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509 results

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Page 1
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.
Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Gordon AS, Hakonarson H, Hawkins JB, Husami A, Ivacic LC, Kullo IJ, Linderman MD, Manolio TA, Obeng AO, Pellegrino R, Prows CA, Ritchie MD, Smith ME, Stallings SC, Wolf WA, Zhang K, Scott SA. Rasmussen-Torvik LJ, et al. Among authors: pellegrino r. J Mol Diagn. 2017 Jul;19(4):561-566. doi: 10.1016/j.jmoldx.2017.04.002. Epub 2017 May 11. J Mol Diagn. 2017. PMID: 28502727 Free PMC article.
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM. Araujo AN, et al. Among authors: pellegrino r. J Clin Endocrinol Metab. 2014 Jun;99(6):E1104-12. doi: 10.1210/jc.2013-2993. Epub 2014 Mar 6. J Clin Endocrinol Metab. 2014. PMID: 24601688
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C. Almoguera B, et al. Among authors: pellegrino r. PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015. PLoS One. 2015. PMID: 26197217 Free PMC article.
CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.
Dajani R, Li J, Wei Z, Glessner JT, Chang X, Cardinale CJ, Pellegrino R, Wang T, Hakooz N, Khader Y, Sheshani A, Zandaki D, Hakonarson H. Dajani R, et al. Among authors: pellegrino r. Sci Rep. 2015 Aug 21;5:13391. doi: 10.1038/srep13391. Sci Rep. 2015. PMID: 26292654 Free PMC article.
A current snapshot of common genomic variants contribution in psychiatric disorders.
Santoro ML, Moretti PN, Pellegrino R, Gadelha A, Abílio VC, Hayashi MA, Belangero SI, Hakonarson H. Santoro ML, et al. Among authors: pellegrino r. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):997-1005. doi: 10.1002/ajmg.b.32475. Epub 2016 Aug 3. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27486013 Review.
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
Sleiman PMA, March M, Nguyen K, Tian L, Pellegrino R, Hou C, Dridi W, Sager M, Housawi YH, Hakonarson H. Sleiman PMA, et al. Among authors: pellegrino r. Hum Mutat. 2017 May;38(5):507-510. doi: 10.1002/humu.23188. Epub 2017 Mar 10. Hum Mutat. 2017. PMID: 28150392
Common variants at 5q33.1 predispose to migraine in African-American children.
Chang X, Pellegrino R, Garifallou J, March M, Snyder J, Mentch F, Li J, Hou C, Liu Y, Sleiman PMA, Hakonarson H. Chang X, et al. Among authors: pellegrino r. J Med Genet. 2018 Dec;55(12):831-836. doi: 10.1136/jmedgenet-2018-105359. Epub 2018 Sep 28. J Med Genet. 2018. PMID: 30266756 Free PMC article.
509 results