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
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: CETP: 1168G>C; Ala390Pro; rs5880
Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study.
Plos Genetics
Gormley, Mark M; Yarmolinsky, James J; Dudding, Tom T; Burrows, Kimberley K; Martin, Richard M RM; Thomas, Steven S; Tyrrell, Jessica J; Brennan, Paul P; Pring, Miranda M; Boccia, Stefania S; Olshan, Andrew F AF; Diergaarde, Brenda B; Hung, Rayjean J RJ; Liu, Geoffrey G; Legge, Danny D; Tajara, Eloiza H EH; Severino, Patricia P; Lacko, Martin M; Ness, Andrew R AR; Davey Smith, George G; Vincent, Emma E EE; Richmond, Rebecca C RC
Review of Recent Microwave Planar Resonator-Based Sensors: Techniques of Complex Permittivity Extraction, Applications, Open Challenges and Future Research Directions.
Sensors (Basel, Switzerland)
Alahnomi, Rammah Ali RA; Zakaria, Zahriladha Z; Yussof, Zulkalnain Mohd ZM; Althuwayb, Ayman Abdulhadi AA; Alhegazi, Ammar A; Alsariera, Hussein H; Rahman, Norhanani Abd NA
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: CETP: 1168G>C; A390P; rs5880
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
Publication Date: 2020-02-10
Variant appearance in text: CETP: 1168G>C; Ala390Pro
Logic Regression Analysis of Gene Polymorphisms and HDL Levels in a Nationally Representative Sample of Iranian Adolescents: The CASPIAN-III Study.
International Journal Of Endocrinology And Metabolism
Moghadasi, Mehri M; Kelishadi, Roya R; Marateb, Hamid Reza HR; Haghjooy Javanmard, Shaghayegh S; Mansourian, Marjan M; Heshmat, Ramin R; Esmaeil Motlagh, Mohammad M
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
CETP genetic variant rs1800777 (allele A) is associated with abnormally low HDL-C levels and increased risk of AKI during sepsis.
Scientific Reports
Genga, Kelly Roveran KR; Trinder, Mark M; Kong, HyeJin Julia HJ; Li, Xuan X; Leung, Alex K K AKK; Shimada, Tadanaga T; Walley, Keith R KR; Russell, James A JA; Francis, Gordon A GA; Brunham, Liam R LR; Boyd, John H JH
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.
Alzheimer'S & Dementia (Amsterdam, Netherlands)
Peloso, Gina M GM; van der Lee, Sven J SJ; , ; Destefano, Anita L AL; Seshardi, Sudha S
Publication Date: 2018
Variant appearance in text: CETP: ALA390PRO; rs5880
Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.
Computational And Structural Biotechnology Journal
Marateb, Hamid R HR; Mohebian, Mohammad Reza MR; Javanmard, Shaghayegh Haghjooy SH; Tavallaei, Amir Ali AA; Tajadini, Mohammad Hasan MH; Heidari-Beni, Motahar M; Mañanas, Miguel Angel MA; Motlagh, Mohammad Esmaeil ME; Heshmat, Ramin R; Mansourian, Marjan M; Kelishadi, Roya R
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
Publication Date: 2018-07
Variant appearance in text: CETP: Ala390Pro; rs5880
Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C.
Npj Aging And Mechanisms Of Disease
van Leeuwen, Elisabeth M EM; Huffman, Jennifer E JE; Bis, Joshua C JC; Isaacs, Aaron A; Mulder, Monique M; Sabo, Aniko A; Smith, Albert V AV; Demissie, Serkalem S; Manichaikul, Ani A; Brody, Jennifer A JA; Feitosa, Mary F MF; Duan, Qing Q; Schraut, Katharina E KE; Navarro, Pau P; van Vliet-Ostaptchouk, Jana V JV; Zhu, Gu G; Mbarek, Hamdi H; Trompet, Stella S; Verweij, Niek N; Lyytikäinen, Leo-Pekka LP; Deelen, Joris J; Nolte, Ilja M IM; van der Laan, Sander W SW; Davies, Gail G; Vermeij-Verdoold, Andrea Jm AJ; van Oosterhout, Andy Alj AA; Vergeer-Drop, Jeannette M JM; Arking, Dan E DE; Trochet, Holly H; , ; Medina-Gomez, Carolina C; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Dehghan, Abbas A; Franco, Oscar H OH; Sijbrands, Eric J EJ; Hofman, Albert A; White, Charles C CC; Mychaleckyj, Josyf C JC; Peloso, Gina M GM; Swertz, Morris A MA; , ; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda Wjh BW; Ford, Ian I; Buckley, Brendan M BM; de Craen, Anton Jm AJ; Starr, John M JM; Deary, Ian J IJ; Pasterkamp, Gerard G; Oldehinkel, Albertine J AJ; Snieder, Harold H; Slagboom, P Eline PE; Nikus, Kjell K; Kähönen, Mika M; Lehtimäki, Terho T; Viikari, Jorma S JS; Raitakari, Olli T OT; van der Harst, Pim P; Jukema, J Wouter JW; Hottenga, Jouke-Jan JJ; Boomsma, Dorret I DI; Whitfield, John B JB; Montgomery, Grant G; Martin, Nicholas G NG; , ; Polasek, Ozren O; Vitart, Veronique V; Hayward, Caroline C; Kolcic, Ivana I; Wright, Alan F AF; Rudan, Igor I; Joshi, Peter K PK; Wilson, James F JF; Lange, Leslie A LA; Wilson, James G JG; Gudnason, Vilmundur V; Harris, Tamar B TB; Morrison, Alanna C AC; Borecki, Ingrid B IB; Rich, Stephen S SS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Rotter, Jerome I JI; Smith, Blair H BH; Boerwinkle, Eric E; Cupples, L Adrienne LA; van Duijn, Cornelia C
Genetic variants in CETP increase risk of intracerebral hemorrhage.
