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Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Karlsson Linnér, Richard;;Biroli, Pietro;Kong, Edward;Meddens, S. Fleur W.;Wedow, Robbee;Fontana, Mark Alan;Lebreton, Maël;Tino, Stephen P.;Abdellaoui, Abdel;Hammerschlag, Anke R.;Nivard, Michel G.;Okbay, Aysu;Rietveld, Cornelius A.;Timshel, Pascal N.;Trzaskowski, Maciej;Vlaming, Ronald de;Zünd, Christian L.;Bao, Yanchun;Buzdugan, Laura;Caplin, Ann H.;Chen, Chia-Yen;Eibich, Peter;Fontanillas, Pierre;Gonzalez, Juan R.;Joshi, Peter K.;Karhunen, Ville;Kleinman, Aaron;Levin, Remy Z.;Lill, Christina M.;Meddens, Gerardus A.;Muntané, Gerard;Sanchez-Roige, Sandra;Rooij, Frank J. van;Taskesen, Erdogan;Wu, Yang;Zhang, Futao;Auton, Adam;Boardman, Jason D.;Clark, David W.;Conlin, Andrew;Dolan, Conor C.;Fischbacher, Urs;Groenen, Patrick J. F.;Harris, Kathleen Mullan;Hasler, Gregor;Hofman, Albert;Ikram, Mohammad A.;Jain, Sonia;Karlsson, Robert;Kessler, Ronald C.;Kooyman, Maarten;MacKillop, James;Männikkö, Minna;Morcillo-Suarez, Carlos;McQueen, Matthew B.;Schmidt, Klaus M.;Smart, Melissa C.;Sutter, Matthias;Thurik, A. Roy;Uitterlinden, André G.;White, Jon;Wit, Harriet de;Yang, Jian;Bertram, Lars;Boomsma, Dorret I.;Esko, Tõnu;Fehr, Ernst;Hinds, David A.;Johannesson, Magnus;Kumari, Meena;Laibson, David;Magnusson, Patrik K. E.;Meyer, Michelle N.;Navarro, Arcadi;Palmer, Abraham A.;Pers, Tune H.;Posthuma, Danielle;Schunk, Daniel;Stein, Murray B.;Svento, Rauli;Tiemeier, Henning;Timmers, Paul R. H. J.;Turley, Patrick;Ursano, Robert J.;Wagner, Gert G.;Wilson, James F.;Gratten, Jacob;Lee, James J.;Cesarini, David;Benjamin, Daniel J.;Koellinger, Philipp D.;Beauchamp, Jonathan P.;;;
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
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Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Nature Communications
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10
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Kreienkamp, Hans-Jürgen;Wagner, Matias;Weigand, Heike;McConkie-Rossell, Allyn;McDonald, Marie;Keren, Boris;Mignot, Cyril;Gauthier, Julie;Soucy, Jean-François;Michaud, Jacques L;Dumas, Meghan;Smith, Rosemarie;Löbel, Ulrike;Hempel, Maja;Kubisch, Christian;Denecke, Jonas;Campeau, Philippe M;Bain, Jennifer M;Lessel, Davor
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
2022
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Kolarova, Hana;Tan, Jing;Strom, Tim M;Meitinger, Thomas;Wagner, Matias;Klopstock, Thomas
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
EBioMedicine
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
2022
43
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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet
2022
54
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Hawe, Johann S;Wilson, Rory;Schmid, Katharina T;Zhou, Li;Lakshmanan, Lakshmi Narayanan;Lehne, Benjamin C;Kühnel, Brigitte;Scott, William R;Wielscher, Matthias;Yew, Yik Weng;Baumbach, Clemens;Lee, Dominic P;Marouli, Eirini;Bernard, Manon;Pfeiffer, Liliane;Matías-García, Pamela R;Autio, Matias I;Bourgeois, Stephane;Herder, Christian;Karhunen, Ville;Meitinger, Thomas;Prokisch, Holger;Rathmann, Wolfgang;Roden, Michael;Sebert, Sylvain;Shin, Jean;Strauch, Konstantin;Zhang, Weihua;Tan, Wilson L W;Hauck, Stefanie M;Merl-Pham, Juliane;Grallert, Harald;Barbosa, Eudes G V;Illig, Thomas;Peters, Annette;Paus, Tomas;Pausova, Zdenka;Deloukas, Panos;Foo, Roger S Y;Jarvelin, Marjo-Riitta;Kooner, Jaspal S;Loh, Marie;Heinig, Matthias;Gieger, Christian;Waldenberger, Melanie;Chambers, John C
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function.
Nat Genet
2022
54
1
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Marcogliese, Paul C;Deal, Samantha L;Andrews, Jonathan;Harnish, J Michael;Bhavana, V Hemanjani;Graves, Hillary K;Jangam, Sharayu;Luo, Xi;Liu, Ning;Bei, Danqing;Chao, Yu-Hsin;Hull, Brooke;Lee, Pei-Tseng;Pan, Hongling;Bhadane, Pradnya;Huang, Mei-Chu;Longley, Colleen M;Chao, Hsiao-Tuan;Chung, Hyung-Lok;Haelterman, Nele A;Kanca, Oguz;Manivannan, Sathiya N;Rossetti, Linda Z;German, Ryan J;Gerard, Amanda;Schwaibold, Eva Maria Christina;Fehr, Sarah;Guerrini, Renzo;Vetro, Annalisa;England, Eleina;Murali, Chaya N;Barakat, Tahsin Stefan;van Dooren, Marieke F;Wilke, Martina;van Slegtenhorst, Marjon;Lesca, Gaetan;Sabatier, Isabelle;Chatron, Nicolas;Brownstein, Catherine A;Madden, Jill A;Agrawal, Pankaj B;Keren, Boris;Courtin, Thomas;Perrin, Laurence;Brugger, Melanie;Roser, Timo;Leiz, Steffen;Mau-Them, Frederic Tran;Delanne, Julian;Sukarova-Angelovska, Elena;Trajkova, Slavica;Rosenhahn, Erik;Strehlow, Vincent;Platzer, Konrad;Keller, Roberto;Pavinato, Lisa;Brusco, Alfredo;Rosenfeld, Jill A;Marom, Ronit;Wangler, Michael F;Yamamoto, Shinya
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
2022
38
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Vogel, Florian D;Krenn, Martin;Westphal, Dominik S;Graf, Elisabeth;Wagner, Matias;Leiz, Steffen;Koniuszewski, Filip;Augé-Stock, Maximilian;Kramer, Georg;Scholze, Petra;Ernst, Margot
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Epilepsia
2022
63
4
e35-e41