Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
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: PRKAG1: 266C>G; T89S; rs1126930
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
Nature Genetics
Surendran, Praveen P; Feofanova, Elena V EV; Lahrouchi, Najim N; Ntalla, Ioanna I; Karthikeyan, Savita S; Cook, James J; Chen, Lingyan L; Mifsud, Borbala B; Yao, Chen C; Kraja, Aldi T AT; Cartwright, James H JH; Hellwege, Jacklyn N JN; Giri, Ayush A; Tragante, Vinicius V; Thorleifsson, Gudmar G; Liu, Dajiang J DJ; Prins, Bram P BP; Stewart, Isobel D ID; Cabrera, Claudia P CP; Eales, James M JM; Akbarov, Artur A; Auer, Paul L PL; Bielak, Lawrence F LF; Bis, Joshua C JC; Braithwaite, Vickie S VS; Brody, Jennifer A JA; Daw, E Warwick EW; Warren, Helen R HR; Drenos, Fotios F; Nielsen, Sune Fallgaard SF; Faul, Jessica D JD; Fauman, Eric B EB; Fava, Cristiano C; Ferreira, Teresa T; Foley, Christopher N CN; Franceschini, Nora N; Gao, He H; Giannakopoulou, Olga O; Giulianini, Franco F; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Harris, Sarah E SE; Havulinna, Aki S AS; Helgadottir, Anna A; Huffman, Jennifer E JE; Hwang, Shih-Jen SJ; Kanoni, Stavroula S; Kontto, Jukka J; Larson, Martin G MG; Li-Gao, Ruifang R; Lindström, Jaana J; Lotta, Luca A LA; Lu, Yingchang Y; Luan, Jian'an J; Mahajan, Anubha A; Malerba, Giovanni G; Masca, Nicholas G D NGD; Mei, Hao H; Menni, Cristina C; Mook-Kanamori, Dennis O DO; Mosen-Ansorena, David D; Müller-Nurasyid, Martina M; Paré, Guillaume G; Paul, Dirk S DS; Perola, Markus M; Poveda, Alaitz A; Rauramaa, Rainer R; Richard, Melissa M; Richardson, Tom G TG; Sepúlveda, Nuno N; Sim, Xueling X; Smith, Albert V AV; Smith, Jennifer A JA; Staley, James R JR; Stanáková, Alena A; Sulem, Patrick P; Thériault, Sébastien S; Thorsteinsdottir, Unnur U; Trompet, Stella S; Varga, Tibor V TV; Velez Edwards, Digna R DR; Veronesi, Giovanni G; Weiss, Stefan S; Willems, Sara M SM; Yao, Jie J; Young, Robin R; Yu, Bing B; Zhang, Weihua W; Zhao, Jing-Hua JH; Zhao, Wei W; Zhao, Wei W; Evangelou, Evangelos E; Aeschbacher, Stefanie S; Asllanaj, Eralda E; Blankenberg, Stefan S; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Brandslund, Ivan I; Braund, Peter S PS; Burgess, Stephen S; Cho, Kelly K; Christensen, Cramer C; Connell, John J; Mutsert, Renée de R; Dominiczak, Anna F AF; Dörr, Marcus M; Eiriksdottir, Gudny G; Farmaki, Aliki-Eleni AE; Gaziano, J Michael JM; Grarup, Niels N; Grove, Megan L ML; Hallmans, Göran G; Hansen, Torben T; Have, Christian T CT; Heiss, Gerardo G; Jørgensen, Marit E ME; Jousilahti, Pekka P; Kajantie, Eero E; Kamat, Mihir M; Käräjämäki, AnneMari A; Karpe, Fredrik F; Koistinen, Heikki A HA; Kovesdy, Csaba P CP; Kuulasmaa, Kari K; Laatikainen, Tiina T; Lannfelt, Lars L; Lee, I-Te IT; Lee, Wen-Jane WJ; , ; Linneberg, Allan A; Martin, Lisa W LW; Moitry, Marie M; Nadkarni, Girish G; Neville, Matt J MJ; Palmer, Colin N A CNA; Papanicolaou, George J