COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis von Watkin, Levi B, Jessen, Birthe, Wiszniewski, Wojciech, Vece, Timothy J, Jan, Max, Sha, Youbao, Thamsen, Maike, Santos-Cortez, Regie L P, Lee, Kwanghyuk, Gambin, Tomasz, Forbes, Lisa R, Law, Christopher S, Stray-Pedersen, Asbjørg, Cheng, Mickie H, Mace, Emily M, Anderson, Mark S, Liu, Dongfang, Tang, Ling Fung, Nicholas, Sarah K, Nahmod, Karen, Makedonas, George, Canter, Debra L, Kwok, Pui-Yan, Hicks, John, Jones, Kirk D, Penney, Samantha, Jhangiani, Shalini N, Rosenblum, Michael D, Dell, Sharon D, Waterfield, Michael R, Papa, Feroz R, Muzny, Donna M, Zaitlen, Noah, Leal, Suzanne M, Gonzaga-Jauregui, Claudia, Boerwinkle, Eric, Eissa, N Tony, Gibbs, Richard A, Lupski, James R, Orange, Jordan S, Shum, Anthony K

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome von White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.

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Global analyses of human immune variation reveal baseline predictors of postvaccination responses von Tsang, John S, Schwartzberg, Pamela L, Kotliarov, Yuri, Biancotto, Angelique, Xie, Zhi, Germain, Ronald N, Wang, Ena, Olnes, Matthew J, Narayanan, Manikandan, Golding, Hana, Moir, Susan, Dickler, Howard B, Perl, Shira, Cheung, Foo

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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome von White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles von Coban-Akdemir, Zeynep, White, Janson J., Song, Xiaofei, Jhangiani, Shalini N., Fatih, Jawid M., Gambin, Tomasz, Bayram, Yavuz, Chinn, Ivan K., Karaca, Ender, Punetha, Jaya, Poli, Cecilia, Boerwinkle, Eric, Shaw, Chad A., Orange, Jordan S., Gibbs, Richard A., Lappalainen, Tuuli, Lupski, James R., Carvalho, Claudia M.B.

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Constraints on Cosmic Strings Using Data from the Third Advanced LIGO-Virgo Observing Run von Camp, J B, Singer, L P, Littenberg, T B

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia von Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger, Marcus, Jhangiani, Shalini N., Muzny, Donna M., Patel, Ankita, Raymond, Kimiyo M., Sasa, Ghadir S., Krance, Robert A., Martinez, Caridad A., Abraham, Shirley M., Speckmann, Carsten, Ehl, Stephan, Hall, Patricia, Forbes, Lisa R., Merckoll, Else, Westvik, Jostein, Nishimura, Gen, Rustad, Cecilie F., Abrahamsen, Tore G., Rønnestad, Arild, Osnes, Liv T., Egeland, Torstein, Rødningen, Olaug K., Beck, Christine R., Boerwinkle, Eric A., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Lausch, Ekkehart, Hanson, I. Celine

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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability von Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., Schaaf, Christian P.

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Prediction of pellet mass thresholds for ELM triggering in low-collisionality, ITER-like discharges von Wingen, A., Wilcox, R.S., Lyons, B.C., Baylor, L.R., Ferraro, N.M.

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Electron Microscope Study of Sperm. von Baylor, M. R. B., Nalbandov, A., Clark, G. L.

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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy von Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini N., Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J., Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.

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Search for intermediate-mass black hole binaries in the third observing run of Advanced LIGO and Advanced Virgo von Abbott, R., Abbott, T. D., Acernese, F., Ackley, K., Adams, C., Adhikari, N., Adhikari, R. X., Adya, V. B., Affeldt, C., Agarwal, D., Agathos, M., Agatsuma, K., Aggarwal, N., Aguiar, O. D., Aiello, L., Ain, A., Ajith, P., Akutsu, T., Albanesi, S., Allocca, A., Altin, P. A., Amato, A., Anand, C., Anand, S., Ananyeva, A., Anderson, S. B., Anderson, W. G., Ando, M., Andrade, T., Andres, N., Andrić, T., Angelova, S. V., Ansoldi, S., Antelis, J. M., Antier, S., Appert, S., Arai, K., Arai, Y., Araki, S., Araya, A., Araya, M. C., Areeda, J. S., Arène, M., Aritomi, N., Arnaud, N., Aronson, S. M., Arun, K. G., Asada, H., Asali, Y., Ashton, G., Aso, Y., Assiduo, M., Aston, S. M., Astone, P., Aubin, F., Austin, C., Babak, S., Badaracco, F., Bader, M. K. M., Badger, C., Bae, S., Bae, Y., Baer, A. M., Bagnasco, S., Bai, Y., Baiotti, L., Baird, J., Bajpai, R., Ball, M., Ballardin, G., Ballmer, S. W., Balsamo, A., Baltus, G., Banagiri, S., Bankar, D., Barayoga, J. C., Barbieri, C., Barish, B. C., Barker, D., Barneo, P., Barone, F., Barr, B., Barsotti, L., Barsuglia, M., Barta, D., Bartlett, J., Barton, M. A., Bartos, I., Bassiri, R., Basti, A., Bawaj, M., Bayley, J. C., Baylor, A. C., Bazzan, M., Bécsy, B., Bedakihale, V. M., Bejger, M., Belahcene, I., Benedetto, V., Beniwal, D.

