Proteasome inhibition can induce an autophagy-dependent apical activation of caspase-8 von Laussmann, M A, Passante, E, Düssmann, H, Rauen, J A, Würstle, M L, Delgado, M E, Devocelle, M, Prehn, J H M, Rehm, M

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation von Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

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Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development von Siegel, D.H., Mann, J.A., Krol, A.L., Rauen, K.A.

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Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome von Siegel, D.H., McKenzie, J., Frieden, I.J., Rauen, K.A.

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Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits von Liu, Lili, Khan, Atlas, Sanchez-Rodriguez, Elena, Zanoni, Francesca, Li, Yifu, Steers, Nicholas, Balderes, Olivia, Zhang, Junying, Krithivasan, Priya, LeDesma, Robert A., Fischman, Clara, Hebbring, Scott J., Harley, John B., Moncrieffe, Halima, Kottyan, Leah C., Namjou-Khales, Bahram, Walunas, Theresa L., Knevel, Rachel, Raychaudhuri, Soumya, Karlson, Elizabeth W., Denny, Joshua C., Stanaway, Ian B., Crosslin, David, Rauen, Thomas, Floege, Jürgen, Eitner, Frank, Moldoveanu, Zina, Reily, Colin, Knoppova, Barbora, Hall, Stacy, Sheff, Justin T., Julian, Bruce A., Wyatt, Robert J., Suzuki, Hitoshi, Xie, Jingyuan, Chen, Nan, Zhou, Xujie, Zhang, Hong, Hammarström, Lennart, Viktorin, Alexander, Magnusson, Patrik K. E., Shang, Ning, Hripcsak, George, Weng, Chunhua, Rundek, Tatjana, Elkind, Mitchell S. V., Oelsner, Elizabeth C., Barr, R. Graham, Ionita-Laza, Iuliana, Novak, Jan, Gharavi, Ali G., Kiryluk, Krzysztof

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Translating multiscale research in rare disease von Hooper, Kirsty M, Justice, Monica J, Lek, Monkol, Liu, Karen J, Rauen, Katherine A

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Extended porphyrinoid chromophores: heteroporphyrins fused to phenanthrene and acenaphthylene von Lash, Timothy D., Rauen, Patrick J.

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Costello syndrome: Clinical phenotype, genotype, and management guidelines von Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.

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Sex and gender differences in Alzheimer's disease: current challenges and implications for clinical practice Position paper of the Dementia and Cognitive Disorders Panel of the Eur... von Ferretti, M. T., Martinkova, J., Biskup, E., Benke, T., Gialdini, G., Nedelska, Z., Rauen, K., Mantua, V., Religa, D., Hort, J., Chadha, A., Schmidt, R.

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Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens von Kiryluk, Krzysztof, Li, Yifu, Scolari, Francesco, Sanna-Cherchi, Simone, Choi, Murim, Verbitsky, Miguel, Fasel, David, Lata, Sneh, Prakash, Sindhuri, Shapiro, Samantha, Fischman, Clara, Snyder, Holly J, Appel, Gerald, Izzi, Claudia, Viola, Battista Fabio, Dallera, Nadia, Del Vecchio, Lucia, Barlassina, Cristina, Salvi, Erika, Bertinetto, Francesca Eleonora, Amoroso, Antonio, Savoldi, Silvana, Rocchietti, Marcella, Amore, Alessandro, Peruzzi, Licia, Coppo, Rosanna, Salvadori, Maurizio, Ravani, Pietro, Magistroni, Riccardo, Ghiggeri, Gian Marco, Caridi, Gianluca, Bodria, Monica, Lugani, Francesca, Allegri, Landino, Delsante, Marco, Maiorana, Mariarosa, Magnano, Andrea, Frasca, Giovanni, Boer, Emanuela, Boscutti, Giuliano, Ponticelli, Claudio, Mignani, Renzo, Marcantoni, Carmelita, Di Landro, Domenico, Santoro, Domenico, Pani, Antonello, Polci, Rosaria, Feriozzi, Sandro, Chicca, Silvana, Galliani, Marco, Gigante, Maddalena, Gesualdo, Loreto, Zamboli, Pasquale, Battaglia, Giovanni Giorgio, Garozzo, Maurizio, Maixnerová, Dita, Tesar, Vladimir, Eitner, Frank, Rauen, Thomas, Floege, Jürgen, Kovacs, Tibor, Nagy, Judit, Mucha, Krzysztof, Pączek, Leszek, Zaniew, Marcin, Mizerska-Wasiak, Małgorzata, Roszkowska-Blaim, Maria, Pawlaczyk, Krzysztof, Gale, Daniel, Barratt, Jonathan, Thibaudin, Lise, Berthoux, Francois, Canaud, Guillaume, Boland, Anne, Metzger, Marie, Panzer, Ulf, Suzuki, Hitoshi, Goto, Shin, Narita, Ichiei, Caliskan, Yasar, Xie, Jingyuan, Hou, Ping, Chen, Nan, Zhang, Hong, Wyatt, Robert J, Novak, Jan, Julian, Bruce A, Feehally, John, Stengel, Benedicte, Cusi, Daniele, Lifton, Richard P, Gharavi, Ali G

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation von Plotkin, Scott R., Messiaen, Ludwine, Legius, Eric, Pancza, Patrice, Avery, Robert A., Blakeley, Jaishri O., Babovic-Vuksanovic, Dusica, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Giovannini, Marco, Gutmann, David H., Hanemann, Clemens Oliver, Kalamarides, Michel, Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, MacCollin, Mia, Papi, Laura, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Smith, Miriam J., Stemmer-Rachamimov, Anat, Stevenson, David A., Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M., Wolkenstein, Pierre, Evans, Dafydd Gareth

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Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth von Urban, J., Qi, L., Zhao, H., Rybak, I., Rauen, K.A., Kiuru, M.

