The Role of Calcium, 25-Hydroxyvitamin D, and Parathyroid Hormone in Irritable Bowel Syndrome: A Bidirectional Two-Sample Mendelian Randomization Study.
Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.
Communications Biology
Moksnes, Marta R MR; Graham, Sarah E SE; Wu, Kuan-Han KH; Hansen, Ailin Falkmo AF; Gagliano Taliun, Sarah A SA; Zhou, Wei W; Thorstensen, Ketil K; Fritsche, Lars G LG; Gill, Dipender D; Mason, Amy A; Cucca, Francesco F; Schlessinger, David D; Abecasis, Gonçalo R GR; Burgess, Stephen S; Åsvold, Bjørn Olav BO; Nielsen, Jonas B JB; Hveem, Kristian K; Willer, Cristen J CJ; Brumpton, Ben M BM
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
Communications Biology
Bell, Steven S; Rigas, Andreas S AS; Magnusson, Magnus K MK; Ferkingstad, Egil E; Allara, Elias E; Bjornsdottir, Gyda G; Ramond, Anna A; Sørensen, Erik E; Halldorsson, Gisli H GH; Paul, Dirk S DS; Burgdorf, Kristoffer S KS; Eggertsson, Hannes P HP; Howson, Joanna M M JMM; Thørner, Lise W LW; Kristmundsdottir, Snaedis S; Astle, William J WJ; Erikstrup, Christian C; Sigurdsson, Jon K JK; Vuckovic, Dragana D; Dinh, Khoa M KM; Tragante, Vinicius V; Surendran, Praveen P; Pedersen, Ole B OB; Vidarsson, Brynjar B; Jiang, Tao T; Paarup, Helene M HM; Onundarson, Pall T PT; Akbari, Parsa P; Nielsen, Kaspar R KR; Lund, Sigrun H SH; Juliusson, Kristinn K; Magnusson, Magnus I MI; Frigge, Michael L ML; Oddsson, Asmundur A; Olafsson, Isleifur I; Kaptoge, Stephen S; Hjalgrim, Henrik H; Runarsson, Gudmundur G; Wood, Angela M AM; Jonsdottir, Ingileif I; Hansen, Thomas F TF; Sigurdardottir, Olof O; Stefansson, Hreinn H; Rye, David D; , ; Peters, James E JE; Westergaard, David D; Holm, Hilma H; Soranzo, Nicole N; Banasik, Karina K; Thorleifsson, Gudmar G; Ouwehand, Willem H WH; Thorsteinsdottir, Unnur U; Roberts, David J DJ; Sulem, Patrick P; Butterworth, Adam S AS; Gudbjartsson, Daniel F DF; Danesh, John J; Brunak, Søren S; Di Angelantonio, Emanuele E; Ullum, Henrik H; Stefansson, Kari K
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
Functionally informed fine-mapping and polygenic localization of complex trait heritability.
Nature Genetics
Weissbrod, Omer O; Hormozdiari, Farhad F; Benner, Christian C; Cui, Ran R; Ulirsch, Jacob J; Gazal, Steven S; Schoech, Armin P AP; van de Geijn, Bryce B; Reshef, Yakir Y; Márquez-Luna, Carla C; O'Connor, Luke L; Pirinen, Matti M; Finucane, Hilary K HK; Price, Alkes L AL
Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.
Human Molecular Genetics
Simcoe, Mark J MJ; Khawaja, Anthony P AP; Hysi, Pirro G PG; Hammond, Christopher J CJ; ,
Polygenic Hyperlipidemias and Coronary Artery Disease Risk.
Circulation. Genomic And Precision Medicine
Ripatti, Pietari P; Rämö, Joel T JT; Mars, Nina J NJ; Fu, Yu Y; Lin, Jake J; Söderlund, Sanni S; Benner, Christian C; Surakka, Ida I; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Palta, Priit P; Freimer, Nelson B NB; Widén, Elisabeth E; Salomaa, Veikko V; Tukiainen, Taru T; Pirinen, Matti M; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Ripatti, Samuli S; ,
Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.
Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
Jama Ophthalmology
Khawaja, Anthony P AP; Rojas Lopez, Karla E KE; Hardcastle, Alison J AJ; Hammond, Chris J CJ; Liskova, Petra P; Davidson, Alice E AE; Gore, Daniel M DM; Hafford Tear, Nathan J NJ; Pontikos, Nikolas N; Hayat, Shabina S; Wareham, Nick N; Khaw, Kay-Tee KT; Tuft, Stephen J SJ; Foster, Paul J PJ; Hysi, Pirro G PG
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
Publication Date: 2019-03-20
Variant appearance in text: ABCA6: C1359R; rs77542162
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
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: ABCA6: C1359R; rs77542162
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: ABCA6: C1359R; rs77542162
Rare and low-frequency coding variants alter human adult height.
Nature
Marouli, Eirini E; Graff, Mariaelisa M; Medina-Gomez, Carolina C; Lo, Ken Sin KS; Wood, Andrew R AR; Kjaer, Troels R TR; Fine, Rebecca S RS; Lu, Yingchang Y; Schurmann, Claudia C; Highland, Heather M HM; Rüeger, Sina S; Thorleifsson, Gudmar G; Justice, Anne E AE; Lamparter, David D; Stirrups, Kathleen E KE; Turcot, Valérie V; Young, Kristin L KL; Winkler, Thomas W TW; Esko, Tõnu T; Karaderi, Tugce T; Locke, Adam E AE; Masca, Nicholas G D NG; Ng, Maggie C Y MC; Mudgal, Poorva P; Rivas, Manuel A MA; Vedantam, Sailaja S; Mahajan, Anubha A; Guo, Xiuqing X; Abecasis, Goncalo G; Aben, Katja K KK; Adair, Linda S LS; Alam, Dewan S DS; Albrecht, Eva E; Allin, Kristine H KH; Allison, Matthew M; Amouyel, Philippe P; Appel, Emil V EV; Arveiler, Dominique D; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Banas, Bernhard B; Bang, Lia E LE; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bonnycastle, Lori L LL; 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; Burt, Amber A AA; Butterworth, Adam S AS; Carey, David J DJ; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida 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; Galbany, Jordi Corominas JC; Cox, Amanda J AJ; Cuellar-Partida, Gabriel G; Danesh, John J; Davies, Gail G; de Bakker, Paul I W PI; de Borst, Gert J GJ; de Denus, Simon S; de Groot, Mark C H MC; de Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; den Hollander, Anneke I AI; Dennis, Joe G JG; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dunning, Alison M AM; Easton, Douglas F DF; Ebeling, Tapani T; Edwards, Todd L TL; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Faul, Jessica D JD; Feitosa, Mary F MF; Feng, Shuang S; Ferrannini, Ele E; Ferrario, Marco M MM; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Giri, Ayush A; Girotto, Giorgia G; Gordon, Scott D SD; Gordon-Larsen, Penny P; Gorski, Mathias M; Grarup, Niels N; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; He, Liang L; Heid, Iris M IM; Heikkilä, Kauko K; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Hocking, Lynne J LJ; Hollensted, Mette M; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JM; Hoyng, Carel B CB; Huang, Paul L PL; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jhun, Min A MA; Jia, Yucheng Y; Jiang, Xuejuan X; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jousilahti, Pekka P; 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 SL; Karpe, Fredrik F; Kee, Frank F; Keeman, Renske R; Kiemeney, Lambertus A LA; Kitajima, Hidetoshi H; Kluivers, Kirsten B KB; Kocher, Thomas