A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Nature Communications
Timpson, Nicholas J NJ; Walter, Klaudia K; Min, Josine L JL; Tachmazidou, Ioanna I; Malerba, Giovanni G; Shin, So-Youn SY; Chen, Lu L; Futema, Marta M; Southam, Lorraine L; Iotchkova, Valentina V; Cocca, Massimiliano M; Huang, Jie J; Memari, Yasin Y; McCarthy, Shane S; Danecek, Petr P; Muddyman, Dawn D; Mangino, Massimo M; Menni, Cristina C; Perry, John R B JR; Ring, Susan M SM; Gaye, Amadou A; Dedoussis, George G; Farmaki, Aliki-Eleni AE; Burton, Paul P; Talmud, Philippa J PJ; Gambaro, Giovanni G; Spector, Tim D TD; Smith, George Davey GD; Durbin, Richard R; Richards, J Brent JB; Humphries, Steve E SE; Zeggini, Eleftheria E; Soranzo, Nicole N; , ; ,
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.
American Journal Of Human Genetics
Rosenthal, Elisabeth A EA; Ranchalis, Jane J; Crosslin, David R DR; Burt, Amber A; Brunzell, John D JD; Motulsky, Arno G AG; Nickerson, Deborah A DA; , ; Wijsman, Ellen M EM; Jarvik, Gail P GP
An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia.
Arteriosclerosis, Thrombosis, And Vascular Biology
Johansen, Christopher T CT; Wang, Jian J; Lanktree, Matthew B MB; McIntyre, Adam D AD; Ban, Matthew R MR; Martins, Rebecca A RA; Kennedy, Brooke A BA; Hassell, Reina G RG; Visser, Maartje E ME; Schwartz, Stephen M SM; Voight, Benjamin F BF; Elosua, Roberto R; Salomaa, Veikko V; O'Donnell, Christopher J CJ; Dallinga-Thie, Geesje M GM; Anand, Sonia S SS; Yusuf, Salim S; Huff, Murray W MW; Kathiresan, Sekar S; Cao, Henian H; Hegele, Robert A RA
Biological, clinical and population relevance of 95 loci for blood lipids.
Nature
Teslovich, Tanya M TM; Musunuru, Kiran K; Smith, Albert V AV; Edmondson, Andrew C AC; Stylianou, Ioannis M IM; Koseki, Masahiro M; Pirruccello, James P JP; Ripatti, Samuli S; Chasman, Daniel I DI; Willer, Cristen J CJ; Johansen, Christopher T CT; Fouchier, Sigrid W SW; Isaacs, Aaron A; Peloso, Gina M GM; Barbalic, Maja M; Ricketts, Sally L SL; Bis, Joshua C JC; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; Feitosa, Mary F MF; Chambers, John J; Orho-Melander, Marju M; Melander, Olle O; Johnson, Toby T; Li, Xiaohui X; Guo, Xiuqing X; Li, Mingyao M; Shin Cho, Yoon Y; Jin Go, Min M; Jin Kim, Young Y; Lee, Jong-Young JY; Park, Taesung T; Kim, Kyunga K; Sim, Xueling X; Twee-Hee Ong, Rick R; Croteau-Chonka, Damien C DC; Lange, Leslie A LA; Smith, Joshua D JD; Song, Kijoung K; Hua Zhao, Jing J; Yuan, Xin X; Luan, Jian'an J; Lamina, Claudia C; Ziegler, Andreas A; Zhang, Weihua W; Zee, Robert Y L RY; Wright, Alan F AF; Witteman, Jacqueline C M JC; Wilson, James F JF; Willemsen, Gonneke G; Wichmann, H-Erich HE; Whitfield, John B JB; Waterworth, Dawn M DM; Wareham, Nicholas J NJ; Waeber, Gérard G; Vollenweider, Peter P; Voight, Benjamin F BF; Vitart, Veronique V; Uitterlinden, Andre G AG; Uda, Manuela M; Tuomilehto, Jaakko J; Thompson, John R JR; Tanaka, Toshiko T; Surakka, Ida I; Stringham, Heather M HM; Spector, Tim D TD; Soranzo, Nicole N; Smit, Johannes H JH; Sinisalo, Juha J; Silander, Kaisa K; Sijbrands, Eric J G EJ; Scuteri, Angelo A; Scott, James J; Schlessinger, David D; Sanna, Serena