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All-sky search in early O3 LIGO data for continuous gravitational-wave signals from unknown neutron stars in binary systems von Acernese, F., Affeldt, C., Ajith, P., Anderson, W. G., Aronson, S. M., Aufmuth, P., Banagiri, S., Bankar, D., Bejger, M., Bode, N., Bork, R., Boudart, V., Branch, A., Breschi, M., Bruno, G., Camp, J. B., Carney, M. F., Diaz, J. Casanueva, Chia, H. Y., Cho, G., Cho, H. S., Clearwater, P., Cohen, L., Colleoni, M., Cuoco, E., Davies, G. S., Lillo, N. De, Demos, N., Girolamo, T. Di, Doctor, Z., Eisenmann, M., Evans, T. M., Frasca, S., Fritschel, P., Gadre, B. U., George, J., Ghonge, S., Gier, C., Grassia, P., Gray, C., Green, R., Gretarsson, E. M., Haegel, L., Hasskew, R. K., Healy, J., Hsu, Y., Hughey, B., Hui, V., Kang, G., Karathanasis, C., Katzman, W., Keitel, D., Khetan, N., Kimball, C., McCarthy, R., Melchor, D. A., Messenger, C., Michaloliakos, I., Mours, B., Mow-Lowry, C. M., Neil, B. F., Oganesyan, G., Osthelder, C., Overmier, H., Pace, A. E., Pagliaroli, G., Pai, A., Palomba, C., Raaijmakers, G., Ratto, B., Rocchi, A., Romero-Shaw, I. M., Rose, C. A., Sachdev, S., Sadecki, T., Sanuy, A., Sawant, D., Sawant, H. L., Schmidt, P., Schnabel, R., Sergeev, A., Sentenac, D., Sharifi, S., Shcheblanov, N. S., Sigg, D., Sintes, A. M., Sipala, V., Soulard, R., Stachie, C., Stuver, A. L., Sun, L., Swinkels, B. L., Tonelli, M., Valentini, M., Vecchio, A., Verma, Y., Wagner, K. J., Yap, M. J., Yoon, A., Zhang, L.

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Paralog Studies Augment Gene Discovery: DDX and DHX Genes von Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.

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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis von Bayram, Yavuz, White, Janson J., Elcioglu, Nursel, Cho, Megan T., Zadeh, Neda, Gedikbasi, Asuman, Palanduz, Sukru, Ozturk, Sukru, Cefle, Kivanc, Kasapcopur, Ozgur, Coban Akdemir, Zeynep, Pehlivan, Davut, Begtrup, Amber, Carvalho, Claudia M.B., Paine, Ingrid Sophie, Mentes, Ali, Bektas-Kayhan, Kivanc, Karaca, Ender, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy von Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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RMP ELM suppression in DIII-D plasmas with ITER similar shapes and collisionalities von Evans, T.E, Fenstermacher, M.E, Moyer, R.A, Osborne, T.H, Watkins, J.G, Gohil, P, Joseph, I, Schaffer, M.J, Baylor, L.R, Bécoulet, M, Boedo, J.A, Burrell, K.H, deGrassie, J.S, Finken, K.H, Jernigan, T, Jakubowski, M.W, Lasnier, C.J, Lehnen, M, Leonard, A.W, Lonnroth, J, Nardon, E, Parail, V, Schmitz, O, Unterberg, B, West, W.P

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Search for Gravitational Waves Associated with Gamma-Ray Bursts Detected by Fermi and Swift during the LIGO–Virgo Run O3b von Anand, S., Ando, M., Banagiri, S., Barker, D., Bawaj, M., Bécsy, B., Bertolini, A., Bonavena, L. D., Branch, A., Byer, R. L., Chan, K., Chen, J., Chiadini, F., Corban, P., Corley, K. R., Renzo, F. Di, Dorrington, I., Ducoin, J.-G., Dupej, P., Eichholz, J., Farah, A. M., Fernandez-Galiana, A., Fishbach, M., Frederick, C., George, J., Greco, G., Guo, H.-K., Hardwick, T., Hartwig, D., Haughian, K., Heng, I. S., Holmes, Z. J., Hsu, Y., Janssens, K., Johns, G. R., Jones, D. I., Jung, P., Jung, K., Kalogera, V., Knee, A. M., Kuns, K., Kuo, C., Kuroyanagi, S., Leaci, P., Li, T. G. F., Lin, F-L., Lin, L. C.-C., Lousto, C. O., Manske, M., Marchesoni, F., Marion, F., Márka, S., Messenger, C., Miller, A., Miyazaki, Y., Moraru, D., Mukherjee, D., Naticchioni, L., Nayak, B., Nitoglia, E., Nocera, F., Olivetto, C., Page, M. A., Palamos, J. R., Palomba, C., Pan, K., Park, J., Pfeiffer, H. P., Pierini, L., Quetschke, V., Rezac, M., Ricci, F., Richards, D., Rozza, D., Saravanan, T. R., Sato, S., Shimoda, T., Shinkai, H., Smith, R. J. E., Suh, H. G., Sutton, P. J., Takahashi, H., Tanaka, Kazuyuki, Tanaka, Taiki, Tanioka, S., Tiwari, Shubhanshu, Tsai, D. S., Tso, R., Unnikrishnan, C. S., Ushiba, T., Vajpeyi, A., van Heijningen, J. V., Vo, T., Wrangel, J. S. A. von, Weinert, M., Xiao, L., Yelikar, A. B., Zeidler, S., Zelenova, T., Zhu, X. J.

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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy von Saad, Ahmed K., Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M., Jhangiani, Shalini N., Akdemir, Zeynep C., Gibbs, Richard A., Hunter, Jill V., Carvalho, Claudia M. B. C., Pehlivan, Davut, Posey, Jennifer E., Zaki, Maha S., Lupski, James R.

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