Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
SJ Garnai, ML Brinkmeier, B Emery, TS Aleman, LC Pyle, B Veleva-Rotse, RA Sisk, FW Rozsa, . Ozel, Jun Li, Sayoko Moroi, Steven Archer, CM Lin, S Sheskey, L Wiinikka-Buesser, J Eadie, JE Urquhart, GCM Black, MI Othman, Michael Boehnke, . Sullivan, GL Skuta, HS Pawar, AE Katz, LA Huryn, RB Hufnagel, Sally Camper, Julia Richards, Lev Prasov, Cagri Besirli, Brenda Bohnsack, . Monte, Susan Elner, T Jayasundera, Mark Johnson, S Kamat, J Serpen, K Lewis, P Chan, J Johnston, T Wolfsberg, J Paschall, L Biesecker, B Lyons, S Dagenais, M Wegener
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and Von Willebrand Factor Plasma Levels
M Sabater-Lleal, JE Huffman, PS De Vries, J Marten, MA Mastrangelo, C Song, N Pankratz, CK Ward-Caviness, LR Yanek, S Trompet, GE Delgado, X Guo, TM Bartz, A Martinez-Perez, M Germain, HG De Haan, . Ozel, O Polasek, AV Smith, JD Eicher, AP Reiner, W Tang, NM Davies, DJ Stott, JI Rotter, GH Tofler, E Boerwinkle, MPM De Maat, ME Kleber, P Welsh, JA Brody, MH Chen, D Vaidya, JM Soria, P Suchon, A Van Hylckama Vlieg, Karl Desch, I Kolcic, PK Joshi, LJ Launer, TB Harris, H Campbell, I Rudan, LC Becker, Jun Li, F Rivadeneira, AG Uitterlinden, A Hofman, OH Franco, M Cushman, BM Psaty, PE Morange, B Mcknight, . Chong, I Fernandez-Cadenas, J Rosand, A Lindgren, V Gudnason, JF Wilson, C Hayward, David Ginsburg, M Fornage, FR Rosendaal, JC Souto, NS Jenny, W März, JW Jukema, A Dehghan, DA Trégouët, AC Morrison, AD Johnson, CJ O'donnell, DP Strachan, CJ Lowenstein, NL Smith
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
J Carlson, AE Locke, M Flickinger, Matthew Zawistowski, S Levy, RM Myers, Michael Boehnke, HM Kang, Laura Scott, Jun Li, S Zöllner, D Absher, Huda Akil, G Breen, Margit Burmeister, S Cohen-Woods, WG Iacono, JA Knowles, L Legrand, Q Lu, M McGue, Melvin McInnis, MT Pato, M Rivera, JL Sobell, JB Vincent, SJ Watson, Stanley Watson Jr, Sebastian Zoellner
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program
D Klarin, SM Damrauer, K Cho, YV Sun, TM Teslovich, J Honerlaw, . Gagnon, SL DuVall, Jun Li, GM Peloso, M Chaffin, AM Small, J Huang, H Tang, JA Lynch, YL Ho, DJ Liu, CA Emdin, AH Li, JE Huffman, JS Lee, P Natarajan, R Chowdhury, D Saleheen, M Vujkovic, A Baras, S Pyarajan, E Di Angelantonio, BM Neale, A Naheed, AV Khera, J Danesh, KM Chang, G Abecasis, Cristen Willer, FE Dewey, DJ Carey, J Concato, JM Gaziano, CJ O’Donnell, PS Tsao, S Kathiresan, DJ Rader, PWF Wilson, TL Assimes
Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: The cohorts for heart and aging research in genomic epidemiology
AA Seyerle, CM Sitlani, R Noordam, SM Gogarten, Jun Li, X Li, DS Evans, F Sun, MA Laaksonen, A Isaacs, K Kristiansson, HM Highland, JD Stewart, TB Harris, S Trompet, JC Bis, GM Peloso, JA Brody, L Broer, EL Busch, Q Duan, AM Stilp, CJ O'Donnell, PW Macfarlane, JS Floyd, JA Kors, HJ Lin, R Li-Gao, T Sofer, R Méndez-Giráldez, . Cummings, . Heckbert, A Hofman, I Ford, Y Li, LJ Launer, K Porthan, C Newton-Cheh, . Napier, KF Kerr, AP Reiner, KM Rice, J Roach, BM Buckley, EZ Soliman, R De Mutsert, N Sotoodehnia, AG Uitterlinden, KE North, CR Lee, V Gudnason, T Stürmer, FR Rosendaal, KD Taylor, KL Wiggins, JG Wilson, YD Chen, RC Kaplan, K Wilhelmsen, LA Cupples, V Salomaa, C Van Duijn, JW Jukema, Y Liu, . Mook-Kanamori, LA Lange, RS Vasan, AV Smith, BH Stricker, CC Laurie, JI Rotter, EA Whitsel, BM Psaty, CL Avery