GJ; Pedersen, Oluf O; Peters, James J; Poulter, Neil N; Rasheed, Asif A; Rasmussen, Katrine L KL; Rayner, N William NW; Mägi, Reedik R; Renström, Frida F; Rettig, Rainer R; Rossouw, Jacques J; Schreiner, Pamela J PJ; Sever, Peter S PS; Sigurdsson, Emil L EL; Skaaby, Tea T; Sun, Yan V YV; Sundstrom, Johan J; Thorgeirsson, Gudmundur G; Esko, Tõnu T; Trabetti, Elisabetta E; Tsao, Philip S PS; Tuomi, Tiinamaija T; Turner, Stephen T ST; Tzoulaki, Ioanna I; Vaartjes, Ilonca I; Vergnaud, Anne-Claire AC; Willer, Cristen J CJ; Wilson, Peter W F PWF; Witte, Daniel R DR; Yonova-Doing, Ekaterina E; Zhang, He H; Aliya, Naheed N; Almgren, Peter P; Amouyel, Philippe P; Asselbergs, Folkert W FW; Barnes, Michael R MR; Blakemore, Alexandra I AI; Boehnke, Michael M; Bots, Michiel L ML; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Conen, David D; Correa, Adolfo A; Davey Smith, George G; Boer, Rudolf A de RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Di Angelantonio, Emanuele E; Elliott, Paul P; , ; , ; Felix, Stephan B SB; Ferrières, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Franks, Stephen S; Frossard, Philippe P; Gambaro, Giovanni G; Gaunt, Tom R TR; Groop, Leif L; Gudnason, Vilmundur V; Harris, Tamara B TB; Hayward, Caroline C; Hennig, Branwen J BJ; Herzig, Karl-Heinz KH; Ingelsson, Erik E; Tuomilehto, Jaakko J; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kardia, Sharon L R SLR; Kee, Frank F; Kooner, Jaspal S JS; Kooperberg, Charles C; Launer, Lenore J LJ; Lind, Lars L; Loos, Ruth J F RJF; Majumder, Abdulla Al Shafi AAS; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Murray, Alison D AD; Nordestgaard, Børge Grønne BG; Orho-Melander, Marju M; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmas, Walter W; Polasek, Ozren O; Porteous, David J DJ; Prentice, Andrew M AM; Province, Michael A MA; Relton, Caroline L CL; Rice, Kenneth K; Ridker, Paul M PM; Rolandsson, Olov O; Rosendaal, Frits R FR; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sattar, Naveed N; Sheu, Wayne H-H WH; Smith, Blair H BH; Soranzo, Nicole N; Spector, Timothy D TD; Starr, John M JM; Sebert, Sylvain S; Taylor, Kent D KD; Lakka, Timo A TA; Timpson, Nicholas J NJ; Tobin, Martin D MD; , ; van der Harst, Pim P; van der Meer, Peter P; Ramachandran, Vasan S VS; Verweij, Niek N; Virtamo, Jarmo J; Völker, Uwe U; Weir, David R DR; Zeggini, Eleftheria E; Charchar, Fadi J FJ; , ; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tomaszewski, Maciej M; Butterworth, Adam S AS; Caulfield, Mark J MJ; Danesh, John J; Edwards, Todd L TL; Holm, Hilma H; Hung, Adriana M AM; Lindgren, Cecilia M CM; Liu, Chunyu C; Manning, Alisa K AK; Morris, Andrew P AP; Morrison, Alanna C AC; O'Donnell, Christopher J CJ; Psaty, Bruce M BM; Saleheen, Danish D; Stefansson, Kari K; Boerwinkle, Eric E; Chasman, Daniel I DI; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.
Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size.
