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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
Nature Genetics
2019
51
2
245-257

Porcu, Eleonora;Rüeger, Sina;Lepik, Kaido;Agbessi, Mawussé;Ahsan, Habibul;Alves, Isabel;Andiappan, Anand;Arindrarto, Wibowo;Awadalla, Philip;Battle, Alexis;Beutner, Frank;Jan Bonder, Marc;Boomsma, Dorret;Christiansen, Mark;Claringbould, Annique;Deelen, Patrick;Esko, Tõnu;Favé, Marie-Julie;Franke, Lude;Frayling, Timothy;Gharib, Sina A.;Gibson, Gregory;Heijmans, Bastiaan T.;Hemani, Gibran;Jansen, Rick;Kähönen, Mika;Kalnapenkis, Anette;Kasela, Silva;Kettunen, Johannes;Kim, Yungil;Kirsten, Holger;Kovacs, Peter;Krohn, Knut;Kronberg-Guzman, Jaanika;Kukushkina, Viktorija;Lee, Bernett;Lehtimäki, Terho;Loeffler, Markus;Marigorta, Urko M.;Mei, Hailang;Milani, Lili;Montgomery, Grant W.;Müller-Nurasyid, Martina;Nauck, Matthias;Nivard, Michel;Penninx, Brenda;Perola, Markus;Pervjakova, Natalia;Pierce, Brandon L.;Powell, Joseph;Prokisch, Holger;Psaty, Bruce M.;Raitakari, Olli T.;Ripatti, Samuli;Rotzschke, Olaf;Saha, Ashis;Scholz, Markus;Schramm, Katharina;Seppälä, Ilkka;Slagboom, Eline P.;Stehouwer, Coen D. A.;Stumvoll, Michael;Sullivan, Patrick;‘t Hoen, Peter A. C.;Teumer, Alexander;Thiery, Joachim;Tong, Lin;Tönjes, Anke;van Dongen, Jenny;van Iterson, Maarten;van Meurs, Joyce;Veldink, Jan H.;Verlouw, Joost;Visscher, Peter M.;Völker, Uwe;Võsa, Urmo;Westra, Harm-Jan;Wijmenga, Cisca;Yaghootkar, Hanieh;Yang, Jian;Zeng, Biao;Zhang, Futao;Arindrarto, Wibowo;Beekman, Marian;Boomsma, Dorret I.;Bot, Jan;Deelen, Joris;Deelen, Patrick;Franke, Lude;Heijmans, Bastiaan T.;’t Hoen, Peter A. C.;Hofman, Bert A.;Hottenga, Jouke J.;Isaacs, Aaron;Bonder, Marc Jan;Jhamai, P. Mila;Jansen, Rick;Kielbasa, Szymon M.;Lakenberg, Nico;Luijk, René;Mei, Hailiang;Moed, Matthijs;Nooren, Irene;Pool, René;Schalkwijk, Casper G.;Slagboom, P. Eline;Stehouwer, Coen D. A.;Suchiman, H. Eka D.;Swertz, Morris A.;Tigchelaar, Ettje F.;Uitterlinden, André G.;van den Berg, Leonard H.;van der Breggen, Ruud;van der Kallen, Carla J. H.;van Dijk, Freerk;van Dongen, Jenny;van Duijn, Cornelia M.;van Galen, Michiel;van Greevenbroek, Marleen M. J.;van Heemst, Diana;van Iterson, Maarten;van Meurs, Joyce;van Rooij, Jeroen;van’t Hof, Peter;van Zwet, Erik. W.;Vermaat, Martijn;Veldink, Jan H.;Verbiest, Michael;Verkerk, Marijn;Wijmenga, Cisca;Zhernakova, Dasha V.;Zhernakova, Sasha;Santoni, Federico A.;Reymond, Alexandre;Kutalik, Zoltán;;
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Nature Communications
2019
10
1

