Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. by Stitziel, N, Fouchier, S, Sjouke, B, Peloso, G, Moscoso, A, Auer, P, Goel, A, Gigante, B, Barnes, T, Melander, O, Orho-Melander, M, Duga, S, Sivapalaratnam, S, Nikpay, M, Martinelli, N, Girelli, D, Jackson, R, Kooperberg, C, Lange, L, Ardissino, D, McPherson, R, Farrall, M, Watkins, H, Reilly, M, Rader, D

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. by Peloso, G, Auer, P, Bis, J, Voorman, A, Morrison, A, Stitziel, N, Brody, J, Khetarpal, SA, Crosby, JR, Fornage, M, Isaacs, A, Jakobsdottir, J, Feitosa, M, Davies, G, Huffman, J, Manichaikul, A, Davis, B, Lohman, K, Joon, A, Smith, A, Grove, M, Zanoni, P, Redon, V, Demissie, S, Lawson, K

Loss-of-function mutations in APOC3, triglycerides, and coronary disease. by Crosby, J, Peloso, G, Auer, P, Crosslin, DR, Stitziel, N, Lange, L, Lu, Y, Tang, Z, Zhang, H, Hindy, G, Masca, N, Stirrups, K, Kanoni, S, Do, R, Jun, G, Hu, Y, Kang, H, Xue, C, Goel, A, Farrall, M, Duga, S, Merlini, P, Asselta, R, Girelli, D, Olivieri, O

Inactivating mutations in NPC1L1 and protection from coronary heart disease. by Stitziel, N, Won, H, Morrison, A, Peloso, G, Do, R, Lange, L, Fontanillas, P, Gupta, N, Duga, S, Goel, A, Farrall, M, Saleheen, D, Ferrario, P, König, I, Asselta, R, Merlini, P, Marziliano, N, Notarangelo, M, Schick, U, Auer, P, Assimes, T, Reilly, M, Wilensky, R, Rader, D, Hovingh, G

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia by Stitziel, N, Fouchier, S, Sjouke, B, Peloso, G, Moscoso, A, Auer, P, Goel, A, Gigante, B, Barnes, T, Melander, O, Orho-Melander, M, Duga, S, Sivapalaratnam, S, Nikpay, M, Martinelli, N, Girelli, D, Jackson, R, Kooperberg, C, Lange, L, Ardissino, D, McPherson, R, Farrall, M, Watkins, H, Reilly, M, Rader, D

Association of exome sequences with plasma C-reactive protein levels in >9000 participants. by Schick, U, Auer, P, Bis, J, Lin, H, Wei, P, Pankratz, N, Lange, L, Brody, J, Stitziel, N, Kim, D, Carlson, C, Fornage, M, Haessler, J, Hsu, L, Jackson, R, Kooperberg, C, Leal, S, Psaty, B, Boerwinkle, E, Tracy, R, Ardissino, D, Shah, S, Willer, C, Loos, R, Melander, O

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. by Do, R, Stitziel, N, Won, H, Jørgensen, AB, Duga, S, Angelica Merlini, P, Kiezun, A, Farrall, M, Goel, A, Zuk, O, Guella, I, Asselta, R, Lange, L, Peloso, G, Auer, P, Girelli, D, Martinelli, N, Farlow, D, DePristo, M, Roberts, R, Stewart, A, Saleheen, D, Danesh, J, Epstein, SE, Sivapalaratnam, S

Phenotypic consequences of a genetic predisposition to enhanced nitric oxide signaling by Emdin, C, Khera, A, Klarin, D, Natarajan, P, Zekavat, S, Nomura, A, Haas, M, Aragam, K, Ardissino, D, Wilson, J, Schunkert, H, McPherson, R, Watkins, H, Elosua, R, Bown, M, Samani, N, Baber, U, Erdmann, J, Gormley, P, Palotie, A, Stitziel, N, Gupta, N, Danesh, J, Saleheen, D, Gabriel, S, Kathiresan, S

