Characterization of a cryptic 3.3 Mb deletion in a patient with a “balanced t(15;22) translocation” using high density oligo array CGH and gene expression arraysHow to cite this article: Li MM, Nimmakayalu MA, Mercer D, Andersson HC, Emanuel BS. 2008. Characterization of a cryptic 3.3 Mb deletion in a patient with a “balanced t(15;22) translocation” using high density oligo array CGH and gene expression arrays. Am J Med Genet Part A 146A:368–375.

Autor: Li, Marilyn M., Nimmakayalu, Manjunath A., Mercer, Danielle, Andersson, Hans C., Emanuel, Beverly S.

Publikováno v: American Journal of Medical Genetics. Part A; February 2008, Vol. 146 Issue: 3 p368-375, 8p

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A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

Autor: Gotter AL; The Division of Human Genetics, The Children's Hospital of Philadelphia and the Joseph Stokes Jr Research Institute, Philadelphia, PA 19104, USA., Nimmakayalu MA, Jalali GR, Hacker AM, Vorstman J, Conforto Duffy D, Medne L, Emanuel BS

Publikováno v: Genome research [Genome Res] 2007 Apr; Vol. 17 (4), pp. 470-81. Date of Electronic Publication: 2007 Mar 09.

Reprogramming of the epigenome in neurodevelopmental disorders.

Autor: Wilson, Khadija D.¹ (AUTHOR), Porter, Elizabeth G.² (AUTHOR), Garcia, Benjamin A.² (AUTHOR)

Publikováno v: Critical Reviews in Biochemistry & Molecular Biology. Feb2022, Vol. 57 Issue 1, p73-112. 40p.