Suleiman, Jehan;Riedhammer, Korbinian M;Jicinsky, Timothy;Mundt, Melinda;Werner, Laurie;Gusic, Mirjana;Burgemeister, Anna L;Alsaif, Hessa S;Abdulrahim, Maha;Moghrabi, Nabil N;Nicolas-Jilwan, Manal;AlSayed, Moeenaldeen;Bi, Weimin;Sampath, Srirangan;Alkuraya, Fowzan S;El-Hattab, Ayman W
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Hum Mutat
2019
40
11
1985-1992

Zweier, Markus;Begemann, Anaïs;McWalter, Kirsty;Cho, Megan T;Abela, Lucia;Banka, Siddharth;Behring, Bettina;Berger, Andrea;Brown, Chester W;Carneiro, Maryline;Chen, Jiani;Cooper, Gregory M;Finnila, Candice R;Guillen Sacoto, Maria J;Henderson, Alex;Hüffmeier, Ulrike;Joset, Pascal;Kerr, Bronwyn;Lesca, Gaetan;Leszinski, Gloria S;McDermott, John Henry;Meltzer, Meira R;Monaghan, Kristin G;Mostafavi, Roya;Ounap, Katrin;Plecko, Barbara;Powis, Zöe;Purcarin, Gabriela;Reimand, Tiia;Riedhammer, Korbinian M;Schreiber, John M;Sirsi, Deepa;Wierenga, Klaas J;Wojcik, Monica H;Papuc, Sorina M;Steindl, Katharina;Sticht, Heinrich;Rauch, Anita
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
2019
27
5
747-759

Götzl, Julia K;Brendel, Matthias;Werner, Georg;Parhizkar, Samira;Sebastian Monasor, Laura;Kleinberger, Gernot;Colombo, Alessio-Vittorio;Deussing, Maximilian;Wagner, Matias;Winkelmann, Juliane;Diehl-Schmid, Janine;Levin, Johannes;Fellerer, Katrin;Reifschneider, Anika;Bultmann, Sebastian;Bartenstein, Peter;Rominger, Axel;Tahirovic, Sabina;Smith, Scott T;Madore, Charlotte;Butovsky, Oleg;Capell, Anja;Haass, Christian
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.
EMBO Mol Med
2019
11
6

Murakami, Masanori;Rhayem, Yara;Kunzke, Thomas;Sun, Na;Feuchtinger, Annette;Ludwig, Philippe;Strom, Tim Matthias;Gomez-Sanchez, Celso;Knösel, Thomas;Kirchner, Thomas;Williams, Tracy Ann;Reincke, Martin;Walch, Axel Karl;Beuschlein, Felix
In situ metabolomics of aldosterone-producing adenomas.
JCI Insight
2019
4
17

Zech, Michael;Lam, Daniel D;Winkelmann, Juliane
Update on KMT2B-Related Dystonia.
Curr Neurol Neurosci Rep
2019
19
11

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Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
Nat Genet
2019
51
4
636-648

Feichtinger, René G;Mucha, Bettina E;Hengel, Holger;Orfi, Zakaria;Makowski, Christine;Dort, Junio;D'Anjou, Guy;Nguyen, Thi Tuyet Mai;Buchert, Rebecca;Juenger, Hendrik;Freisinger, Peter;Baumeister, Sarah;Schoser, Benedikt;Ahting, Uwe;Keimer, Reinhard;Nguyen, Cam-Tu Emilie;Fabre, Paul;Gauthier, Julie;Miguet, Marguerite;Lopes, Fátima;AlHakeem, Afnan;Alhashem, Amal;Tabarki, Brahim;Kandaswamy, Krishna Kumar;Bauer, Peter;Steinbacher, Peter;Prokisch, Holger;Sturm, Marc;Strom, Tim M;Ellezam, Benjamin;Mayr, Johannes A;Schöls, Ludger;Michaud, Jacques L;Campeau, Philippe M;Haack, Tobias B;Dumont, Nicolas A
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Genet Med
2019
21
11
2521-2531

