Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.
Nature Genetics
Aragam, Krishna G KG; Jiang, Tao T; Goel, Anuj A; Kanoni, Stavroula S; Wolford, Brooke N BN; Atri, Deepak S DS; Weeks, Elle M EM; Wang, Minxian M; Hindy, George G; Zhou, Wei W; Grace, Christopher C; Roselli, Carolina C; Marston, Nicholas A NA; Kamanu, Frederick K FK; Surakka, Ida I; Venegas, Loreto Muñoz LM; Sherliker, Paul P; Koyama, Satoshi S; Ishigaki, Kazuyoshi K; Åsvold, Bjørn O BO; Brown, Michael R MR; Brumpton, Ben B; de Vries, Paul S PS; Giannakopoulou, Olga O; Giardoglou, Panagiota P; Gudbjartsson, Daniel F DF; Güldener, Ulrich U; Haider, Syed M Ijlal SMI; Helgadottir, Anna A; Ibrahim, Maysson M; Kastrati, Adnan A; Kessler, Thorsten T; Kyriakou, Theodosios T; Konopka, Tomasz T; Li, Ling L; Ma, Lijiang L; Meitinger, Thomas T; Mucha, Sören S; Munz, Matthias M; Murgia, Federico F; Nielsen, Jonas B JB; Nöthen, Markus M MM; Pang, Shichao S; Reinberger, Tobias T; Schnitzler, Gavin G; Smedley, Damian D; Thorleifsson, Gudmar G; von Scheidt, Moritz M; Ulirsch, Jacob C JC; , ; , ; Arnar, David O DO; Burtt, Noël P NP; Costanzo, Maria C MC; Flannick, Jason J; Ito, Kaoru K; Jang, Dong-Keun DK; Kamatani, Yoichiro Y; Khera, Amit V AV; Komuro, Issei I; Kullo, Iftikhar J IJ; Lotta, Luca A LA; Nelson, Christopher P CP; Roberts, Robert R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Webb, Thomas R TR; Baras, Aris A; Björkegren, Johan L M JLM; Boerwinkle, Eric E; Dedoussis, George G; Holm, Hilma H; Hveem, Kristian K; Melander, Olle O; Morrison, Alanna C AC; Orho-Melander, Marju M; Rallidis, Loukianos S LS; Ruusalepp, Arno A; Sabatine, Marc S MS; Stefansson, Kari K; Zalloua, Pierre P; Ellinor, Patrick T PT; Farrall, Martin M; Danesh, John J; Ruff, Christian T CT; Finucane, Hilary K HK; Hopewell, Jemma C JC; Clarke, Robert R; Gupta, Rajat M RM; Erdmann, Jeanette J; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; Willer, Cristen J CJ; Deloukas, Panos P; Kathiresan, Sekar S; Butterworth, Adam S AS; ,
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Nature Communications
Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study.
International Journal Of Endocrinology And Metabolism
Daneshpour, Maryam S MS; Hedayati, Mehdi M; Sedaghati-Khayat, Bahareh B; Guity, Kamran K; Zarkesh, Maryam M; Akbarzadeh, Mahdi M; Javanrooh, Niloofar N; Zadeh-Vakili, Azita A; Azizi, Fereidoun F
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
European Journal Of Human Genetics : Ejhg
Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ
Publication Date: 2017-04
Variant appearance in text: LDLR: 2140+5G>A; rs72658867
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
The UK10K project identifies rare variants in health and disease.
Nature
, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E