A logical network-based drug-screening platform for Alzheimer’s disease representing pathological features of human brain organoids von Park, Jong-Chan, Jang, So-Yeong, Lee, Dongjoon, Lee, Jeongha, Kang, Uiryong, Chang, Hongjun, Kim, Haeng Jun, Han, Sun-Ho, Seo, Jinsoo, Choi, Murim, Lee, Dong Young, Byun, Min Soo, Yi, Dahyun, Cho, Kwang-Hyun, Mook-Jung, Inhee

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Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism von Scholl, Ute I, Stölting, Gabriel, Nelson-Williams, Carol, Vichot, Alfred A, Choi, Murim, Loring, Erin, Prasad, Manju L, Goh, Gerald, Carling, Tobias, Juhlin, C Christofer, Quack, Ivo, Rump, Lars C, Thiel, Anne, Lande, Marc, Frazier, Britney G, Rasoulpour, Majid, Bowlin, David L, Sethna, Christine B, Trachtman, Howard, Fahlke, Christoph, Lifton, Richard P

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Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation von Romberg, Neil, Al Moussawi, Khatoun, Nelson-Williams, Carol, Stiegler, Amy L, Loring, Erin, Choi, Murim, Overton, John, Meffre, Eric, Khokha, Mustafa K, Huttner, Anita J, West, Brian, Podoltsev, Nikolai A, Boggon, Titus J, Kazmierczak, Barbara I, Lifton, Richard P

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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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Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition von Zhao, Siming, Bellone, Stefania, Lopez, Salvatore, Thakral, Durga, Schwab, Carlton, English, Diana P., Black, Jonathan, Cocco, Emiliano, Choi, Jungmin, Zammataro, Luca, Predolini, Federica, Bonazzoli, Elena, Bi, Mark, Buza, Natalia, Hui, Pei, Wong, Serena, Abu-Khalaf, Maysa, Ravaggi, Antonella, Bignotti, Eliana, Bandiera, Elisabetta, Romani, Chiara, Todeschini, Paola, Tassi, Renata, Zanotti, Laura, Odicino, Franco, Pecorelli, Sergio, Donzelli, Carla, Ardighieri, Laura, Facchetti, Fabio, Falchetti, Marcella, Silasi, Dan-Arin, Ratner, Elena, Azodi, Masoud, Schwartz, Peter E., Mane, Shrikant, Angioli, Roberto, Terranova, Corrado, Quick, Charles Matthew, Edraki, Babak, Bilgüvar, Kaya, Lee, Moses, Choi, Murim, Stiegler, Amy L., Boggon, Titus J., Schlessinger, Joseph, Lifton, Richard P., Santin, Alessandro D.

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Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism von Scholl, Ute I, Goh, Gerald, Stölting, Gabriel, de Oliveira, Regina Campos, Choi, Murim, Overton, John D, Fonseca, Annabelle L, Korah, Reju, Starker, Lee F, Kunstman, John W, Prasad, Manju L, Hartung, Erum A, Mauras, Nelly, Benson, Matthew R, Brady, Tammy, Shapiro, Jay R, Loring, Erin, Nelson-Williams, Carol, Libutti, Steven K, Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Fahlke, Christoph, Hidalgo, Patricia, Lifton, Richard P

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K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension von Choi, Murim, Scholl, Ute I, Yue, Peng, Björklund, Peyman, Zhao, Bixiao, Nelson-Williams, Carol, Ji, Weizhen, Cho, Yoonsang, Patel, Aniruddh, Men, Clara J, Lolis, Elias, Wisgerhof, Max V, Geller, David S, Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Wang, Wenhui, Carling, Tobias, Lifton, Richard P

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Isolated polycystic liver disease genes define effectors of polycystin-1 function von Besse, Whitney, Dong, Ke, Choi, Jungmin, Punia, Sohan, Fedeles, Sorin V, Choi, Murim, Gallagher, Anna-Rachel, Huang, Emily B, Gulati, Ashima, Knight, James, Mane, Shrikant, Tahvanainen, Esa, Tahvanainen, Pia, Sanna-Cherchi, Simone, Lifton, Richard P, Watnick, Terry, Pei, York P, Torres, Vicente E, Somlo, Stefan