Phenotypic characterization of genetically lowered human lipoprotein(a) levels by Emdin, C, Khera, A, Natarajan, P, Klarin, D, Won, H, Peloso, G, Stitziel, N, Nomura, A, Zekavat, S, Bick, A, Gupta, N, Asselta, R, Duga, S, Merlini, P, Correa, A, Kessler, T, Wilson, J, Bown, M, Hall, A, Braund, P, Samani, N, Schunkert, H, Marrugat, J, Elosua, R, McPherson, R, Farrall, M, Watkins, H, Willer, C, Abecasis, G, Felix, J, Vasan, R, Lander, E, Rader, D, Danesh, J, Ardissino, D, Gabriel, S, Saleheen, D, Kathiresan, S, CHARGE–Heart Failure Consortium, CARDIoGRAM Exome Consortium

Distribution and medical impact of loss-of-function variants in the Finnish founder population by Lim, E, Würtz, P, Havulinna, A, Palta, P, Tukiainen, T, Rehnström, K, Esko, T, Mägi, R, Inouye, M, Lappalainen, T, Chan, Y, Salem, R, Lek, M, Flannick, J, Sim, X, Manning, A, Ladenvall, C, Bumpstead, S, Hämäläinen, E, Aalto, K, Maksimow, M, Salmi, M, Blankenberg, S, Ardissino, D, Shah, S, Horne, B, McPherson, R, Hovingh, G, Reilly, M, Watkins, H, Goel, A, Farrall, M, Girelli, D, Reiner, A, Stitziel, N, Kathiresan, S, Gabriel, S, Barrett, J, Lehtimäki, T, Laakso, M, Groop, L, Kaprio, J, Perola, M, McCarthy, M, Boehnke, M, Altshuler, D, Lindgren, C, Hirschhorn, J, Metspalu, A, Freimer, N, Zeller, T, Jalkanen, S, Koskinen, S, Raitakari, O, Durbin, R, Macarthur, D, Salomaa, V, Ripatti, S, Daly, M, Palotie, A

Coding variation in ANGPTL4, LPL, and SVEP1 and the risk of coronary disease by Stitziel, N, Stirrups, K, Masca, N, Erdmann, J, Ferrario, P, Koenig, I, Weeke, P, Webb, T, Auer, P, Schick, U, Lu, Y, Zhang, H, Dube, M, Goel, A, Farrall, M, Peloso, G, Won, H, Do, R, van Iperen, E, Kanoni, S, Kruppa, J, Mahajan, A, Scott, R, Willenborg, C, Braund, P, van Capelleveen, J, Doney, A, Donnelly, L, Asselta, R, Merlini, P, Duga, S, Marziliano, N, Denny, J, Shaffer, C, El-Mokhtari, N, Franke, A, Gottesman, O, Heilmann, S, Hengstenberg, C, Hoffmann, P, Holmen, O, Hveem, K, Jansson, J, Joeckel, K, Kessler, T, Kriebel, J, Laugwitz, K, Marouli, E, Martinelli, N, McCarthy, M, Van Zuydam, N, Meisinger, C, Esko, T, Mihailov, E, Escher, SA, Alver, M, Moebus, S, Morris, A, Mueller-Nurasyid, M, Nikpay, M, Olivieri, O, Perreault, L, AlQarawi, A, Robertson, N, Akinsanya, K, Reilly, D, Vogt, T, Yin, W, Asselbergs, F, Kooperberg, C, Jackson, R, Stahl, E, Strauch, K, Varga, T, Waldenberger, M, Zeng, L, Kraja, A, Liu, C, Ehret, G, Newton-Cheh, C, Chasman, D, Chowdhury, R, Ferrario, M, Ford, I, Jukema, J, Kee, F, Kuulasmaa, K, Nordestgaard, BG, Perola, M, Saleheen, D, Sattar, N, Surendran, P, Tregouet, D, Young, R, Howson, J, Butterworth, A, Danesh, J, Ardissino, D, Bottinger, E, Erbel, R, Franks, P, Girelli, D, Hall, A, Hovingh, G, Kastrati, A, Lieb, W, Meitinger, T, Kraus, W, Shah, S, McPherson, R, Orho-Melander, M, Melander, O, Metspalu, A, Palmer, C, Peters, A, Rader, D, Reilly, M, Loos, R, Reiner, A, Roden, D, Tardif, J, Thompson, JR, Wareham, N, Watkins, H, Willer, C, Kathiresan, S, Deloukas, P, Samani, N, Schunkert, H

