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Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK, Quick C, Ducamp S, Zhu Z, Feng YA, Naik H, Balwani M, Anderson KE, Lin X, Phillips JE, Rebeiz L, Bonkovsky HL, McGuire BM, Wang B, Chasman DI, Smoller JW, Fleming MD, Christiani DC. Dickey AK, et al. Among authors: smoller jw. Genet Med. 2021 Jan;23(1):140-148. doi: 10.1038/s41436-020-00951-8. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873934 Free PMC article.
Phenome-wide heritability analysis of the UK Biobank.
Ge T, Chen CY, Neale BM, Sabuncu MR, Smoller JW. Ge T, et al. Among authors: smoller jw. PLoS Genet. 2017 Apr 7;13(4):e1006711. doi: 10.1371/journal.pgen.1006711. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28388634 Free PMC article.
Analysis of shared heritability in common disorders of the brain.
Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinge… See abstract for full author list ➔ Brainstorm Consortium, et al. Among authors: smoller jw. Science. 2018 Jun 22;360(6395):eaap8757. doi: 10.1126/science.aap8757. Science. 2018. PMID: 29930110 Free PMC article.
Genome-wide association study identifies 48 common genetic variants associated with handedness.
Cuellar-Partida G, Tung JY, Eriksson N, Albrecht E, Aliev F, Andreassen OA, Barroso I, Beckmann JS, Boks MP, Boomsma DI, Boyd HA, Breteler MMB, Campbell H, Chasman DI, Cherkas LF, Davies G, de Geus EJC, Deary IJ, Deloukas P, Dick DM, Duffy DL, Eriksson JG, Esko T, Feenstra B, Geller F, Gieger C, Giegling I, Gordon SD, Han J, Hansen TF, Hartmann AM, Hayward C, Heikkilä K, Hicks AA, Hirschhorn JN, Hottenga JJ, Huffman JE, Hwang LD, Ikram MA, Kaprio J, Kemp JP, Khaw KT, Klopp N, Konte B, Kutalik Z, Lahti J, Li X, Loos RJF, Luciano M, Magnusson SH, Mangino M, Marques-Vidal P, Martin NG, McArdle WL, McCarthy MI, Medina-Gomez C, Melbye M, Melville SA, Metspalu A, Milani L, Mooser V, Nelis M, Nyholt DR, O'Connell KS, Ophoff RA, Palmer C, Palotie A, Palviainen T, Pare G, Paternoster L, Peltonen L, Penninx BWJH, Polasek O, Pramstaller PP, Prokopenko I, Raikkonen K, Ripatti S, Rivadeneira F, Rudan I, Rujescu D, Smit JH, Smith GD, Smoller JW, Soranzo N, Spector TD, Pourcain BS, Starr JM, Stefánsson H, Steinberg S, Teder-Laving M, Thorleifsson G, Stefánsson K, Timpson NJ, Uitterlinden AG, van Duijn CM, van Rooij FJA, Vink JM, Vollenweider P, Vuoksimaa E, Waeber G, Wareham NJ, Warringto… See abstract for full author list ➔ Cuellar-Partida G, et al. Among authors: smoller jw. Nat Hum Behav. 2021 Jan;5(1):59-70. doi: 10.1038/s41562-020-00956-y. Epub 2020 Sep 28. Nat Hum Behav. 2021. PMID: 32989287 Free PMC article.
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
Blout Zawatsky CL, Shah N, Machini K, Perez E, Christensen KD, Zouk H, Steeves M, Koch C, Uveges M, Shea J, Gold N, Krier J, Boutin N, Mahanta L, Rehm HL, Weiss ST, Karlson EW, Smoller JW, Lebo MS, Green RC. Blout Zawatsky CL, et al. Among authors: smoller jw. Am J Hum Genet. 2021 Dec 2;108(12):2224-2237. doi: 10.1016/j.ajhg.2021.10.005. Epub 2021 Nov 8. Am J Hum Genet. 2021. PMID: 34752750 Free PMC article.
533 results