Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies von Suchowersky, Oksana, Au, P. Y. B., McMillan, J. M., Toppings, N. B., Donovan, L. E.

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Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1‐related ciliopathy spectrum von Gillesse, E., Wade, A., Parboosingh, J. S., Au, P. Y. B., Bernier, F. P., Lamont, R. E., Innes, A. M.

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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome von Au, P.Y.B, Huang, L, Broley, S, Gallagher, L, Creede, E, Lahey, D, Ordorica, S, Mina, K, Boycott, K.M, Baynam, G, Dyment, D.A

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy von Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril

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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations von Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena

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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies von Toppings, N B, McMillan, J M, Au, P Y B, Suchowersky, O, Donovan, L E

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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome von Au, P Y B, Huang, L, Broley, S, Gallagher, L, Creede, E, Lahey, D, Ordorica, S, Mina, K, Boycott, K M, Baynam, G, Dyment, D A

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Mass estimates from optical modelling of the new TRAPUM redback PSR J1910−5320 von Dodge, O G, Breton, R P, Clark, C J, Burgay, M, Strader, J, Au, K -Y, Barr, E D, Buchner, S, Dhillon, V S, Ferrara, E C, Freire, P C C, Griessmeier, J -M, Kennedy, M R, Kramer, M, Li, K -L, Padmanabh, P V, Phosrisom, A, