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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. Lalani SR, et al. Among authors: brundage ek. J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812404 Free PMC article.
Molecular characterization of CPS1 deletions by array CGH.
Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Wang J, et al. Among authors: brundage ek. Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19. Mol Genet Metab. 2011. PMID: 20855223 Free PMC article.
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Yan J, et al. J Med Genet. 2009 Sep;46(9):626-34. doi: 10.1136/jmg.2008.062471. Epub 2008 Dec 3. J Med Genet. 2009. PMID: 19052029 Free PMC article.
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. Jensen DR, et al. Among authors: brundage ek. Am J Med Genet A. 2009 Mar;149A(3):396-402. doi: 10.1002/ajmg.a.32691. Am J Med Genet A. 2009. PMID: 19215039 Free PMC article.
15 results