NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C von Davis, Oliver B., Shin, Hijai R., Lim, Chun-Yan, Wu, Emma Y., Kukurugya, Matthew, Maher, Claire F., Perera, Rushika M., Ordonez, M. Paulina, Zoncu, Roberto

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A RACOG sponsored pilot study of a quality assurance program regarding management of labour by provincial Fellows von Humphrey, Michael D., Maher, Claire F., Panjari, Mary

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Physiological Functions of Bacterial “Multidrug” Efflux Pumps von Henderson, Peter J. F, Maher, Claire, Elbourne, Liam D. H, Eijkelkamp, Bart A, Paulsen, Ian T, Hassan, Karl A

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans von Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.

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Individualized approach to elexacaftor/tezacaftor/ivacaftor dosing in cystic fibrosis, in response to self-reported anxiety and neurocognitive adverse events: A case series von Ibrahim, Hisham, Danish, Hammad, Morrissey, David, Deasy, Kevin F, McCarthy, Mairead, Dorgan, James, Fleming, Claire, Howlett, Ciara, Twohig, Sarah, Vagg, Tamara, Murphy, Desmond M, Maher, Michael, Plant, Barry J

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Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service von Maher, Eamonn R., Adlard, Julian, Barwell, Julian, Brady, Angela F., Brennan, Paul, Cook, Jackie, Crawford, Gillian S., Dabir, Tabib, Davidson, Rosemarie, Dyer, Rebecca, Harrison, Rachel, Forde, Claire, Halliday, Dorothy, Hanson, Helen, Hay, Eleanor, Higgs, Jenny, Jones, Mari, Lalloo, Fiona, Miedzybrodzka, Zosia, Ong, Kai Ren, Pelz, Frauke, Ruddy, Deborah, Snape, Katie, Whitworth, James, Sandford, Richard N.

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Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes von Ruderfer, Douglas M., Boocock, James, Stahl, Eli A., Charney, Alexander W., Ori, Anil P.S., Alliey-Rodriguez, Ney, Anjorin, Adebayo, Badner, Judith A., Band, Gavin, Bruggeman, Richard, Buccola, Nancy G., Bumpstead, Suzannah J., Casas, Juan P., Chan, Raymond C.K., Chen, Ronald Y.L., Collier, David A., Cormican, Paul, Craddock, Nicholas, Crowley, James J., Curtis, David, Dannlowski, Udo, Davidson, Michael, Demontis, Ditte, Dronov, Serge, Elvsashagen, Torbjorn, Etain, Bruno, Fan, Chun Chieh, Forty, Liz, Fraser, Christine, Garnham, Julie, Gill, Michael, Gillman, Matthew, Gratten, Jacob, Gwilliam, Rhian, Hammer, Christian, Hansen, Thomas, Henskens, Frans A., Jamain, Stephane, Jankowski, Janusz, Joa, Inge, Julia, Antonio, Kandaswamy, Radhika, Kavanagh, David, Keller, Matthew C., Khrunin, Andrey, Lee, Phil H., Legge, Sophie E., Lencz, Todd, Levinson, Douglas F., Levy, Shawn E., Li, Tao, Lin, Kuang, Macek, Milan, McCarley, Robert W., McGuffin, Peter, McInnis, Melvin G., Meijer, Carin J., Melegh, Bela, Mesholam-Gately, Raquelle I., Myin-Germeys, Inez, Nicodemus, Kristin K., Nimgaonkar, Vishwajit, Nordin, Annelie, Nöthen, Markus M., Van Os, Jim, Owen, Michael J., Palmer, Colin N.A., Palotie, Aarno, Papadimitriou, George N., Pato, Michele T., Perlis, Roy H., Petryshen, Tracey L., Plomin, Robert, Potash, James B., Powell, John, Ramos-Quiroga, Josep Antoni, Rautanen, Anna, Reichenberg, Abraham, Ribases, Marta, Rice, John P., Richards, Alexander L., Ricketts, Michelle, Sanchez-Mora, Cristina, Sanders, Alan R., Schall, Ulrich, Serretti, Alessandro, Sham, Pak C., Straub, Richard E., Strauss, John S., Szatkiewicz, Jin P., Thompson, Robert C., Thorgeirsson, Thorgeir E., Treutlein, Jens, Vedder, Helmut, Wang, Qiang, Wu, Jing Qin, Sullivan, Patrick F., Wray, Naomi R., Sklar, Pamela, Kendler, Kenneth S.

