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    Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy by Lesage, Suzanne, Deramecourt, Vincent, Jacoupy, Maxime, Hassoun, Sidi Mohamed, Pujol, Claire, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Corvol, Jean-Christophe, Krack, Paul, Hernandez, Dena G., Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Corti, Olga, Brice, Alexis, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Vérin, Marc, Viallet, François, Brice, Alexis, Majounie, Elisa, Corvol, Jean Christophe, Ben-Shlomo, Yoav, Berg, Daniela, Bhatia, Kailash, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Burn, David J., Chen, Honglei, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, van Dijk, Karin D., Dong, Jing, Escott-Price, Valentina, Evans, Jonathan R., Gray, Emma, Guerreiro, Rita, van Hilten, Jacobus J., Hollenbeck, Albert, Holmans, Peter, Hu, Michèle, Hudson, Gavin, Hunt, Sarah E., Kilarski, Laura L., Jansen, Iris E., Langford, Cordelia, Lees, Andrew, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, O’Sullivan, Sean S., Pearson, Justin, Ravina, Bernard, Rivadeneira, Fernando, Ryten, Mina, Schapira, Anthony, Sharma, Manu, Sheerin, Una-Marie, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Kári, Strange, Amy, Talbot, Kevin, Trabzuni, Daniah, Uitterlinden, André G., van de Warrenburg, Bart, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Hardy, John, Wood, Nicholas W.

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    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease by Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.

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    Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans by Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher

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    Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations by Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy

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    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

    Published in Nature communications
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    Magnetic Resonance Imaging Measures to Track Atrophy Progression in Progressive Supranuclear Palsy in Clinical Trials by Franzmeier, Nicolai, Williams, David, Lafontaine, Anne Louise, Marras, Connie, Panisset, Michael, Azulay, Jean‐Philippe, Mollenhauer, Brit, Benecke, Reiner, Höglinger, Günter, Lipp, Axel, Chan, Dennis, Burn, David, Lees, Andrew, Boxer, Adam, Honig, Lawrence, Zamrini, Edward, Lessig, Stephanie, Lew, Mark, Boeve, Brad, Ferrara, Joseph, Golbe, Lawrence, Leegwater‐Kim, Julie, Litvan, Irene, Grossman, Murray, Miller, Bruce L., Golbe, Lawrence I., Koestler, Mary, Van Deerlin, Viviana, Whitaker, Steve, Hirman, Joe, Gold, Michael, Morimoto, Bruce H., Gómez, J.C., Ybot, I., Aguilar, M., Boada, M., Höllerhage, M., Respondek, G., Knake, S., Maetzler, W., Kassubek, J., Burn, D.J., Morris, L., Ling, H., Strycharczuk, L., Antonini, Angelo, Azulay, Jean‐Philippe, Martinez, Ernest Balaguer, Bang, Jee, Barrett, Matthew, Bordelon, Yvette, Boxer, Adam L., Brandt, Moritz, Castelnovo, Giovanni, Cudia, Paola, Evans, Andrew H., Finger, Elizabeth, Golbe, Lawrence, Hall, Deborah, Honig, Lawrence, Houghton, David, Lang, Anthony E., Leigh, Peter Nigel, Litvan, Irene, Moreno, Jose Luis Lopez‐Sendon, Piudo, Ma Rosario Luquin, Molho, Eric, Morris, Huw R., Magne, Fabienne Ory, Pavese, Nicola, Pokhabov, Dmitry, Prudlo, Johannes, Rodriguez‐Porcel, Federico, Rowe, James, Savitt, Joseph, Schulz, Joerg B., Seppi, Klaus, Shill, Holly, Steiger, Malcolm, Takigawa, Hiroshi, Tartaglia, Carmela, Toenges, Lars, Truong, Daniel, Wills, Anne‐Marie A., Xie, Tao, Yuasa, Tatsuhiko, Ersözlü, Ersin, Spruth, Eike Jakob, Spottke, Annika, Benennen, Bitte, Buerger, Katharina, Katzdobler, Sabrina, Jäck, Alexander, Kilimann, Ingo, Synofzik, Matthis, Hoffmann, Daniel C., Lüsebrink, Falk, Klockgether, Thomas, Höglinger, Günter U., Boxer, Adam L.

    Published in Movement disorders
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