Detection of Klebsiella pneumoniae and Escherichia coli strains producing extended-spectrum beta-lactamases von KATSANIS, G. P, SPARGO, J, FERRARO, M. J, SUTTON, L, JACOBY, G. A

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability von Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., Stegmann, A. P. A., Stevens, S. J. C., Lelieveld, S. H., Gilissen, C., Pfundt, R., Tan, P. L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N., Brunner, H. G.

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Marine Exhaust Gas Treatment Systems for Compliance with the IMO 2020 Global Sulfur Cap and Tier III NOx Limits: A Review von Zannis, Theodoros C., Katsanis, John S., Christopoulos, Georgios P., Yfantis, Elias A., Papagiannakis, Roussos G., Pariotis, Efthimios G., Rakopoulos, Dimitrios C., Rakopoulos, Constantine D., Vallis, Athanasios G.

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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response von Gerdes, Jantje M, Liu, Yangfan, Zaghloul, Norann A, Leitch, Carmen C, Lawson, Shaneka S, Kato, Masaki, Beachy, Philip A, Beales, Philip L, DeMartino, George N, Fisher, Shannon, Badano, Jose L, Katsanis, Nicholas

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A functional variant in the CFI gene confers a high risk of age-related macular degeneration von van de Ven, Johannes P H, Nilsson, Sara C, Tan, Perciliz L, Buitendijk, Gabriëlle H S, Ristau, Tina, Mohlin, Frida C, Nabuurs, Sander B, Schoenmaker-Koller, Frederieke E, Smailhodzic, Dzenita, Campochiaro, Peter A, Zack, Donald J, Duvvari, Maheswara R, Bakker, Bjorn, Paun, Codrut C, Boon, Camiel J F, Uitterlinden, Andre G, Liakopoulos, Sandra, Klevering, B Jeroen, Fauser, Sascha, Daha, Mohamed R, Katsanis, Nicholas, Klaver, Caroline C W, Blom, Anna M, Hoyng, Carel B, den Hollander, Anneke I

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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development von Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene von Nishiguchi, Koji M., Tearle, Richard G., Liu, Yangfan P., Oh, Edwin C., Miyake, Noriko, Benaglio, Paola, Harper, Shyana, Koskiniemi-Kuendig, Hanna, Venturini, Giulia, Sharon, Dror, Koenekoop, Robert K., Nakamura, Makoto, Kondo, Mineo, Ueno, Shinji, Yasuma, Tetsuhiro R., Beckmann, Jacques S., Ikegawa, Shiro, Matsumoto, Naomichi, Terasaki, Hiroko, Berson, Eliot L., Katsanis, Nicholas, Rivolta, Carlo

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Therapeutic Hypothermia after Out-of-Hospital Cardiac Arrest in Children von Moler, Frank W, Silverstein, Faye S, Holubkov, Richard, Slomine, Beth S, Christensen, James R, Nadkarni, Vinay M, Meert, Kathleen L, Clark, Amy E, Browning, Brittan, Pemberton, Victoria L, Page, Kent, Shankaran, Seetha, Hutchison, Jamie S, Newth, Christopher J.L, Bennett, Kimberly S, Berger, John T, Topjian, Alexis, Pineda, Jose A, Koch, Joshua D, Schleien, Charles L, Dalton, Heidi J, Ofori-Amanfo, George, Goodman, Denise M, Fink, Ericka L, McQuillen, Patrick, Zimmerman, Jerry J, Thomas, Neal J, van der Jagt, Elise W, Porter, Melissa B, Meyer, Michael T, Harrison, Rick, Pham, Nga, Schwarz, Adam J, Nowak, Jeffrey E, Alten, Jeffrey, Wheeler, Derek S, Bhalala, Utpal S, Lidsky, Karen, Lloyd, Eric, Mathur, Mudit, Shah, Samir, Wu, Theodore, Theodorou, Andreas A, Sanders, Ronald C, Dean, J. Michael

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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome von Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.

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Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration: A Mendelian Randomization Study von Kuan, Valerie, Warwick, Alasdair, Hingorani, Aroon, Tufail, Adnan, Cipriani, Valentina, Burgess, Stephen, Sofat, Reecha

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Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene von Li, Jin Billy, Gerdes, Jantje M, Haycraft, Courtney J, Fan, Yanli, Teslovich, Tanya M, May-Simera, Helen, Li, Haitao, Blacque, Oliver E, Li, Linya, Leitch, Carmen C, Lewis, Richard Allan, Green, Jane S, Parfrey, Patrick S, Leroux, Michel R, Davidson, William S, Beales, Philip L, Guay-Woodford, Lisa M, Yoder, Bradley K, Stormo, Gary D, Katsanis, Nicholas, Dutcher, Susan K

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations von O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.