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? von Nowaczyk, M.J.M., Thompson, B.A., Zeesman, S., Moog, U., Sanchez-Lara, P.A., Magoulas, P.L., Falk, R.E., Hoover-Fong, J.E., Batista, D.A.S., Amudhavalli, S.M., White, S.M., Graham, G.E., Rauen, K.A.

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Sensitivity of outcome instruments in a priori selected patient groups after traumatic brain injury: Results from the CENTER-TBI study von von Steinbuechel, Nicole, Rauen, Katrin, Covic, Amra, Krenz, Ugne, Bockhop, Fabian, Mueller, Isabelle, Cunitz, Katrin, Polinder, Suzanne, Steyerberg, Ewout W, Vester, Johannes, Zeldovich, Marina

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Dihydropyracyloporphyrins von Rauen, Patrick J., Lash, Timothy D.

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Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework von Grant, Andrew R., Cushman, Brandon J., Cavé, Hélène, Dillon, Mitchell W., Gelb, Bruce D., Gripp, Karen W., Lee, Jennifer A., Mason‐Suares, Heather, Rauen, Katherine A., Tartaglia, Marco, Vincent, Lisa M., Zenker, Martin

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Author Correction: Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits von Liu, Lili, Khan, Atlas, Sanchez-Rodriguez, Elena, Zanoni, Francesca, Li, Yifu, Steers, Nicholas, Balderes, Olivia, Zhang, Junying, Krithivasan, Priya, LeDesma, Robert A., Fischman, Clara, Hebbring, Scott J., Harley, John B., Moncrieffe, Halima, Kottyan, Leah C., Namjou-Khales, Bahram, Walunas, Theresa L., Knevel, Rachel, Raychaudhuri, Soumya, Karlson, Elizabeth W., Denny, Joshua C., Stanaway, Ian B., Crosslin, David, Rauen, Thomas, Floege, Jürgen, Eitner, Frank, Moldoveanu, Zina, Reily, Colin, Knoppova, Barbora, Hall, Stacy, Sheff, Justin T., Julian, Bruce A., Wyatt, Robert J., Suzuki, Hitoshi, Xie, Jingyuan, Chen, Nan, Zhou, Xujie, Zhang, Hong, Hammarström, Lennart, Viktorin, Alexander, Magnusson, Patrik K. E., Shang, Ning, Hripcsak, George, Weng, Chunhua, Rundek, Tatjana, Elkind, Mitchell S. V., Oelsner, Elizabeth C., Barr, R. Graham, Ionita-Laza, Iuliana, Novak, Jan, Gharavi, Ali G., Kiryluk, Krzysztof

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MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus von de Blank, Peter M K, Gross, Andrea M, Akshintala, Srivandana, Blakeley, Jaishri O, Bollag, Gideon, Cannon, Ashley, Dombi, Eva, Fangusaro, Jason, Gelb, Bruce D, Hargrave, Darren, Kim, AeRang, Klesse, Laura J, Loh, Mignon, Martin, Staci, Moertel, Christopher, Packer, Roger, Payne, Jonathan M, Rauen, Katherine A, Rios, Jonathan J, Robison, Nathan, Schorry, Elizabeth K, Shannon, Kevin, Stevenson, David A, Stieglitz, Elliot, Ullrich, Nicole J, Walsh, Karin S, Weiss, Brian D, Wolters, Pamela L, Yohay, Kaleb, Yohe, Marielle E, Widemann, Brigitte C, Fisher, Michael J

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GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway von Kiryluk, Krzysztof, Li, Yifu, Moldoveanu, Zina, Suzuki, Hitoshi, Reily, Colin, Hou, Ping, Xie, Jingyuan, Mladkova, Nikol, Prakash, Sindhuri, Fischman, Clara, Shapiro, Samantha, LeDesma, Robert A, Bradbury, Drew, Ionita-Laza, Iuliana, Eitner, Frank, Rauen, Thomas, Maillard, Nicolas, Berthoux, Francois, Floege, Jürgen, Chen, Nan, Zhang, Hong, Scolari, Francesco, Wyatt, Robert J, Julian, Bruce A, Gharavi, Ali G, Novak, Jan

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Autism traits in the RASopathies von Adviento, Brigid, Corbin, Iris L, Widjaja, Felicia, Desachy, Guillaume, Enrique, Nicole, Rosser, Tena, Risi, Susan, Marco, Elysa J, Hendren, Robert L, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A

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