Genes
Barbitoff, Yury A YA; Serebryakova, Elena A EA; Nasykhova, Yulia A YA; Predeus, Alexander V AV; Polev, Dmitrii E DE; Shuvalova, Anna R AR; Vasiliev, Evgenii V EV; Urazov, Stanislav P SP; Sarana, Andrey M AM; Scherbak, Sergey G SG; Gladyshev, Dmitrii V DV; Pokrovskaya, Maria S MS; Sivakova, Oksana V OV; Meshkov, Aleksey N AN; Drapkina, Oxana M OM; Glotov, Oleg S OS; Glotov, Andrey S AS
Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.
Plos One
Kim, Stuart K SK
Publication Date: 2018
Variant appearance in text: PRKAG1: T89S; rs1126930
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: PRKAG1: T89S; rs1126930
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature Genetics
Turcot, Valérie V; Lu, Yingchang Y; Highland, Heather M HM; Schurmann, Claudia C; Justice, Anne E AE; Fine, Rebecca S RS; Bradfield, Jonathan P JP; Esko, Tõnu T; Giri, Ayush A; Graff, Mariaelisa M; Guo, Xiuqing X; Hendricks, Audrey E AE; Karaderi, Tugce T; Lempradl, Adelheid A; Locke, Adam E AE; Mahajan, Anubha A; Marouli, Eirini E; Sivapalaratnam, Suthesh S; Young, Kristin L KL; Alfred, Tamuno T; Feitosa, Mary F MF; Masca, Nicholas G D NGD; Manning, Alisa K AK; Medina-Gomez, Carolina C; Mudgal, Poorva P; Ng, Maggie C Y MCY; Reiner, Alex P AP; Vedantam, Sailaja S; Willems, Sara M SM; Winkler, Thomas W TW; Abecasis, Gonçalo G; Aben, Katja K KK; Alam, Dewan S DS; Alharthi, Sameer E SE; Allison, Matthew M; Amouyel, Philippe P; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Bang, Lia E LE; Barroso, Inês I; Bastarache, Lisa L; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bots, Michiel L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Breen, Gerome G; Brilliant, Murray H MH; Broer, Linda L; Brumat, Marco M; Burt, Amber A AA; Butterworth, Adam S AS; Campbell, Peter T PT; Cappellani, Stefania S; Carey, David J DJ; Catamo, Eulalia E; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der I YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Cocca, Massimiliano M; Collins, Francis S FS; Cook, James P JP; Corley, Janie J; Corominas Galbany, Jordi J; Cox, Amanda J AJ; Crosslin, David S DS; Cuellar-Partida, Gabriel G; D'Eustacchio, Angela A; Danesh, John J; Davies, Gail G; Bakker, Paul I W PIW; Groot, Mark C H MCH; Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; Heijer, Martin M; Hollander, Anneke I AI; Ruijter, Hester M HM; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Edwards, Todd L TL; Ellinghaus, David D; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Farooqi, I Sadaf IS; Faul, Jessica D JD; Fauser, Sascha S; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franco, Oscar H OH; Franke, Andre A; Franks, Paul W PW; Friedrich, Nele N; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Gibson, Jane J; Giedraitis, Vilmantas V; Gjesing, Anette P AP; Gordon-Larsen, Penny P; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grant, Struan F A SFA; Grarup, Niels N; Griffiths, Helen L HL; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Haessler, Jeff J; Hakonarson, Hakon H; Hammerschlag, Anke R AR; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Have, Christian T CT; Hayward, Caroline C; He, Liang L; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Heid, Iris M IM; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Huang, Paul L PL; Huffman, Jennifer E