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113 results

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Page 1
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. Falk MJ, et al. Among authors: mentch fd. JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. JIMD Rep. 2014. PMID: 24515575 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.
Robinson JR, Carroll RJ, Bastarache L, Chen Q, Pirruccello J, Mou Z, Wei WQ, Connolly J, Mentch F, Crane PK, Hebbring SJ, Crosslin DR, Gordon AS, Rosenthal EA, Stanaway IB, Hayes MG, Wei W, Petukhova L, Namjou-Khales B, Zhang G, Safarova MS, Walton NA, Still C, Bottinger EP, Loos RJF, Murphy SN, Jackson GP, Abumrad N, Kullo IJ, Jarvik GP, Larson EB, Weng C, Roden D, Khera AV, Denny JC. Robinson JR, et al. Obesity (Silver Spring). 2022 Dec;30(12):2477-2488. doi: 10.1002/oby.23561. Epub 2022 Nov 13. Obesity (Silver Spring). 2022. PMID: 36372681 Free PMC article.
The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. Zhao J, et al. Among authors: mentch fd. BMC Med Genet. 2010 Jun 14;11:96. doi: 10.1186/1471-2350-11-96. BMC Med Genet. 2010. PMID: 20546612 Free PMC article.
A genome-wide study reveals copy number variants exclusive to childhood obesity cases.
Glessner JT, Bradfield JP, Wang K, Takahashi N, Zhang H, Sleiman PM, Mentch FD, Kim CE, Hou C, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Zhao J, Chiavacci RM, Li M, Buxbaum JD, Berkowitz RI, Hakonarson H, Grant SF. Glessner JT, et al. Among authors: mentch fd. Am J Hum Genet. 2010 Nov 12;87(5):661-6. doi: 10.1016/j.ajhg.2010.09.014. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950786 Free PMC article.
BMD-associated variation at the Osterix locus is correlated with childhood obesity in females.
Zhao J, Bradfield JP, Li M, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Frackelton EC, Chiavacci RM, Berkowitz RI, Zemel BS, Hakonarson H, Grant SF. Zhao J, et al. Among authors: mentch fd. Obesity (Silver Spring). 2011 Jun;19(6):1311-4. doi: 10.1038/oby.2010.324. Epub 2011 Jan 6. Obesity (Silver Spring). 2011. PMID: 21212767 Free article.
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD, Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM, Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos C, Hakonarson H. Bradfield JP, et al. Among authors: mentch fd. PLoS Genet. 2011 Sep;7(9):e1002293. doi: 10.1371/journal.pgen.1002293. Epub 2011 Sep 29. PLoS Genet. 2011. PMID: 21980299 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. Nat Genet. 2011 Dec 4;44(1):78-84. doi: 10.1038/ng.1013. Nat Genet. 2011. PMID: 22138692 Free PMC article.
113 results