S; Salomaa, Veikko V; Saharinen, Juha J; Sabatti, Chiara C; Ruokonen, Aimo A; Rudan, Igor I; Rose, Lynda M LM; Roberts, Robert R; Rieder, Mark M; Psaty, Bruce M BM; Pramstaller, Peter P PP; Pichler, Irene I; Perola, Markus M; Penninx, Brenda W J H BW; Pedersen, Nancy L NL; Pattaro, Cristian C; Parker, Alex N AN; Pare, Guillaume G; Oostra, Ben A BA; O'Donnell, Christopher J CJ; Nieminen, Markku S MS; Nickerson, Deborah A DA; Montgomery, Grant W GW; Meitinger, Thomas T; McPherson, Ruth R; McCarthy, Mark I MI; McArdle, Wendy W; Masson, David D; Martin, Nicholas G NG; Marroni, Fabio F; Mangino, Massimo M; Magnusson, Patrik K E PK; Lucas, Gavin G; Luben, Robert R; Loos, Ruth J F RJ; Lokki, Marja-Liisa ML; Lettre, Guillaume G; Langenberg, Claudia C; Launer, Lenore J LJ; Lakatta, Edward G EG; Laaksonen, Reijo R; Kyvik, Kirsten O KO; Kronenberg, Florian F; König, Inke R IR; Khaw, Kay-Tee KT; Kaprio, Jaakko J; Kaplan, Lee M LM; Johansson, Asa A; Jarvelin, Marjo-Riitta MR; Janssens, A Cecile J W AC; Ingelsson, Erik E; Igl, Wilmar W; Kees Hovingh, G G; Hottenga, Jouke-Jan JJ; Hofman, Albert A; Hicks, Andrew A AA; Hengstenberg, Christian C; Heid, Iris M IM; Hayward, Caroline C; Havulinna, Aki S AS; Hastie, Nicholas D ND; Harris, Tamara B TB; Haritunians, Talin T; Hall, Alistair S AS; Gyllensten, Ulf U; Guiducci, Candace C; Groop, Leif C LC; Gonzalez, Elena E; Gieger, Christian C; Freimer, Nelson B NB; Ferrucci, Luigi L; Erdmann, Jeanette J; Elliott, Paul P; Ejebe, Kenechi G KG; Döring, Angela A; Dominiczak, Anna F AF; Demissie, Serkalem S; Deloukas, Panagiotis P; de Geus, Eco J C EJ; de Faire, Ulf U; Crawford, Gabriel G; Collins, Francis S FS; Chen, Yii-der I YD; Caulfield, Mark J MJ; Campbell, Harry H; Burtt, Noel P NP; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Boekholdt, S Matthijs SM; Bergman, Richard N RN; Barroso, Inês I; Bandinelli, Stefania S; Ballantyne, Christie M CM; Assimes, Themistocles L TL; Quertermous, Thomas T; Altshuler, David D; Seielstad, Mark M; Wong, Tien Y TY; Tai, E-Shyong ES; Feranil, Alan B AB; Kuzawa, Christopher W CW; Adair, Linda S LS; Taylor, Herman A HA; Borecki, Ingrid B IB; Gabriel, Stacey B SB; Wilson, James G JG; Holm, Hilma H; Thorsteinsdottir, Unnur U; Gudnason, Vilmundur V; Krauss, Ronald M RM; Mohlke, Karen L KL; Ordovas, Jose M JM; Munroe, Patricia B PB; Kooner, Jaspal S JS; Tall, Alan R AR; Hegele, Robert A RA; Kastelein, John J P JJ; Schadt, Eric E EE; Rotter, Jerome I JI; Boerwinkle, Eric E; Strachan, David P DP; Mooser, Vincent V; Stefansson, Kari K; Reilly, Muredach P MP; Samani, Nilesh J NJ; Schunkert, Heribert H; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Ridker, Paul M PM; Rader, Daniel J DJ; van Duijn, Cornelia M CM; Peltonen, Leena L; Abecasis, Gonçalo R GR; Boehnke, Michael M; Kathiresan, Sekar S
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
American Journal Of Human Genetics
Uhlenberg, Birgit B; Schuelke, Markus M; Rüschendorf, Franz F; Ruf, Nico N; Kaindl, Angela M AM; Henneke, Marco M; Thiele, Holger H; Stoltenburg-Didinger, Gisela G; Aksu, Fuat F; Topaloğlu, Haluk H; Nürnberg, Peter P; Hübner, Christoph C; Weschke, Bernhard B; Gärtner, Jutta J