JE; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jia, Yucheng Y; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jukema, J Wouter JW; Kahali, Bratati B; Kahn, René S RS; Kähönen, Mika M; Kamstrup, Pia R PR; Kanoni, Stavroula S; Kaprio, Jaakko J; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kathiresan, Sekar S; Kee, Frank F; Kiemeney, Lambertus A LA; Kim, Eric E; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kooperberg, Charles C; Korhonen, Tellervo T; Kovacs, Peter P; Kuivaniemi, Helena H; Kutalik, Zoltán Z; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Ethan M EM; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Keng-Hung KH; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Liu, Yongmei Y; Lo, Ken S KS; Lophatananon, Artitaya A; Lotery, Andrew J AJ; Loukola, Anu A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Männistö, Satu S; Marenne, Gaëlle G; Mazul, Angela L AL; McCarthy, Mark I MI; McKean-Cowdin, Roberta R; Medland, Sarah E SE; Meidtner, Karina K; Milani, Lili L; Mistry, Vanisha V; Mitchell, Paul P; Mohlke, Karen L KL; Moilanen, Leena L; Moitry, Marie M; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Moore, Carmel C; Mori, Trevor A TA; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Nyholt, Dale R DR; O'Connel, Jeffrey R JR; O'Donoghue, Michelle L ML; Olde Loohuis, Loes M LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pasterkamp, Gerard G; Patel, Aniruddh P AP; Pattie, Alison A; Pedersen, Oluf O; Peissig, Peggy L PL; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Person, Thomas N TN; Peters, Annette A; Petersen, Eva R B ERB; Peyser, Patricia A PA; Pirie, Ailith A; Polasek, Ozren O; Polderman, Tinca J TJ; Puolijoki, Hannu H; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Renström, Frida F; Rheinberger, Myriam M; Ridker, Paul M PM; Rioux, John D JD; Rivas, Manuel A MA; Roberts, David J DJ; Robertson, Neil R NR; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sapkota, Yadav Y; Sattar, Naveed N; Schoen, Robert E RE; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati H SH; Sheu, Wayne H-H WH; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Albert V AV; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swift, Amy J AJ; Tada, Hayato H; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Tromp, Gerard G; Trompet, Stella S; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; Tyrer, Jonathan P JP; Uher, Rudolf R; Uitterlinden, André G AG; Uusitupa, Matti M; Laan, Sander W SW; Duijn, Cornelia M CM; Leeuwen, Nienke N; van Setten, Jessica J; Vanhala, Mauno M; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Velez Edwards, Digna R DR; Vermeulen, Sita H SH; Veronesi, Giovanni G; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Völker, Uwe U; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Ware, Erin B EB; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Witte, Daniel R DR; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yao, Pang P; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zhao, Wei W; Zhou, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Pospisilik, John A JA; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; North, Kari E KE; Lindgren, Cecilia M CM; Hirschhorn, Joel N JN; Loos, Ruth J F RJF
Publication Date: 2018-01
Variant appearance in text: PRKAG1: 266C>G; Thr89Ser; rs1126930