Systematic evaluation of pleiotropy identifies 6 further loci associated with coronary artery disease by Webb, T, Erdmann, J, Stirrups, K, Stitziel, N, Masca, N, Jansen, H, Kanoni, S, Nelson, C, Ferrario, P, König, I, Eicher, J, Johnson, A, Hamby, S, Betsholtz, C, Ruusalepp, A, Franzén, O, Schadt, E, Björkegren, J, Weeke, P, Auer, P, Schick, U, Lu, Y, Zhang, H, Dube, M, Goel, A, Farrall, M, Peloso, G, Won, H, Do, R, van Iperen, E, Kruppa, J, Mahajan, A, Scott, R, Willenborg, C, Braund, P, van Capelleveen, J, Doney, A, Donnelly, L, Asselta, R, Merlini, P, Duga, S, Marziliano, N, Denny, J, Shaffer, C, El-Mokhtari, N, Franke, A, Heilmann, S, Hengstenberg, C, Hoffmann, P, Holmen, O, Hveem, K, Jansson, J, Jöckel, K, Kessler, T, Kriebel, J, Laugwitz, K, Marouli, E, Martinelli, N, McCarthy, M, Van Zuydam, N, Meisinger, C, Esko, T, Mihailov, E, Escher, S, Alver, M, Moebus, S, Morris, A, Virtamo, J, Nikpay, M, Olivieri, O, Provost, S, AlQarawi, A, Robertson, N, Akinsansya, K, Reilly, D, Vogt, T, Yin, W, Asselbergs, F, Kooperberg, C, Jackson, R, Stahl, E, Müller-Nurasyid, M, Strauch, K, Varga, T, Waldenberger, M, Wellcome Trust Case Control Consortium, Zeng, L, Chowdhury, R, Salomaa, V, Ford, I, Jukema, J, Amouyel, P, Kontto, J, MORGAM Investigators, Nordestgaard, B, Ferrières, J, Saleheen, D, Sattar, N, Surendran, P, Wagner, A, Young, R, Howson, J, Butterworth, A, Danesh, J, Ardissino, D, Bottinger, E, Erbel, R, Franks, P, Girelli, D, Hall, A, Hovingh, G, Kastrati, A, Lieb, W, Meitinger, T, Kraus, W, Shah, S, McPherson, R, Orho-Melander, M, Melander, O, Metspalu, A, Palmer, C, Peters, A, Rader, D, Reilly, M, Loos, R, Reiner, A, Roden, D, Tardif, J, Thompson, J, Wareham, N, Watkins, H, Willer, C, Samani, N, Schunkert, H, Deloukas, P, Kathiresan, S, Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators

