Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Cell Genomics
Zhou, Wei W; Kanai, Masahiro M; Wu, Kuan-Han H KH; Rasheed, Humaira H; Tsuo, Kristin K; Hirbo, Jibril B JB; Wang, Ying Y; Bhattacharya, Arjun A; Zhao, Huiling H; Namba, Shinichi S; Surakka, Ida I; Wolford, Brooke N BN; Lo Faro, Valeria V; Lopera-Maya, Esteban A EA; Läll, Kristi K; Favé, Marie-Julie MJ; Partanen, Juulia J JJ; Chapman, Sinéad B SB; Karjalainen, Juha J; Kurki, Mitja M; Maasha, Mutaamba M; Brumpton, Ben M BM; Chavan, Sameer S; Chen, Tzu-Ting TT; Daya, Michelle M; Ding, Yi Y; Feng, Yen-Chen A YA; Guare, Lindsay A LA; Gignoux, Christopher R CR; Graham, Sarah E SE; Hornsby, Whitney E WE; Ingold, Nathan N; Ismail, Said I SI; Johnson, Ruth R; Laisk, Triin T; Lin, Kuang K; Lv, Jun J; Millwood, Iona Y IY; Moreno-Grau, Sonia S; Nam, Kisung K; Palta, Priit P; Pandit, Anita A; Preuss, Michael H MH; Saad, Chadi C; Setia-Verma, Shefali S; Thorsteinsdottir, Unnur U; Uzunovic, Jasmina J; Verma, Anurag A; Zawistowski, Matthew M; Zhong, Xue X; Afifi, Nahla N; Al-Dabhani, Kawthar M KM; Al Thani, Asma A; Bradford, Yuki Y; Campbell, Archie A; Crooks, Kristy K; de Bock, Geertruida H GH; Damrauer, Scott M SM; Douville, Nicholas J NJ; Finer, Sarah S; Fritsche, Lars G LG; Fthenou, Eleni E; Gonzalez-Arroyo, Gilberto G; Griffiths, Christopher J CJ; Guo, Yu Y; Hunt, Karen A KA; Ioannidis, Alexander A; Jansonius, Nomdo M NM; Konuma, Takahiro T; Lee, Ming Ta Michael MTM; Lopez-Pineda, Arturo A; Matsuda, Yuta Y; Marioni, Riccardo E RE; Moatamed, Babak B; Nava-Aguilar, Marco A MA; Numakura, Kensuke K; Patil, Snehal S; Rafaels, Nicholas N; Richmond, Anne A; Rojas-Muñoz, Agustin A; Shortt, Jonathan A JA; Straub, Peter P; Tao, Ran R; Vanderwerff, Brett B; Vernekar, Manvi M; Veturi, Yogasudha Y; Barnes, Kathleen C KC; Boezen, Marike M; Chen, Zhengming Z; Chen, Chia-Yen CY; Cho, Judy J; Smith, George Davey GD; Finucane, Hilary K HK; Franke, Lude L; Gamazon, Eric R ER; Ganna, Andrea A; Gaunt, Tom R TR; Ge, Tian T; Huang, Hailiang H; Huffman, Jennifer J; Katsanis, Nicholas N; Koskela, Jukka T JT; Lajonchere, Clara C; Law, Matthew H MH; Li, Liming L; Lindgren, Cecilia M CM; Loos, Ruth J F RJF; MacGregor, Stuart S; Matsuda, Koichi K; Olsen, Catherine M CM; Porteous, David J DJ; Shavit, Jordan A JA; Snieder, Harold H; Takano, Tomohiro T; Trembath, Richard C RC; Vonk, Judith M JM; Whiteman, David C DC; Wicks, Stephen J SJ; Wijmenga, Cisca C; Wright, John J; Zheng, Jie J; Zhou, Xiang X; Awadalla, Philip P; Boehnke, Michael M; Bustamante, Carlos D CD; Cox, Nancy J NJ; Fatumo, Segun S; Geschwind, Daniel H DH; Hayward, Caroline C; Hveem, Kristian K; Kenny, Eimear E EE; Lee, Seunggeun S; Lin, Yen-Feng YF; Mbarek, Hamdi H; Mägi, Reedik R; Martin, Hilary C HC; Medland, Sarah E SE; Okada, Yukinori Y; Palotie, Aarno V AV; Pasaniuc, Bogdan B; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Sanna, Serena S; Smoller, Jordan W JW; Stefansson, Kari K; van Heel, David A DA; Walters, Robin G RG; Zöllner, Sebastian S; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Martin, Alicia R AR; Willer, Cristen J CJ; Daly, Mark J MJ; Neale, Benjamin M BM
Discerning asthma endotypes through comorbidity mapping.
Nature Communications
Jia, Gengjie G; Zhong, Xue X; Im, Hae Kyung HK; Schoettler, Nathan N; Pividori, Milton M; Hogarth, D Kyle DK; Sperling, Anne I AI; White, Steven R SR; Naureckas, Edward T ET; Lyttle, Christopher S CS; Terao, Chikashi C; Kamatani, Yoichiro Y; Akiyama, Masato M; Matsuda, Koichi K; Kubo, Michiaki M; Cox, Nancy J NJ; Ober, Carole C; Rzhetsky, Andrey A; Solway, Julian J
Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank.
Communications Biology
Valette, Kim K; Li, Zhonglin Z; Bon-Baret, Valentin V; Chignon, Arnaud A; Bérubé, Jean-Christophe JC; Eslami, Aida A; Lamothe, Jennifer J; Gaudreault, Nathalie N; Joubert, Philippe P; Obeidat, Ma'en M; van den Berge, Maarten M; Timens, Wim W; Sin, Don D DD; Nickle, David C DC; Hao, Ke K; Labbé, Catherine C; Godbout, Krystelle K; Côté, Andréanne A; Laviolette, Michel M; Boulet, Louis-Philippe LP; Mathieu, Patrick P; Thériault, Sébastien S; Bossé, Yohan Y
Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Plos Genetics
Ferreira, Manuel A R MAR; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; Lu, Yi Y; Grosche, Sarah S; Rüschendorf, Franz F; Granell, Raquel R; Brumpton, Ben M BM; Fritsche, Lars G LG; Bhatta, Laxmi L; Gabrielsen, Maiken E ME; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Emami, Nima C NC; Cavazos, Taylor B TB; Witte, John S JS; Szwajda, Agnieszka A; , ; , ; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik Ke PK; Jorgenson, Eric E; Karlsson, Robert R; Paternoster, Lavinia L; Boomsma, Dorret I DI; Almqvist, Catarina C; Lee, Young-Ae YA; Koppelman, Gerard H GH
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04
Variant appearance in text: STAT6: 1608-41A>C; rs3024971
GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci.
Human Molecular Genetics
Jones, Amy V AV; Tilley, Mera M; Gutteridge, Alex A; Hyde, Craig C; Nagle, Michael M; Ziemek, Daniel D; Gorman, Donal D; Fauman, Eric B EB; Chen, Xing X; Miller, Melissa R MR; Tian, Chao C; Hu, Youna Y; Hinds, David A DA; Cox, Peter P; Scollen, Serena S
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
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients.
American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Sperati, C John CJ; Parekh, Rulan S RS; Berthier-Schaad, Yvette Y; Jaar, Bernard G BG; Plantinga, Laura L; Fink, Nancy N; Powe, Neil R NR; Smith, Michael W MW; Coresh, Josef J; Kao, W H Linda WH