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Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration von Grassmann, Felix, Heid, Iris M, Weber, Bernhard H F

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations von Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.

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CAR-T Prescriber Preferences in Adolescents and Young Adults with B-ALL von Godby, Richard Curtis, Ferdjallah, Asmaa, Alkhateeb, Hassan B., Aquino, Victor, Hudspeth, Michelle P., Rangarajan, Hemalatha G., Kitko, Carrie Lynn, Anderson, Eric Jon, Kelly, Susan, Modi, Arunkumar J., Katsanis, Emmanuel, Ramachandran, Shanti, Lin, Yi, Kohorst, Mira A

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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus von JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco

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Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-related Macular Degeneration Subtypes von Sobrin, Lucia, MD, MPH, Ripke, Stephan, MD, Yu, Yi, PhD, Fagerness, Jesen, JD, Bhangale, Tushar R., PhD, Tan, Perciliz L., BSc, Souied, Eric H., MD, PhD, Buitendijk, Gabriëlle H.S., MD, MSc, Merriam, Joanna E., MD, PhD, Richardson, Andrea J., BSc, Raychaudhuri, Soumya, MD, PhD, Reynolds, Robyn, MPH, Chin, Kimberly A., BA, Lee, Aaron Y., MD, Leveziel, Nicolas, MD, PhD, Zack, Donald J., MD, PhD, Campochiaro, Peter, MD, Smith, R. Theodore, MD, PhD, Barile, Gaetano R., MD, Hogg, Ruth E., PhD, Chakravarthy, Usha, MD, PhD, Behrens, Timothy W., MD, Uitterlinden, André G., PhD, van Duijn, Cornelia M., PhD, Vingerling, Johannes R., MD, PhD, Brantley, Milam A., MD, PhD, Baird, Paul N., PhD, Klaver, Caroline C.W., MD, PhD, Allikmets, Rando, PhD, Katsanis, Nicholas, PhD, Graham, Robert R., PhD, Ioannidis, John P.A., MD, DSc, Daly, Mark J., PhD, Seddon, Johanna M., MD, ScM

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Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration von YI YU, BHANGALE, Tushar R, REYNOLDS, Robyn, RAYCHAUDHURI, Soumya, CHIN, Kimberly A, SOBRIN, Lucia, EVANGELOU, Evangelos, LEE, PhilH, LEE, Aaron Y, LEVEZIEL, Nicolas, ZACK, Donald J, CAMPOCHIARO, Betsy, FAGERNESS, Jesen, CAMPOCHIARO, Peter, THEODORE SMITH, R, BARILE, Gaetano R, GUYMER, Robyn H, HOGG, Ruth, CHAKRAVARTHY, Usha, ROBMAN, Luba D, GUSTAFSSON, Omar, SIGURDSSON, Haraldur, ORTMANN, Ward, RIPKE, Stephan, BEHRENS, Timothy W, STEFANSSON, Kari, UITTERLINDEN, André G, VAN DUIJN, Cornelia M, VINGERLING, Johannes R, KLAVER, Caroline C. W, ALLIKMETS, Rando, BRANTLEY, Milam A, BAIRD, Paul N, KATSANIS, Nicholas, THORLEIFSSON, Gudmar, THORSTEINSDOTTIR, Unnur, IOANNIDIS, John P. A, DALY, Mark J, GRAHAM, Robert R, SEDDON, Johanna M, TAN, Perciliz L, SOUIED, Eric H, RICHARDSON, Andrea J, MERRIAM, Joanna E, BUITENDIJK, Gabriëlle H. S

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy von Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Buckley, Reuben M., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivas P., Munday, John S., Murphy, William J., Pedersen, Niels C., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H., Yu, Yoshihiko, Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand

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Ectopic Overexpression of Sonic Hedgehog (Shh) Induces Stromal Expansion and Metaplasia in the Adult Murine Pancreas von Fendrich, Volker, Oh, Edwin, Bang, Seungmin, Karikari, Collins, Ottenhof, Niki, Bisht, Savita, Lauth, Matthias, Brossart, Peter, Katsanis, Nicholas, Maitra, Anirban, Feldmann, Georg

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