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Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.
Mascarello JT, Hirsch B, Kearney HM, Ketterling RP, Olson SB, Quigley DI, Rao KW, Tepperberg JH, Tsuchiya KD, Wiktor AE; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Mascarello JT, et al. Among authors: tepperberg jh. Genet Med. 2011 Jul;13(7):667-75. doi: 10.1097/GIM.0b013e3182227295. Genet Med. 2011. PMID: 21738013 Free article.
ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization.
Mascarello JT, Hirsch B, Kearney HM, Ketterling RP, Olson SB, Quigley DI, Rao KW, Tepperberg JH, Tsuchiya KD, Wiktor AE; A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee. Mascarello JT, et al. Among authors: tepperberg jh. Genet Med. 2019 Oct;21(10):2405. doi: 10.1038/s41436-019-0508-z. Genet Med. 2019. PMID: 31028353 Free article. No abstract available.
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. 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
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. 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.
Camptodactyly and the 22q11.2 deletion syndrome.
Couser NL, Pande CK, Walsh JM, Tepperberg J, Aylsworth AS. Couser NL, et al. Am J Med Genet A. 2017 Feb;173(2):515-518. doi: 10.1002/ajmg.a.38029. Epub 2016 Oct 28. Am J Med Genet A. 2017. PMID: 27792854
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Burnside RD, et al. Among authors: tepperberg jh. Am J Med Genet A. 2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495222
31 results