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes article
A Mahajan, J Wessel, SM Willems, W Zhao, NR Robertson, AY Chu, W Gan, H Kitajima, D Taliun, NW Rayner, X Guo, Y Lu, M Li, RA Jensen, Y Hu, S Huo, KK Lohman, W Zhang, JP Cook, BP Prins, J Flannick, N Grarup, VV Trubetskoy, J Kravic, SS Kim, DV Rybin, H Yaghootkar, M Müller-Nurasyid, K Meidtner, R Li-Gao, TV Varga, J Marten, Jun Li, AV Smith, P An, S Ligthart, S Gustafsson, G Malerba, A Demirkan, JF Tajes, V Steinthorsdottir, M Wuttke, C Lecoeur, M Preuss, Lawrence Bielak, M Graff, HM Highland, AE Justice, DJ Liu, E Marouli, GM Peloso, HR Warren, S Afaq, S Afzal, E Ahlqvist, LB Bang, AG Bertoni, C Bombieri, J Bork-Jensen, I Brandslund, JA Brody, NP Burtt, M Canouil, YDI Chen, YS Cho, C Christensen, SV Eastwood, KU Eckardt, K Fischer, G Gambaro, V Giedraitis, ML Grove, HG De Haan, S Hackinger, Y Hai, S Han, A Tybjærg-Hansen, MF Hivert, B Isomaa, S Jäger, ME Jørgensen, T Jørgensen, A Käräjämäki, HA Koistinen, P Kovacs, J Kriebel, F Kronenberg, K Läll, LA Lange, JJ Lee, B Lehne, H Li, KH Lin, A Linneberg, CT Liu, J Liu, M Loh, R Mägi, Patricia Peyser, Sharon Kardia
Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group
JS Floyd, CM Sitlani, CL Avery, R Noordam, X Li, AV Smith, SM Gogarten, Jun Li, L Broer, DS Evans, S Trompet, JA Brody, JD Stewart, JD Eicher, AA Seyerle, J Roach, LA Lange, HJ Lin, JA Kors, TB Harris, R Li-Gao, N Sattar, . Cummings, KL Wiggins, . Napier, T Stürmer, JC Bis, KF Kerr, AG Uitterlinden, KD Taylor, DJ Stott, R De Mutsert, LJ Launer, EL Busch, R Méndez-Giráldez, N Sotoodehnia, EZ Soliman, Y Li, Q Duan, FR Rosendaal, PE Slagboom, KC Wilhelmsen, AP Reiner, YD Chen, . Heckbert, RC Kaplan, KM Rice, JW Jukema, AD Johnson, Y Liu, . Mook-Kanamori, V Gudnason, JG Wilson, JI Rotter, CC Laurie, BM Psaty, EA Whitsel, LA Cupples, BH Stricker
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
V Turcot, Y Lu, HM Highland, C Schurmann, AE Justice, RS Fine, JP Bradfield, T Esko, A Giri, M Graff, X Guo, AE Hendricks, T Karaderi, A Lempradl, AE Locke, A Mahajan, E Marouli, S Sivapalaratnam, KL Young, T Alfred, MF Feitosa, NGD Masca, AK Manning, C Medina-Gomez, P Mudgal, MCY Ng, AP Reiner, S Vedantam, SM Willems, TW Winkler, Goncalo Abecasis, KK Aben, DS Alam, . Alharthi, M Allison, P Amouyel, FW Asselbergs, PL Auer, B Balkau, LE Bang, I Barroso, L Bastarache, M Benn, S Bergmann, Lawrence Bielak, M Blüher, Michael Boehnke, H Boeing, E Boerwinkle, CA Böger, J Bork-Jensen, ML Bots, EP Bottinger, DW Bowden, I Brandslund, G Breen, MH Brilliant, L Broer, M Brumat, AA Burt, AS Butterworth, PT Campbell, S Cappellani, DJ Carey, E Catamo, MJ Caulfield, JC Chambers, DI Chasman, YDI Chen, R Chowdhury, C Christensen, AY Chu, M Cocca, JP Cook, J Corley, J Corominas Galbany, AJ Cox, DS Crosslin, G Cuellar-Partida, A D'Eustacchio, J Danesh, G Davies, PIW Bakker, MCH Groot, R Mutsert, IJ Deary, G Dedoussis, EW Demerath, M Heijer, AI Hollander, HM Ruijter, JG Dennis, JC Denny, E Angelantonio, F Drenos, M Du, MP Dubé, AM Dunning, DF Easton, TL Edwards, Cristen Willer, Jun Li, Elizabeth Speliotes, Patricia Peyser, Sharon Kardia
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