Noordam, Raymond;Bos, Maxime M;Wang, Heming;Winkler, Thomas W;Bentley, Amy R;Kilpeläinen, Tuomas O;de Vries, Paul S;Sung, Yun Ju;Schwander, Karen;Cade, Brian E;Manning, Alisa;Aschard, Hugues;Brown, Michael R;Chen, Han;Franceschini, Nora;Musani, Solomon K;Richard, Melissa;Vojinovic, Dina;Aslibekyan, Stella;Bartz, Traci M;de Las Fuentes, Lisa;Feitosa, Mary;Horimoto, Andrea R;Ilkov, Marjan;Kho, Minjung;Kraja, Aldi;Li, Changwei;Lim, Elise;Liu, Yongmei;Mook-Kanamori, Dennis O;Rankinen, Tuomo;Tajuddin, Salman M;van der Spek, Ashley;Wang, Zhe;Marten, Jonathan;Laville, Vincent;Alver, Maris;Evangelou, Evangelos;Graff, Maria E;He, Meian;Kühnel, Brigitte;Lyytikäinen, Leo-Pekka;Marques-Vidal, Pedro;Nolte, Ilja M;Palmer, Nicholette D;Rauramaa, Rainer;Shu, Xiao-Ou;Snieder, Harold;Weiss, Stefan;Wen, Wanqing;Yanek, Lisa R;Adolfo, Correa;Ballantyne, Christie;Bielak, Larry;Biermasz, Nienke R;Boerwinkle, Eric;Dimou, Niki;Eiriksdottir, Gudny;Gao, Chuan;Gharib, Sina A;Gottlieb, Daniel J;Haba-Rubio, José;Harris, Tamara B;Heikkinen, Sami;Heinzer, Raphael;Hixson, James E;Homuth, Georg;Ikram, M Arfan;Komulainen, Pirjo;Krieger, Jose E;Lee, Jiwon;Liu, Jingmin;Lohman, Kurt K;Luik, Annemarie I;Mägi, Reedik;Martin, Lisa W;Meitinger, Thomas;Metspalu, Andres;Milaneschi, Yuri;Nalls, Mike A;O'Connell, Jeff;Peters, Annette;Peyser, Patricia;Raitakari, Olli T;Reiner, Alex P;Rensen, Patrick C N;Rice, Treva K;Rich, Stephen S;Roenneberg, Till;Rotter, Jerome I;Schreiner, Pamela J;Shikany, James;Sidney, Stephen S;Sims, Mario;Sitlani, Colleen M;Sofer, Tamar;Strauch, Konstantin;Swertz, Morris A;Taylor, Kent D;Uitterlinden, Andre G;van Duijn, Cornelia M;Völzke, Henry;Waldenberger, Melanie;Wallance, Robert B;van Dijk, Ko Willems;Yu, Caizheng;Zonderman, Alan B;Becker, Diane M;Elliott, Paul;Esko, Tõnu;Gieger, Christian;Grabe, Hans J;Lakka, Timo A;Lehtimäki, Terho;North, Kari E;Penninx, Brenda W J H;Vollenweider, Peter;Wagenknecht, Lynne E;Wu, Tangchun;Xiang, Yong-Bing;Zheng, Wei;Arnett, Donna K;Bouchard, Claude;Evans, Michele K;Gudnason, Vilmundur;Kardia, Sharon;Kelly, Tanika N;Kritchevsky, Stephen B;Loos, Ruth J F;Pereira, Alexandre C;Province, Mike;Psaty, Bruce M;Rotimi, Charles;Zhu, Xiaofeng;Amin, Najaf;Cupples, L Adrienne;Fornage, Myriam;Fox, Ervin F;Guo, Xiuqing;Gauderman, W James;Rice, Kenneth;Kooperberg, Charles;Munroe, Patricia B;Liu, Ching-Ti;Morrison, Alanna C;Rao, Dabeeru C;van Heemst, Diana;Redline, Susan
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.
Nat Commun
2019
10
1