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: PRKAG1: T89S; rs1126930
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Nature Genetics
Surendran, Praveen P; Drenos, Fotios F; Young, Robin R; Warren, Helen H; Cook, James P JP; Manning, Alisa K AK; Grarup, Niels N; Sim, Xueling X; Barnes, Daniel R DR; Witkowska, Kate K; Staley, James R JR; Tragante, Vinicius V; Tukiainen, Taru T; Yaghootkar, Hanieh H; Masca, Nicholas N; Freitag, Daniel F DF; Ferreira, Teresa T; Giannakopoulou, Olga O; Tinker, Andrew A; Harakalova, Magdalena M; Mihailov, Evelin E; Liu, Chunyu C; Kraja, Aldi T AT; Fallgaard Nielsen, Sune S; Rasheed, Asif A; Samuel, Maria M; Zhao, Wei W; Bonnycastle, Lori L LL; Jackson, Anne U AU; Narisu, Narisu N; Swift, Amy J AJ; Southam, Lorraine L; Marten, Jonathan J; Huyghe, Jeroen R JR; Stančáková, Alena A; Fava, Cristiano C; Ohlsson, Therese T; Matchan, Angela A; Stirrups, Kathleen E KE; Bork-Jensen, Jette J; Gjesing, Anette P AP; Kontto, Jukka J; Perola, Markus M; Shaw-Hawkins, Susan S; Havulinna, Aki S AS; Zhang, He H; Donnelly, Louise A LA; Groves, Christopher J CJ; Rayner, N William NW; Neville, Matt J MJ; Robertson, Neil R NR; Yiorkas, Andrianos M AM; Herzig, Karl-Heinz KH; Kajantie, Eero E; Zhang, Weihua W; Willems, Sara M SM; Lannfelt, Lars L; Malerba, Giovanni G; Soranzo, Nicole N; Trabetti, Elisabetta E; Verweij, Niek N; Evangelou, Evangelos E; Moayyeri, Alireza A; Vergnaud, Anne-Claire AC; Nelson, Christopher P CP; Poveda, Alaitz A; Varga, Tibor V TV; Caslake, Muriel M; de Craen, Anton Jm AJ; Trompet, Stella S; Luan, Jian'an J; Scott, Robert A RA; Harris, Sarah E SE; Liewald, David Cm DC; Marioni, Riccardo R; Menni, Cristina C; Farmaki, Aliki-Eleni AE; Hallmans, Göran G; Renström, Frida F; Huffman, Jennifer E JE; Hassinen, Maija M; Burgess, Stephen S; Vasan, Ramachandran S RS; Felix, Janine F JF; , ; Uria-Nickelsen, Maria M; Malarstig, Anders A; Reily, Dermot F DF; Hoek, Maarten M; Vogt, Thomas T; Lin, Honghuang H; Lieb, Wolfgang W; , ; Traylor, Matthew M; Markus, Hugh F HF; , ; Highland, Heather M HM; Justice, Anne E AE; Marouli, Eirini E; , ; Lindström, Jaana J; Uusitupa, Matti M; Komulainen, Pirjo P; Lakka, Timo A TA; Rauramaa, Rainer R; Polasek, Ozren O; Rudan, Igor I; Rolandsson, Olov O; Franks, Paul W PW; Dedoussis, George G; Spector, Timothy D TD; , ; Jousilahti, Pekka P; Männistö, Satu S; Deary, Ian J IJ; Starr, John M JM; Langenberg, Claudia C; Wareham, Nick J NJ; Brown, Morris J MJ; Dominiczak, Anna F AF; Connell, John M JM; Jukema, J Wouter JW; Sattar, Naveed N; Ford, Ian I; Packard, Chris J CJ; Esko, Tõnu T; Mägi, Reedik R; Metspalu, Andres A; de Boer, Rudolf A RA; van der Meer, Peter P; van der Harst, Pim P; , ; Gambaro, Giovanni G; Ingelsson, Erik E; Lind, Lars L; de Bakker, Paul Iw PI; Numans, Mattijs E ME; Brandslund, Ivan I; Christensen, Cramer C; Petersen, Eva Rb ER; Korpi-Hyövälti, Eeva E; Oksa, Heikki H; Chambers, John C JC; Kooner, Jaspal S JS; Blakemore, Alexandra If AI; Franks, Steve S; Jarvelin, Marjo-Riitta MR; Husemoen, Lise L LL; Linneberg, Allan A; Skaaby, Tea T; Thuesen, Betina B; Karpe, Fredrik F; Tuomilehto, Jaakko J; Doney, Alex Sf AS; Morris, Andrew D AD; Palmer, Colin Na CN; Holmen, Oddgeir Lingaas OL; Hveem, Kristian K; Willer, Cristen J CJ; Tuomi, Tiinamaija T; Groop, Leif L; Käräjämäki, AnneMari