T; Komulainen, Pirjo P; Kontto, Jukka J; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kriebel, Jennifer J; Kuivaniemi, Helena H; Küry, Sébastien S; Kuusisto, Johanna J; La Bianca, Martina M; Laakso, Markku M; Lakka, Timo A TA; Lange, Ethan M EM; Lange, Leslie A LA; Langefeld, Carl D CD; Langenberg, Claudia C; Larson, Eric B EB; Lee, I-Te IT; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Yeheng Y; Liu, Yongmei Y; Lophatananon, Artitaya A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Mackey, David A DA; Madden, Pamela A F PA; Manning, Alisa K AK; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Martin, Nicholas G NG; Mazul, Angela L AL; Meidtner, Karina K; Metspalu, Andres A; Mitchell, Paul P; Mohlke, Karen L KL; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Nauck, Matthias M; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Ntalla, Ioanna I; O'Connel, Jeffrey R JR; Oksa, Heikki H; Loohuis, Loes M Olde LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CN; 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 JR; Person, Thomas N TN; Pirie, Ailith A; Polasek, Ozren O; Posthuma, Danielle D; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil N; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sandow, Kevin K; Sapkota, Yadav Y; Sattar, Naveed N; Schmidt, Marjanka K MK; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati S; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert Vernon AV; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Stumvoll, Michael M; Surendran, Praveen P; 't Hart, Leen M LM; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; 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; Ulivi, Sheila S; van der Laan, Sander W SW; Van Der Leij, Andries R AR; van Duijn, Cornelia M CM; van Schoor, Natasja M NM; van Setten, Jessica J; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Edwards, Digna R Velez DR; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vozzi, Diego D; Walker, Mark M; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Wareham, Nicholas J NJ; Warren, Helen R HR; Wessel, Jennifer J; Willems, Sara M SM; Wilson, James G JG; Witte, Daniel R DR; Woods, Michael O MO; 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; Zheng, He H; Zhou, Wei W; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Boehnke, Michael M; Kathiresan, Sekar S; McCarthy, Mark I MI; Willer, Cristen J CJ; Stefansson, Kari K; Borecki, Ingrid B IB; Liu, Dajiang J DJ; North, Kari E KE; Heard-Costa, Nancy L NL; Pers, Tune H TH; Lindgren, Cecilia M CM; Oxvig, Claus C; Kutalik, Zoltán Z; Rivadeneira, Fernando F; Loos, Ruth J F RJ; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Deloukas, Panos P; Lettre, Guillaume G
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
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
Publication Date: 2017-01-05
Variant appearance in text: ABCA6: C1359R; rs77542162
The impact of low-frequency and rare variants on lipid levels.
Nature Genetics
