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
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: SLC39A8: L449F; rs112519623
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: SLC39A8: L449F; rs112519623
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: SLC39A8: L449F; rs112519623
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
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: SLC39A8: L449F; rs112519623
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