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A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. Haldeman-Englert CR, et al. Among authors: hakonarson h. Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13. Eur J Med Genet. 2009. PMID: 19100872 Free PMC article.
Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.
Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. Jackson EM, et al. Among authors: hakonarson h. Clin Cancer Res. 2009 Mar 15;15(6):1923-30. doi: 10.1158/1078-0432.CCR-08-2091. Epub 2009 Mar 10. Clin Cancer Res. 2009. PMID: 19276269 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: hakonarson h. 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.
Genome-wide association identifies diverse causes of common variable immunodeficiency.
Orange JS, Glessner JT, Resnick E, Sullivan KE, Lucas M, Ferry B, Kim CE, Hou C, Wang F, Chiavacci R, Kugathasan S, Sleasman JW, Baldassano R, Perez EE, Chapel H, Cunningham-Rundles C, Hakonarson H. Orange JS, et al. Among authors: hakonarson h. J Allergy Clin Immunol. 2011 Jun;127(6):1360-7.e6. doi: 10.1016/j.jaci.2011.02.039. Epub 2011 Apr 17. J Allergy Clin Immunol. 2011. PMID: 21497890 Free PMC article.
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, Hakonarson H, Gai X, Falk MJ. Xie HM, et al. Among authors: hakonarson h. BMC Bioinformatics. 2011 Oct 19;12:402. doi: 10.1186/1471-2105-12-402. BMC Bioinformatics. 2011. PMID: 22011106 Free PMC article.
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H. Elia J, et al. Among authors: hakonarson h. Nat Genet. 2011 Dec 4;44(1):78-84. doi: 10.1038/ng.1013. Nat Genet. 2011. PMID: 22138692 Free PMC article.
1,032 results