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A systematic umbrella review and meta-meta-analysis of eHealth and mHealth interventions for improving lifestyle behaviours von Singh, Ben, Ahmed, Mavra, Staiano, Amanda E., Gough, Claire, Petersen, Jasmine, Vandelanotte, Corneel, Kracht, Chelsea, Huong, Christopher, Yin, Zenong, Vasiloglou, Maria F., Pan, Chen-Chia, Short, Camille E., Mclaughlin, Matthew, von Klinggraeff, Lauren, Pfledderer, Christopher D., Moran, Lisa J., Button, Alyssa M., Maher, Carol A.

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Emotional Distress Predicts Reduced Type 2 Diabetes Treatment Adherence in Glycemia Reduction Approaches in Diabetes: A Comparative Effectiveness Study (GRADE) von Hoogendoorn, Claire J, Krause-Steinrauf, Heidi, Uschner, Diane, Wen, Hui, Presley, Caroline A, Legowski, Elizabeth A, Naik, Aanand D, Golden, Sherita Hill, Arends, Valerie L, Brown-Friday, Janet, Krakoff, Jonathan A, Suratt, Colleen E, Waltje, Andrea H, Cherrington, Andrea L, Gonzalez, Jeffrey S

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Differential Effects of Type 2 Diabetes Treatment Regimens on Diabetes Distress and Depressive Symptoms in the Glycemia Reduction Approaches in Diabetes: A Comparative Effectivenes... von Gonzalez, Jeffrey S, Bebu, Ionut, Krause-Steinrauf, Heidi, Hoogendoorn, Claire J, Crespo-Ramos, Gladys, Presley, Caroline, Naik, Aanand D, Kuo, Shihchen, Johnson, Mary L, Wexler, Deborah, Crandall, Jill P, Bantle, Anne E, Arends, Valerie, Cherrington, Andrea L

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Long-term safety of pirfenidone: results of the prospective, observational PASSPORT study von Cottin, Vincent, Koschel, Dirk, Günther, Andreas, Albera, Carlo, Azuma, Arata, Sköld, C Magnus, Tomassetti, Sara, Hormel, Philip, Stauffer, John L, Strombom, Indiana, Kirchgaessler, Klaus-Uwe, Maher, Toby M

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Increasing the PACE of characterising novel transporters by functional genomics von Hassan, Karl A, Maher, Claire, Elbourne, Liam DH, Henderson, Peter JF, Paulsen, Ian T

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Does Emotional Distress Predict Worse Glycemic Control Over Time? Results From the Glycemia Reduction Approaches in Diabetes: A Comparative Effectiveness Study (GRADE) von Cherrington, Andrea L, Bebu, Ionut, Krause-Steinrauf, Heidi, Hoogendoorn, Claire J, Crespo-Ramos, Gladys, Presley, Caroline, Naik, Aanand D, Balasubramanyam, Ashok, Gramzinski, Michaela R, Killean, Tina, Arends, Valerie L, Gonzalez, Jeffrey S

