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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. Shaikh TH, et al. Among authors: goldmuntz e. Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10. Genome Res. 2009. PMID: 19592680 Free PMC article.
Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.
Emanuel BS, Driscoll D, Goldmuntz E, Baldwin S, Biegel J, Zackai EH, McDonald-McGinn D, Sellinger B, Gorman N, Williams S, et al. Emanuel BS, et al. Among authors: goldmuntz e. Prog Clin Biol Res. 1993;384:207-24. Prog Clin Biol Res. 1993. PMID: 8115404 Review. No abstract available.
Frequency of 22q11 deletions in patients with conotruncal defects.
Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Goldmuntz E, et al. J Am Coll Cardiol. 1998 Aug;32(2):492-8. doi: 10.1016/s0735-1097(98)00259-9. J Am Coll Cardiol. 1998. PMID: 9708481 Free article.
271 results