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing von Choi, Murim, Scholl, Ute I, Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R, Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Aysin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P

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Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing von Kunstman, John W, Juhlin, C Christofer, Goh, Gerald, Brown, Taylor C, Stenman, Adam, Healy, James M, Rubinstein, Jill C, Choi, Murim, Kiss, Nimrod, Nelson-Williams, Carol, Mane, Shrikant, Rimm, David L, Prasad, Manju L, Höög, Anders, Zedenius, Jan, Larsson, Catharina, Korah, Reju, Lifton, Richard P, Carling, Tobias

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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption von Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X, Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C, Avila-Casado, Carmen, Paterson, Andrew D, Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Otto, Edgar A, Barua, Moumita, Al-Hamed, Mohamed H, Kari, Jameela A, Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A, Böckenhauer, Detlef, Kleta, Robert, El Desoky, Sherif, Hacihamdioglu, Duygu O, Gok, Faysal, Washburn, Joseph, Wiggins, Roger C, Choi, Murim, Lifton, Richard P, Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S, Pollak, Martin, Clarke, Catherine F, Pei, York, Antignac, Corinne, Hildebrandt, Friedhelm

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Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes von Lee, Jin Sook, Yoo, Taekyeong, Lee, Moses, Lee, Youngha, Jeon, Eunyoung, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Chae, Jong‐Hee

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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms von Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E., Pestronk, Alan, Rosenfeld, Jill A., Burrage, Lindsay, Herndon, Mitchell J., Chen, Shan, Shillington, Amelle, Vawter-Lee, Marissa, Hopkin, Robert, Rodriguez-Smith, Jackeline, Henrickson, Michael, Lee, Brendan, Moser, Ann B., Jones, Richard O., Watkins, Paul, Yoo, Taekyeong, Mar, Soe, Choi, Murim, Bucelli, Robert C., Yamamoto, Shinya, Lee, Hyun Kyoung, Prada, Carlos E., Chae, Jong-Hee, Vogel, Tiphanie P., Bellen, Hugo J.

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Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors von Goh, Gerald, Scholl, Ute I, Healy, James M, Choi, Murim, Prasad, Manju L, Nelson-Williams, Carol, Kunstman, John W, Korah, Reju, Suttorp, Anna-Carinna, Dietrich, Dimo, Haase, Matthias, Willenberg, Holger S, Stålberg, Peter, Hellman, Per, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Lifton, Richard P

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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities von Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.

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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 von Scholl, Ute I, Choi, Murim, Liu, Tiewen, Ramaekers, Vincent T, Häusler, Martin G, Grimmer, Joanne, Tobe, Sheldon W, Farhi, Anita, Nelson-Williams, Carol, Lifton, Richard P

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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning von Fakhro, Khalid A., Choi, Murim, Ware, Stephanie M., Belmont, John W., Towbin, Jeffrey A., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina

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Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population von Lee, Sangmoon, Seo, Jihae, Park, Jinman, Nam, Jae-Yong, Choi, Ahyoung, Ignatius, Jason S., Bjornson, Robert D., Chae, Jong-Hee, Jang, In-Jin, Lee, Sanghyuk, Park, Woong-Yang, Baek, Daehyun, Choi, Murim

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Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma von Zhao, Siming, Choi, Murim, Overton, John D., Bellone, Stefania, Roque, Dana M., Cocco, Emiliano, Guzzo, Federica, English, Diana P., Varughese, Joyce, Gasparrini, Sara, Bortolomai, Ileana, Buza, Natalia, Hui, Pei, Abu-Khalaf, Maysa, Ravaggi, Antonella, Bignotti, Eliana, Bandiera, Elisabetta, Romani, Chiara, Todeschini, Paola, Tassi, Renata, Zanotti, Laura, Carrara, Luisa, Pecorelli, Sergio, Silasi, Dan-Arin, Ratner, Elena, Azodi, Masoud, Schwartz, Peter E., Rutherford, Thomas J., Stiegler, Amy L., Mane, Shrikant, Boggon, Titus J., Schlessinger, Joseph, Lifton, Richard P., Santin, Alessandro D.

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Defining the phenotypic spectrum of SLC6A1 mutations von Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.

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