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SNAPSHOT USA 2021: A third coordinated national camera trap survey of the United States von Shamon, Hila, Maor, Roi, Cove, Michael V., Kays, Roland, Adley, Jessie, Allen, David N., Appel, Cara L., Barr, Evan, Barthelmess, Erika L., Bastille‐Rousseau, Guillaume, Baugh, Madison E., Benson, John F., Bird, Tori, Bogan, Daniel A., Brandt, LaRoy S. E., Bresnan, Claire E., Chrysafis, Petros, Collins, Merri K., Conner, L. Mike, Darracq, Andrea K., Davis, Miranda L., DeGregorio, Brett A., Denningmann, Kimberly L., Dougherty, Kyle D., Driver, Ace, Edelman, Andrew J., Ellington, E. Hance, Fantle‐Lepczyk, Jean E., Farris, Zach J., Favreau, Jorie, Fernandez, Pilar, Fisher‐Reid, M. Caitlin, Fitzpatrick, Matthew C., Fritts, Sarah R., Giery, Sean T., Grady, Anna C., Green, Austin M., Griffin, Noel, Hansen, Lonnie P., Hasstedt, Steven C., Hernández‐Yáñez, Haydée, Horan, Robert V., Jackson, Victoria L., Johnson, Luanne, Jordan, Mark J., Kahano, Willaine, Koeck, Molly M., Kuhn, Kellie M., Kuprewicz, Erin K., Lafferty, Diana J. R., LaPoint, Scott D., Lashley, Marcus, Lee, Thomas E., Lepczyk, Christopher A., Lesmeister, Damon B., Long, Robert A., Mason, David S., Moll, Remington J., Moon, Jessica B., Mychajliw, Alexis M., Nagy, Christopher M., Nelson, Dana L., Nemes, Claire E., Nielsen, Clayton K., Olson, Elizabeth, O'Neill, Brian J., Page, Blake R., Parsons, Elizabeth, Pease, Brent S., Pendergast, Mary E., Proctor, Mike, Quick, Heather, Rega‐Brodsky, Christine C., Rentz, Michael S., Rezendes, Kylie, Rich, Daric, Risch, Derek R., Romero, Andrea, Rooney, Brigit R., Samples, Corey A., Schalk, Christopher M., Sekercioğlu, Çağan H., Sergeyev, Maksim, Smith, Austin B., Smith, Daniel S., Stenglein, Jennifer L., Stokes, Michael K., Stutzman, Johnathon S., Todd, Kimberly R., Vanek, John P., Varga, Wren, Wardle, Zachary M., Wehr, Nathaniel H., Whipple, Laura S., Whittier, Christopher A., Williamson, Jacque, Wilson, Andrew M., Wolf, Alexander J., Zimova, Marketa, McShea, William J.

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Two independent alleles at 6q23 associated with risk of rheumatoid arthritis von Plenge, Robert M, Cotsapas, Chris, Davies, Leela, Price, Alkes L, de Bakker, Paul I W, Maller, Julian, Pe'er, Itsik, Burtt, Noel P, Blumenstiel, Brendan, DeFelice, Matt, Parkin, Melissa, Barry, Rachel, Winslow, Wendy, Healy, Claire, Graham, Robert R, Neale, Benjamin M, Izmailova, Elena, Roubenoff, Ronenn, Parker, Alexander N, Glass, Roberta, Karlson, Elizabeth W, Maher, Nancy, Hafler, David A, Lee, David M, Seldin, Michael F, Remmers, Elaine F, Lee, Annette T, Padyukov, Leonid, Alfredsson, Lars, Coblyn, Jonathan, Weinblatt, Michael E, Gabriel, Stacey B, Purcell, Shaun, Klareskog, Lars, Gregersen, Peter K, Shadick, Nancy A, Daly, Mark J, Altshuler, David

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Development of Potent and Selective Pyrazolopyrimidine IRAK4 Inhibitors von Bryan, Marian C, Drobnick, Joy, Gobbi, Alberto, Kolesnikov, Aleksandr, Chen, Yongsheng, Rajapaksa, Naomi, Ndubaku, Chudi, Feng, Jianwen, Chang, Willy, Francis, Ross, Yu, Christine, Choo, Edna F, DeMent, Kevin, Ran, Yingqing, An, Le, Emson, Claire, Huang, Zhiyu, Sujatha-Bhaskar, Swathi, Brightbill, Hans, DiPasquale, Antonio, Maher, Jonathan, Wai, John, McKenzie, Brent S, Lupardus, Patrick J, Zarrin, Ali A, Kiefer, James R

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Adjuvant rituximab and elevated intratumoural CD8 expression are associated with sustained disease control after radiotherapy in a randomised trial of systemic therapy in early-sta... von MacManus, Michael P., Seymour, John F., Tsang, Hennes, Fisher, Richard, Keane, Colm, Sabdia, Muhammed B., Law, Soi C., Gunawardana, Jay, Nath, Karthik, Kazakoff, Stephen H., Marques-Piubelli, Mario L., Duenas, Daniela E., Green, Michael R., Roos, Daniel, O'Brien, Peter, McCann, Andrew, Tsang, Richard, Davis, Sidney, Christie, David, Cheah, Chan, Amanuel, Benhur, Cochrane, Tara, Butler, Jason, Johnston, Anna, Shanavas, Mohamed, Li, Li, Vajdic, Claire, Kridel, Robert, Shelton, Victoria, Hershenfield, Samantha, Baetz, Tara, Lebrun, David, Johnson, Nathalie, Brodtkorb, Marianne, Ludvigsen, Maja, d’Amore, Francesco, Thompson, Ella R., Blombery, Piers, Gandhi, Maher K., Tobin, Joshua W.D.

