2018 Dec 12. Cancer Genet. 2019. PMID: 30803551
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Among authors: tepperberg jh. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.
UPD detection using homozygosity profiling with a SNP genotyping microarray.
Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside RD, Jaswaney V, Pappas J, Pasion R, Friedman K, Tepperberg J. Papenhausen P, et al. Among authors: tepperberg j. Am J Med Genet A. 2011 Apr;155A(4):757-68. doi: 10.1002/ajmg.a.33939. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594998
41 results