Exome-wide association study of plasma lipids in >300,000 individuals. by Liu, DJ, Peloso, GM, Yu, H, Butterworth, AS, Wang, X, Mahajan, A, Saleheen, D, Emdin, C, Alam, D, Alves, AC, Amouyel, P, Di Angelantonio, E, Arveiler, D, Assimes, TL, Auer, PL, Baber, U, Ballantyne, CM, Bang, LE, Benn, M, Bis, JC, Boehnke, M, Boerwinkle, E, Bork-Jensen, J, Bottinger, EP, Brandslund, I, Brown, M, Busonero, F, Caulfield, MJ, Chambers, JC, Chasman, DI, Chen, YE, Chen, YI, Chowdhury, R, Christensen, C, Chu, AY, Connell, JM, Cucca, F, Cupples, LA, Damrauer, SM, Davies, G, Deary, IJ, Dedoussis, G, Denny, JC, Dominiczak, A, Dubé, MP, Ebeling, T, Eiriksdottir, G, Esko, T, Farmaki, AE, Feitosa, MF, Ferrario, M, Ferrieres, J, Ford, I, Fornage, M, Franks, PW, Frayling, TM, Frikke-Schmidt, R, Fritsche, LG, Frossard, P, Fuster, V, Ganesh, SK, Gao, W, Garcia, ME, Gieger, C, Giulianini, F, Goodarzi, MO, Grallert, H, Grarup, N, Groop, L, Grove, ML, Gudnason, V, Hansen, T, Harris, TB, Hayward, C, Hirschhorn, JN, Holmen, OL, Huffman, J, Huo, Y, Hveem, K, Jabeen, S, Jackson, AU, Jakobsdottir, J, Jarvelin, MR, Jensen, GB, Jørgensen, ME, Jukema, JW, Justesen, JM, Kamstrup, PR, Kanoni, S, Karpe, F, Kee, F, Khera, AV, Klarin, D, Koistinen, HA, Kooner, JS, Kooperberg, C, Kuulasmaa, K, Kuusisto, J, Laakso, M, Lakka, T, Langenberg, C, Langsted, A, Launer, LJ, Lauritzen, T, Liewald, DCM, Lin, LA, Linneberg, A, Loos, RJF, Lu, Y, Lu, X, Mägi, R, Malarstig, A, Manichaikul, A, Manning, AK, Mäntyselkä, P, Marouli, E, Masca, NGD, Maschio, A, Meigs, JB, Melander, O, Metspalu, A, Morris, AP, Morrison, AC, Mulas, A, Müller-Nurasyid, M, Munroe, PB, Neville, MJ, Nielsen, JB, Nielsen, SF, Nordestgaard, BG, Ordovas, JM, Mehran, R, O'Donnell, CJ, Orho-Melander, M, Molony, CM, Muntendam, P, Padmanabhan, S, Palmer, CNA, Pasko, D, Patel, AP, Pedersen, O, Perola, M, Peters, A, Pisinger, C, Pistis, G, Polasek, O, Poulter, N, Psaty, BM, Rader, DJ, Rasheed, A, Rauramaa, R, Reilly, DF, Reiner, AP, Renström, F, Rich, SS, Ridker, PM, Rioux, JD, Robertson, NR, Roden, DM, Rotter, JI, Rudan, I, Salomaa, V, Samani, NJ, Sanna, S, Sattar, N, Schmidt, EM, Scott, RA, Sever, P, Sevilla, RS, Shaffer, CM, Sim, X, Sivapalaratnam, S, Small, KS, Smith, AV, Smith, BH, Somayajula, S, Southam, L, Spector, TD, Speliotes, EK, Starr, JM, Stirrups, KE, Stitziel, N, Strauch, K, Stringham, HM, Surendran, P, Tada, H, Tall, AR, Tang, H, Tardif, JC, Taylor, KD, Trompet, S, Tsao, PS, Tuomilehto, J, Tybjaerg-Hansen, A, van Zuydam, NR, Varbo, A, Varga, TV, Virtamo, J, Waldenberger, M, Wang, N, Wareham, NJ, Warren, HR, Weeke, PE, Weinstock, J, Wessel, J, Wilson, JG, Wilson, PWF, Xu, M, Yaghootkar, H, Young, R, Zeggini, E, Zhang, H, Zheng, NS, Zhang, W, Zhang, Y, Zhou, W, Zhou, Y, Zoledziewska, M, Howson, JMM, Danesh, J, McCarthy, MI, Cowan, CA, Abecasis, G, Deloukas, P, Musunuru, K, Willer, CJ, Kathiresan, S