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Page 1
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Among authors: hakonarson h. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
Kugathasan S, Baldassano RN, Bradfield JP, Sleiman PM, Imielinski M, Guthery SL, Cucchiara S, Kim CE, Frackelton EC, Annaiah K, Glessner JT, Santa E, Willson T, Eckert AW, Bonkowski E, Shaner JL, Smith RM, Otieno FG, Peterson N, Abrams DJ, Chiavacci RM, Grundmeier R, Mamula P, Tomer G, Piccoli DA, Monos DS, Annese V, Denson LA, Grant SF, Hakonarson H. Kugathasan S, et al. Among authors: hakonarson h. Nat Genet. 2008 Oct;40(10):1211-5. doi: 10.1038/ng.203. Epub 2008 Aug 31. Nat Genet. 2008. PMID: 18758464 Free PMC article.
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, Gai X, Wang SS, Fornage M, Shaikh T, Groop L, Boehnke M, Hall AS, Hattersley AT, Frackelton E, Patterson N, Chiang CW, Kim CE, Fabsitz RR, Ouwehand W, Price AL, Munroe P, Caulfield M, Drake T, Boerwinkle E, Reich D, Whitehead AS, Cappola TP, Samani NJ, Lusis AJ, Schadt E, Wilson JG, Koenig W, McCarthy MI, Kathiresan S, Gabriel SB, Hakonarson H, Anand SS, Reilly M, Engert JC, Nickerson DA, Rader DJ, Hirschhorn JN, Fitzgerald GA. Keating BJ, et al. Among authors: hakonarson h. PLoS One. 2008;3(10):e3583. doi: 10.1371/journal.pone.0003583. Epub 2008 Oct 31. PLoS One. 2008. PMID: 18974833 Free PMC article.
Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene.
Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA. Sievert AJ, et al. Among authors: hakonarson h. Brain Pathol. 2009 Jul;19(3):449-58. doi: 10.1111/j.1750-3639.2008.00225.x. Epub 2008 Oct 21. Brain Pathol. 2009. PMID: 19016743 Free PMC article.
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.
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.
Wang K, Zhang H, Kugathasan S, Annese V, Bradfield JP, Russell RK, Sleiman PM, Imielinski M, Glessner J, Hou C, Wilson DC, Walters T, Kim C, Frackelton EC, Lionetti P, Barabino A, Van Limbergen J, Guthery S, Denson L, Piccoli D, Li M, Dubinsky M, Silverberg M, Griffiths A, Grant SF, Satsangi J, Baldassano R, Hakonarson H. Wang K, et al. Among authors: hakonarson h. Am J Hum Genet. 2009 Mar;84(3):399-405. doi: 10.1016/j.ajhg.2009.01.026. Epub 2009 Feb 26. Am J Hum Genet. 2009. PMID: 19249008 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.
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: hakonarson h. Nature. 2009 May 28;459(7246):528-33. doi: 10.1038/nature07999. Epub 2009 Apr 28. Nature. 2009. PMID: 19404256 Free PMC article.
1,034 results