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    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome von Chen, Yuyang, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lecoquierre, François, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stewart, Helen S., Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., VanNoy, Grace E., Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Sanders, Stephan J., O’Donnell-Luria, Anne, Whiffin, Nicola

    Veröffentlicht in Nature (London)

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    Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity von Schurmann, Claudia, Fine, Rebecca S, Bradfield, Jonathan P, Hendricks, Audrey E, Mudgal, Poorva, Ng, Maggie CY, Reiner, Alex P, Willems, Sara M, Barroso, Inês, Bastarache, Lisa, Boehnke, Michael, Brandslund, Ivan, Carey, David J, Caulfield, Mark J, Chu, Audrey Y, Cocca, Massimiliano, Galbany, Jordi Corominas, Crosslin, David S, D'Eustacchio, Angela, de Bakker, Paul IW, de Groot, Mark CH, Dennis, Joe G, Easton, Douglas F, Ford, Ian, Franco, Oscar H, Franke, Andre, Friedrich, Nele, Frikke-Schmidt, Ruth, Gasparini, Paolo, Gjesing, Anette P, Gordon-Larsen, Penny, Grarup, Niels, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R, Harris, Kathleen Mullan, He, Liang, Hernesniemi, Jussi, Howson, Joanna MM, Jensen, Gorm B, Jørgensen, Marit E, Kahn, René S, Kähönen, Mika, Kooner, Jaspal S, Kooperberg, Charles, Korhonen, Tellervo, Kutalik, Zoltán, Li, Huaixing, Li, Jin, Liu, Ching-Ti, Lotery, Andrew J, Loukola, Anu, Luan, Jian'an, Lubitz, Steven A, Männistö, Satu, Mazul, Angela L, Milani, Lili, Moilanen, Leena, Mook-Kanamori, Dennis O, Morris, Andrew D, Nalls, Mike A, O’Donoghue, Michelle L, Owen, Katharine R, Packard, Chris J, Pasterkamp, Gerard, Pennell, Craig E, Pers, Tune H, Pirie, Ailith, Puolijoki, Hannu, Raitakari, Olli T, Rasheed, Asif, Renström, Frida, Rioux, John D, Robertson, Neil R, Robino, Antonietta, Rolandsson, Olov, Sapkota, Yadav, Smith, Albert Vernon, Speliotes, Elizabeth K, Strauch, Konstantin, Stringham, Heather M, Stumvoll, Michael, Surendran, Praveen, Thuesen, Betina H, Tönjes, Anke, Trompet, Stella, Tsafantakis, Emmanouil, Uitterlinden, André G, Uusitupa, Matti, van Setten, Jessica, Varma, Rohit, Velez Edwards, Digna R, Vogt, Thomas F, Wang, Yiqin, Wood, Andrew R, Zhao, Wei, Rivadeneira, Fernando, Deloukas, Panos, Lettre, Guillaume, Lindgren, Cecilia M

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