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All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs.
Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, Kelsoe JR, O'Donovan MC, Furberg H; Tobacco and Genetics Consortium; Bipolar Disorder Psychiatric Genomics Consortium; Schizophrenia Psychiatric Genomics Consortium; Schork NJ, Andreassen OA, Dale AM. Schork AJ, et al. Among authors: pham p. PLoS Genet. 2013 Apr;9(4):e1003449. doi: 10.1371/journal.pgen.1003449. Epub 2013 Apr 25. PLoS Genet. 2013. PMID: 23637621 Free PMC article.
Symptom-driven idiopathic disease gene identification.
Molparia B, Pham PH, Torkamani A. Molparia B, et al. Genet Med. 2015 Nov;17(11):859-65. doi: 10.1038/gim.2014.202. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590976 Free PMC article.
Evidence for the role of EPHX2 gene variants in anorexia nervosa.
Scott-Van Zeeland AA, Bloss CS, Tewhey R, Bansal V, Torkamani A, Libiger O, Duvvuri V, Wineinger N, Galvez L, Darst BF, Smith EN, Carson A, Pham P, Phillips T, Villarasa N, Tisch R, Zhang G, Levy S, Murray S, Chen W, Srinivasan S, Berenson G, Brandt H, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson C, Kaplan AS, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB, Bulik CM, Keel P, Klump KL, Lilenfeld L, Plotnicov K, Topol EJ, Shih PB, Magistretti P, Bergen AW, Berrettini W, Kaye W, Schork NJ. Scott-Van Zeeland AA, et al. Among authors: pham p. Mol Psychiatry. 2014 Jun;19(6):724-32. doi: 10.1038/mp.2013.91. Epub 2013 Sep 3. Mol Psychiatry. 2014. PMID: 23999524 Free PMC article.
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Chen YZ, et al. Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13. Ann Neurol. 2014. PMID: 24700542 Free PMC article.
Benzo[a][1,4]benzothia-zino[3,2-c]phenothia-zine.
Bader MM, Pham PT, Abu Khodair SS, Saleh MI. Bader MM, et al. Among authors: pham pt. IUCrdata. 2024 Apr 30;9(Pt 4):x240357. doi: 10.1107/S2414314624003572. eCollection 2024 Apr. IUCrdata. 2024. PMID: 38721004 Free PMC article.
828 results