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Page 1
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.
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Veléz JI, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M. Roessler E, et al. Among authors: goldmuntz e. Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. doi: 10.1016/j.ymgme.2009.05.005. Epub 2009 May 27. Mol Genet Metab. 2009. PMID: 19553149 Free PMC article.
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.
Variants of folate metabolism genes and risk of left-sided cardiac defects.
Mitchell LE, Long J, Garbarini J, Paluru P, Goldmuntz E. Mitchell LE, et al. Among authors: goldmuntz e. Birth Defects Res A Clin Mol Teratol. 2010 Jan;88(1):48-53. doi: 10.1002/bdra.20622. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 19777601 Free PMC article.
Rare structural variation of synapse and neurotransmission genes in autism.
Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS. Gai X, et al. Among authors: goldmuntz e. Mol Psychiatry. 2012 Apr;17(4):402-11. doi: 10.1038/mp.2011.10. Epub 2011 Mar 1. Mol Psychiatry. 2012. PMID: 21358714 Free PMC article.
272 results