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures von Duarte, Sofia T., Charles, Perinne, Pfundt, Rolph, van Bokhoven, Hans, van Ravenswaaij-Arts, Conny, Morrell, Nicholas W., Thrasher, Adrian, Fletcher, Debra, Veltman, Marijke, Davis, John, Frary, Amy, Martin, Jennifer M., Collins, Janine, Favier, Remi, Hart, Daniel, Heemskerk, Johan W.M., Liesner, Ri, Mangles, Sarah, Roughley, Catherine, Tait, R. Campbell, Thachil, Jecko, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Furnell, Abigail, Mapeta, Rutendo, Whitehorn, Deborah, Daugherty, Louise, Deevi, Sri V.V., Hu, Fengyuan, Matser, Vera, Megy, Karyn, Tuna, Salih, von Ziegenweldt, Julie, Haimel, Matthias, Richardson, Sylvia, Rankin, Stuart, Anderson, Julie, Stock, Sophie, Armstrong, Ruth, Bitner-Glindzicz, Maria, Brady, Angie, Clement, Emma, Firth, Helen, Flinter, Frances, French, Courtney, Holder, Muriel, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Mehta, Sarju, Moore, Anthony, Rankin, Julia, Reid, Evan, Scott, Richard, Thomas, Ellen, Wassmer, Evangeline, Creaser-Myers, Amanda, Gall, Henning, Ghataorhe, Pavandeep K., Houweling, Arjan C., in’t Veld, Anna Huis, Ross, Rob V. Mackenzie, Rhodes, Christopher J., Soubrier, Florent, Treacy, Carmen M., Vonk Noordegraaf, Anton, Antrobus, Richard, Arumugakani, Gururaj, Bibi, Shahnaz, Devlin, Lisa, Ghurye, Rohit, Grigoriadou, Sofia, Harper, Lorraine, Herwadkar, Archana, Jolles, Stephen, Kumararatne, Dinakantha, Lorenzo, Lorena, Murng, Sai, Nejentsev, Sergey, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Yong, Patrick, Ancliff, Phil, Layton, Mark, Mead, Adam, Roy, Noémi, Chambers, Jenny, Estiu, Cecelia, Simpson, Michael, Emmerson, Ingrid, McCarthy, Mark, Van Zuydam, Natalie, Afzal, Maryam, Colby, Elizabeth, Boycott, Kym M., Majewski, Jacek, Dyment, David

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Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression von Rocha, Nuno, Bulger, David A, Frontini, Andrea, Titheradge, Hannah, Gribsholt, Sigrid Bjerge, Knox, Rachel, Page, Matthew, Harris, Julie, Payne, Felicity, Adams, Claire, Sleigh, Alison, Crawford, John, Gjesing, Anette Prior, Bork-Jensen, Jette, Pedersen, Oluf, Barroso, Inês, Hansen, Torben, Cox, Helen, Reilly, Mary, Rossor, Alex, Brown, Rebecca J, Taylor, Simeon I, McHale, Duncan, Armstrong, Martin, Oral, Elif A, Saudek, Vladimir, O'Rahilly, Stephen, Maher, Eamonn R, Richelsen, Bjørn, Savage, David B, Semple, Robert K

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Discovery of Potent Benzolactam IRAK4 Inhibitors with Robust in Vivo Activity von Rajapaksa, Naomi S, Gobbi, Alberto, Drobnick, Joy, Do, Steven, Kolesnikov, Aleksandr, Liang, Jun, Chen, Yongsheng, Sujatha-Bhaskar, Swathi, Huang, Zhiyu, Brightbill, Hans, Francis, Ross, Yu, Christine, Choo, Edna F, DeMent, Kevin, Ran, Yingqing, An, Le, Emson, Claire, Maher, Jonathan, Wai, John, McKenzie, Brent S, Lupardus, Patrick J, Zarrin, Ali A, Kiefer, James R, Bryan, Marian C

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