Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.
Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
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
Association of RS708272 (CETP Gene Variant) with Lipid Profile Parameters and the Risk of Myocardial Infarction in the White Population of Western Siberia.
Biomolecules
Semaev, Sergey S; Shakhtshneider, Elena E; Orlov, Pavel P; Ivanoshchuk, Dinara D; Malyutina, Sophia S; Gafarov, Valery V; Ragino, Yuliya Y; Voevoda, Mikhail M
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Nature Communications
Natarajan, Pradeep P; Peloso, Gina M GM; Zekavat, Seyedeh Maryam SM; Montasser, May M; Ganna, Andrea A; Chaffin, Mark M; Khera, Amit V AV; Zhou, Wei W; Bloom, Jonathan M JM; Engreitz, Jesse M JM; Ernst, Jason J; O'Connell, Jeffrey R JR; Ruotsalainen, Sanni E SE; Alver, Maris M; Manichaikul, Ani A; Johnson, W Craig WC; Perry, James A JA; Poterba, Timothy T; Seed, Cotton C; Surakka, Ida L IL; Esko, Tonu T; Ripatti, Samuli S; Salomaa, Veikko V; Correa, Adolfo A; Vasan, Ramachandran S RS; Kellis, Manolis M; Neale, Benjamin M BM; Lander, Eric S ES; Abecasis, Goncalo G; Mitchell, Braxton B; Rich, Stephen S SS; Wilson, James G JG; Cupples, L Adrienne LA; Rotter, Jerome I JI; Willer, Cristen J CJ; Kathiresan, Sekar S; ,
Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.
Circulation. Genomic And Precision Medicine
Khetarpal, Sumeet A SA; Babb, Paul L PL; Zhao, Wei W; Hancock-Cerutti, William F WF; Brown, Christopher D CD; Rader, Daniel J DJ; Voight, Benjamin F BF
Sex Differences in Blood HDL-c, the Total Cholesterol/HDL-c Ratio, and Palmitoleic Acid are Not Associated with Variants in Common Candidate Genes.
Lipids
Klingel, Shannon L SL; Roke, Kaitlin K; Hidalgo, Bertha B; Aslibekyan, Stella S; Straka, Robert J RJ; An, Ping P; Province, Michael A MA; Hopkins, Paul N PN; Arnett, Donna K DK; Ordovas, Jose M JM; Lai, Chao-Qiang CQ; Mutch, David M DM
Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.
Bmc Geriatrics
Druley, Todd E TE; Wang, Lihua L; Lin, Shiow J SJ; Lee, Joseph H JH; Zhang, Qunyuan Q; Daw, E Warwick EW; Abel, Haley J HJ; Chasnoff, Sara E SE; Ramos, Enrique I EI; Levinson, Benjamin T BT; Thyagarajan, Bharat B; Newman, Anne B AB; Christensen, Kaare K; Mayeux, Richard R; Province, Michael A MA
Resequencing of the CETP gene in American whites and African blacks: Association of rare and common variants with HDL-cholesterol levels.
Metabolism: Clinical And Experimental
Pirim, Dilek D; Wang, Xingbin X; Niemsiri, Vipavee V; Radwan, Zaheda H ZH; Bunker, Clareann H CH; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Plos Genetics
Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ
Pharmacogenetics in cardiovascular disease: the challenge of moving from promise to realization: concepts discussed at the Canadian Network and Centre for Trials Internationally Network Conference (CANNeCTIN), June 2009.
Clinical Cardiology
Joseph, Philip G PG; Pare, Guillaume G; Ross, Stephanie S; Roberts, Robert R; Anand, Sonia S SS
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.
Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.
Plos One
Tietjen, Ian I; Hovingh, G Kees GK; Singaraja, Roshni R RR; Radomski, Chris C; Barhdadi, Amina A; McEwen, Jason J; Chan, Elden E; Mattice, Maryanne M; Legendre, Annick A; Franchini, Patrick L PL; Dubé, Marie-Pierre MP; Kastelein, John J P JJ; Hayden, Michael R MR
Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
Plos One
Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ
Cholesteryl Ester Transfer Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk.
Plos One
Papp, Audrey C AC; Pinsonneault, Julia K JK; Wang, Danxin D; Newman, Leslie C LC; Gong, Yan Y; Johnson, Julie A JA; Pepine, Carl J CJ; Kumari, Meena M; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Shah, Sonia S; Humphries, Steve E SE; Sadee, Wolfgang W
Evidence from case-control and longitudinal studies supports associations of genetic variation in APOE, CETP, and IL6 with human longevity.
Age (Dordrecht, Netherlands)
Soerensen, Mette M; Dato, Serena S; Tan, Qihua Q; Thinggaard, Mikael M; Kleindorp, Rabea R; Beekman, Marian M; Suchiman, H Eka D HE; Jacobsen, Rune R; McGue, Matt M; Stevnsner, Tinna T; Bohr, Vilhelm A VA; de Craen, Anton J M AJ; Westendorp, Rudi G J RG; Schreiber, Stefan S; Slagboom, P Eline PE; Nebel, Almut A; Vaupel, James W JW; Christensen, Kaare K; Christiansen, Lene L
Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.
Journal Of Clinical & Experimental Cardiology
Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL
Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.
Circulation. Cardiovascular Genetics
Edmondson, Andrew C AC; Braund, Peter S PS; Stylianou, Ioannis M IM; Khera, Amit V AV; Nelson, Christopher P CP; Wolfe, Megan L ML; Derohannessian, Stephanie L SL; Keating, Brendan J BJ; Qu, Liming L; He, Jing J; Tobin, Martin D MD; Tomaszewski, Maciej M; Baumert, Jens J; Klopp, Norman N; Döring, Angela A; Thorand, Barbara B; Li, Mingyao M; Reilly, Muredach P MP; Koenig, Wolfgang W; Samani, Nilesh J NJ; Rader, Daniel J DJ
Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study.
Circulation. Cardiovascular Genetics
Ridker, Paul M PM; Paré, Guillaume G; Parker, Alex N AN; Zee, Robert Y L RY; Miletich, Joseph P JP; Chasman, Daniel I DI
Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke.
Pharmacogenetics And Genomics
Hindorff, Lucia A LA; Lemaitre, Rozenn N RN; Smith, Nicholas L NL; Bis, Joshua C JC; Marciante, Kristin D KD; Rice, Kenneth M KM; Lumley, Thomas T; Enquobahrie, Daniel A DA; Li, Guo G; Heckbert, Susan R SR; Psaty, Bruce M BM
Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke.
The American Journal Of Cardiology
Enquobahrie, Daniel A DA; Smith, Nicholas L NL; Bis, Joshua C JC; Carty, Cara L CL; Rice, Kenneth M KM; Lumley, Thomas T; Hindorff, Lucia A LA; Lemaitre, Rozenn N RN; Williams, Michelle A MA; Siscovick, David S DS; Heckbert, Susan R SR; Psaty, Bruce M BM
Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.
Nutrition & Metabolism
Ruaño, Gualberto G; Windemuth, Andreas A; Kocherla, Mohan M; Holford, Theodore T; Fernandez, Maria Luz ML; Forsythe, Cassandra E CE; Wood, Richard J RJ; Kraemer, William J WJ; Volek, Jeff S JS
High-throughput MALDI-TOF discovery of genomic sequence polymorphisms.
Genome Research
Stanssens, Patrick P; Zabeau, Marc M; Meersseman, Geert G; Remes, Gwen G; Gansemans, Yannick Y; Storm, Niels N; Hartmer, Ralf R; Honisch, Christiane C; Rodi, Charles P CP; Böcker, Sebastian S; van den Boom, Dirk D