Annals Of Neurology
Anderson, Christopher D CD; Falcone, Guido J GJ; Phuah, Chia-Ling CL; Radmanesh, Farid F; Brouwers, H Bart HB; Battey, Thomas W K TW; Biffi, Alessandro A; Peloso, Gina M GM; Liu, Dajiang J DJ; Ayres, Alison M AM; Goldstein, Joshua N JN; Viswanathan, Anand A; Greenberg, Steven M SM; Selim, Magdy M; Meschia, James F JF; Brown, Devin L DL; Worrall, Bradford B BB; Silliman, Scott L SL; Tirschwell, David L DL; Flaherty, Matthew L ML; Kraft, Peter P; Jagiella, Jeremiasz M JM; Schmidt, Helena H; Hansen, Björn M BM; Jimenez-Conde, Jordi J; Giralt-Steinhauer, Eva E; Elosua, Roberto R; Cuadrado-Godia, Elisa E; Soriano, Carolina C; van Nieuwenhuizen, Koen M KM; Klijn, Catharina J M CJ; Rannikmae, Kristiina K; Samarasekera, Neshika N; Al-Shahi Salman, Rustam R; Sudlow, Catherine L CL; Deary, Ian J IJ; Morotti, Andrea A; Pezzini, Alessandro A; Pera, Joanna J; Urbanik, Andrzej A; Pichler, Alexander A; Enzinger, Christian C; Norrving, Bo B; Montaner, Joan J; Fernandez-Cadenas, Israel I; Delgado, Pilar P; Roquer, Jaume J; Lindgren, Arne A; Slowik, Agnieszka A; Schmidt, Reinhold R; Kidwell, Chelsea S CS; Kittner, Steven J SJ; Waddy, Salina P SP; Langefeld, Carl D CD; Abecasis, Goncalo G; Willer, Cristen J CJ; Kathiresan, Sekar S; Woo, Daniel D; Rosand, Jonathan J; ,
Analysis with the exome array identifies multiple new independent variants in lipid loci.
Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
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
Interaction of cholesterol ester transfer protein polymorphisms, body mass index, and birth weight with the risk of dyslipidemia in children and adolescents: the CASPIAN-III study.
Iranian Journal Of Basic Medical Sciences
Heidari-Beni, Motahar M; Kelishadi, Roya R; Mansourian, Marjan M; Askari, Gholamreza G
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
Assessment of established HDL-C loci for association with HDL-C levels and type 2 diabetes in Pima Indians.
Diabetologia
Nair, Anup K AK; Piaggi, Paolo P; McLean, Nellie A NA; Kaur, Manmeet M; Kobes, Sayuko S; Knowler, William C WC; Bogardus, Clifton C; Hanson, Robert L RL; Baier, Leslie J LJ
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
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
Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.
The West Virginia Medical Journal
Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
Nature Communications
Ko, Arthur A; Cantor, Rita M RM; Weissglas-Volkov, Daphna D; Nikkola, Elina E; Reddy, Prasad M V Linga PM; Sinsheimer, Janet S JS; Pasaniuc, Bogdan B; Brown, Robert R; Alvarez, Marcus M; Rodriguez, Alejandra A; Rodriguez-Guillen, Rosario R; Bautista, Ivette C IC; Arellano-Campos, Olimpia O; Muñoz-Hernández, Linda L LL; Salomaa, Veikko V; Kaprio, Jaakko J; Jula, Antti A; Jauhiainen, Matti M; Heliövaara, Markku M; Raitakari, Olli O; Lehtimäki, Terho T; Eriksson, Johan G JG; Perola, Markus M; Lohmueller, Kirk E KE; Matikainen, Niina N; Taskinen, Marja-Riitta MR; Rodriguez-Torres, Maribel M; Riba, Laura L; Tusie-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Pajukanta, Päivi P
Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.
Genetic Epidemiology
Hellwege, Jacklyn N JN; Palmer, Nicholette D ND; Raffield, Laura M LM; Ng, Maggie C Y MC; Hawkins, Gregory A GA; Long, Jirong J; Lorenzo, Carlos C; Norris, Jill M JM; Ida Chen, Y-D YD; Speliotes, Elizabeth K EK; Rotter, Jerome I JI; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Bowden, Donald W DW