Surakka, Ida I; Horikoshi, Momoko M; Mägi, Reedik R; Sarin, Antti-Pekka AP; Mahajan, Anubha A; Lagou, Vasiliki V; Marullo, Letizia L; Ferreira, Teresa T; Miraglio, Benjamin B; Timonen, Sanna S; Kettunen, Johannes J; Pirinen, Matti M; Karjalainen, Juha J; Thorleifsson, Gudmar G; Hägg, Sara S; Hottenga, Jouke-Jan JJ; Isaacs, Aaron A; Ladenvall, Claes C; Beekman, Marian M; Esko, Tõnu T; Ried, Janina S JS; Nelson, Christopher P CP; Willenborg, Christina C; Gustafsson, Stefan S; Westra, Harm-Jan HJ; Blades, Matthew M; de Craen, Anton J M AJ; de Geus, Eco J EJ; Deelen, Joris J; Grallert, Harald H; Hamsten, Anders A; Havulinna, Aki S AS; Hengstenberg, Christian C; Houwing-Duistermaat, Jeanine J JJ; Hyppönen, Elina E; Karssen, Lennart C LC; Lehtimäki, Terho T; Lyssenko, Valeriya V; Magnusson, Patrik K E PK; Mihailov, Evelin E; Müller-Nurasyid, Martina M; Mpindi, John-Patrick JP; Pedersen, Nancy L NL; Penninx, Brenda W J H BW; Perola, Markus M; Pers, Tune H TH; Peters, Annette A; Rung, Johan J; Smit, Johannes H JH; Steinthorsdottir, Valgerdur V; Tobin, Martin D MD; Tsernikova, Natalia N; van Leeuwen, Elisabeth M EM; Viikari, Jorma S JS; Willems, Sara M SM; Willemsen, Gonneke G; Schunkert, Heribert H; Erdmann, Jeanette J; Samani, Nilesh J NJ; Kaprio, Jaakko J; Lind, Lars L; Gieger, Christian C; Metspalu, Andres A; Slagboom, P Eline PE; Groop, Leif L; van Duijn, Cornelia M CM; Eriksson, Johan G JG; Jula, Antti A; Salomaa, Veikko V; Boomsma, Dorret I DI; Power, Christine C; Raitakari, Olli T OT; Ingelsson, Erik E; Järvelin, Marjo-Riitta MR; Thorsteinsdottir, Unnur U; Franke, Lude L; Ikonen, Elina E; Kallioniemi, Olli O; Pietiäinen, Vilja V; Lindgren, Cecilia M CM; Stefansson, Kari K; Palotie, Aarno A; McCarthy, Mark I MI; Morris, Andrew P AP; Prokopenko, Inga I; Ripatti, Samuli S; ,
Publication Date: 2015-06
Variant appearance in text: ABCA6: Cys1359Arg; rs77542162
Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
Nature Communications
van Leeuwen, Elisabeth M EM; Karssen, Lennart C LC; Deelen, Joris J; Isaacs, Aaron A; Medina-Gomez, Carolina C; Mbarek, Hamdi H; Kanterakis, Alexandros A; Trompet, Stella S; Postmus, Iris I; Verweij, Niek N; van Enckevort, David J DJ; Huffman, Jennifer E JE; White, Charles C CC; Feitosa, Mary F MF; Bartz, Traci M TM; Manichaikul, Ani A; Joshi, Peter K PK; Peloso, Gina M GM; Deelen, Patrick P; van Dijk, Freerk F; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda W J H BW; Francioli, Laurent C LC; Menelaou, Androniki A; Pulit, Sara L SL; Rivadeneira, Fernando F; Hofman, Albert A; Oostra, Ben A BA; Franco, Oscar H OH; Mateo Leach, Irene I; Beekman, Marian M; de Craen, Anton J M AJ; Uh, Hae-Won HW; Trochet, Holly H; Hocking, Lynne J LJ; Porteous, David J DJ; Sattar, Naveed N; Packard, Chris J CJ; Buckley, Brendan M BM; Brody, Jennifer A JA; Bis, Joshua C JC; Rotter, Jerome I JI; Mychaleckyj, Josyf C JC; Campbell, Harry H; Duan, Qing Q; Lange, Leslie A LA; Wilson, James F JF; Hayward, Caroline C; Polasek, Ozren O; Vitart, Veronique V; Rudan, Igor I; Wright, Alan F AF; Rich, Stephen S SS; Psaty, Bruce M BM; Borecki, Ingrid B IB; Kearney, Patricia M PM; Stott, David J DJ; Adrienne Cupples, L L; , ; Jukema, J Wouter JW; van der Harst, Pim P; Sijbrands, Eric J EJ; Hottenga, Jouke-Jan JJ; Uitterlinden, Andre G AG; Swertz, Morris A MA; van Ommen, Gert-Jan B GJ; de Bakker, Paul I W PI; Eline Slagboom, P P; Boomsma, Dorret I DI; Wijmenga, Cisca C; van Duijn, Cornelia M CM
Publication Date: 2015-03-09
Variant appearance in text: ABCA6: Cys1359Arg; rs77542162
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: ABCA6: C1359R; rs77542162
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
Publication Date: 2014
Variant appearance in text: ABCA6: C1359R; rs77542162