A; Palotie, Aarno A; Ripatti, Samuli S; Salomaa, Veikko V; Alam, Dewan S DS; Shafi Majumder, Abdulla Al AA; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; McCarthy, Mark I MI; Poulter, Neil N; Stanton, Alice V AV; Sever, Peter P; Amouyel, Philippe P; Arveiler, Dominique D; Blankenberg, Stefan S; Ferrières, Jean J; Kee, Frank F; Kuulasmaa, Kari K; Müller-Nurasyid, Martina M; Veronesi, Giovanni G; Virtamo, Jarmo J; Deloukas, Panos P; , ; Elliott, Paul P; , ; Zeggini, Eleftheria E; Kathiresan, Sekar S; Melander, Olle O; Kuusisto, Johanna J; Laakso, Markku M; Padmanabhan, Sandosh S; Porteous, David D; Hayward, Caroline C; Scotland, Generation G; Collins, Francis S FS; Mohlke, Karen L KL; Hansen, Torben T; Pedersen, Oluf O; Boehnke, Michael M; Stringham, Heather M HM; , ; Frossard, Philippe P; Newton-Cheh, Christopher C; , ; Tobin, Martin D MD; Nordestgaard, Børge Grønne BG; , ; , ; , ; , ; Caulfield, Mark J MJ; Mahajan, Anubha A; Morris, Andrew P AP; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Saleheen, Danish D; Asselbergs, Folkert W FW; Lindgren, Cecilia M CM; Danesh, John J; Wain, Louise V LV; Butterworth, Adam S AS; Howson, Joanna Mm JM; Munroe, Patricia B PB
Publication Date: 2016-10
Variant appearance in text: PRKAG1: T89S; rs1126930
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
Rare coding variants and X-linked loci associated with age at menarche.
Nature Communications
Lunetta, Kathryn L KL; Day, Felix R FR; Sulem, Patrick P; Ruth, Katherine S KS; Tung, Joyce Y JY; Hinds, David A DA; Esko, Tõnu T; Elks, Cathy E CE; Altmaier, Elisabeth E; He, Chunyan C; Huffman, Jennifer E JE; Mihailov, Evelin E; Porcu, Eleonora E; Robino, Antonietta A; Rose, Lynda M LM; Schick, Ursula M UM; Stolk, Lisette L; Teumer, Alexander A; Thompson, Deborah J DJ; Traglia, Michela M; Wang, Carol A CA; Yerges-Armstrong, Laura M LM; Antoniou, Antonis C AC; Barbieri, Caterina C; Coviello, Andrea D AD; Cucca, Francesco F; Demerath, Ellen W EW; Dunning, Alison M AM; Gandin, Ilaria I; Grove, Megan L ML; Gudbjartsson, Daniel F DF; Hocking, Lynne J LJ; Hofman, Albert A; Huang, Jinyan J; Jackson, Rebecca D RD; Karasik, David D; Kriebel, Jennifer J; Lange, Ethan M EM; Lange, Leslie A LA; Langenberg, Claudia C; Li, Xin X; Luan, Jian'an J; Mägi, Reedik R; Morrison, Alanna C AC; Padmanabhan, Sandosh S; Pirie, Ailith A; Polasek, Ozren O; Porteous, David D; Reiner, Alex P AP; Rivadeneira, Fernando F; Rudan, Igor I; Sala, Cinzia F CF; Schlessinger, David D; Scott, Robert A RA; Stöckl, Doris D; Visser, Jenny A JA; Völker, Uwe U; Vozzi, Diego D; Wilson, James G JG; Zygmunt, Marek M; , ; , ; Boerwinkle, Eric E; Buring, Julie E JE; Crisponi, Laura L; Easton, Douglas F DF; Hayward, Caroline C; Hu, Frank B FB; Liu, Simin S; Metspalu, Andres A; Pennell, Craig E CE; Ridker, Paul M PM; Strauch, Konstantin K; Streeten, Elizabeth A EA; Toniolo, Daniela D; Uitterlinden, André G AG; Ulivi, Sheila S; Völzke, Henry H; Wareham, Nicholas J NJ; Wellons, Melissa M; Franceschini, Nora N; Chasman, Daniel I DI; Thorsteinsdottir, Unnur U; Murray, Anna A; Stefansson, Kari K; Murabito, Joanne M JM; Ong, Ken K KK; Perry, John R B JR
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
Publication Date: 2014
Variant appearance in text: PRKAG1: T89S; rs1126930
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO