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Page 1
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM. Capasso M, et al. Among authors: rappaport e. Nat Genet. 2009 Jun;41(6):718-23. doi: 10.1038/ng.374. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412175 Free PMC article.
Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity.
Bosse KR, Diskin SJ, Cole KA, Wood AC, Schnepp RW, Norris G, Nguyen le B, Jagannathan J, Laquaglia M, Winter C, Diamond M, Hou C, Attiyeh EF, Mosse YP, Pineros V, Dizin E, Zhang Y, Asgharzadeh S, Seeger RC, Capasso M, Pawel BR, Devoto M, Hakonarson H, Rappaport EF, Irminger-Finger I, Maris JM. Bosse KR, et al. Among authors: rappaport ef. Cancer Res. 2012 Apr 15;72(8):2068-78. doi: 10.1158/0008-5472.CAN-11-3703. Epub 2012 Feb 20. Cancer Res. 2012. PMID: 22350409 Free PMC article.
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C. Hakonarson H, et al. Among authors: rappaport ef. Nature. 2007 Aug 2;448(7153):591-4. doi: 10.1038/nature06010. Epub 2007 Jul 15. Nature. 2007. PMID: 17632545
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole KA, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SF, Li H, Hakonarson H. Maris JM, et al. N Engl J Med. 2008 Jun 12;358(24):2585-93. doi: 10.1056/NEJMoa0708698. Epub 2008 May 7. N Engl J Med. 2008. PMID: 18463370 Free PMC article.
Identification of ALK as a major familial neuroblastoma predisposition gene.
Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM. Mossé YP, et al. Among authors: rappaport e. Nature. 2008 Oct 16;455(7215):930-5. doi: 10.1038/nature07261. Epub 2008 Aug 24. Nature. 2008. PMID: 18724359 Free PMC article.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Wang K, et al. Among authors: rappaport e. Nature. 2009 May 28;459(7246):528-33. doi: 10.1038/nature07999. Epub 2009 Apr 28. Nature. 2009. PMID: 19404256 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: rappaport ef. 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.
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS. Elia J, et al. Among authors: rappaport ef. Mol Psychiatry. 2010 Jun;15(6):637-46. doi: 10.1038/mp.2009.57. Epub 2009 Jun 23. Mol Psychiatry. 2010. PMID: 19546859 Free PMC article.
Integrative genomics identifies distinct molecular classes of neuroblastoma and shows that multiple genes are targeted by regional alterations in DNA copy number.
Wang Q, Diskin S, Rappaport E, Attiyeh E, Mosse Y, Shue D, Seiser E, Jagannathan J, Shusterman S, Bansal M, Khazi D, Winter C, Okawa E, Grant G, Cnaan A, Zhao H, Cheung NK, Gerald W, London W, Matthay KK, Brodeur GM, Maris JM. Wang Q, et al. Among authors: rappaport e. Cancer Res. 2006 Jun 15;66(12):6050-62. doi: 10.1158/0008-5472.CAN-05-4618. Cancer Res. 2006. PMID: 16778177
278 results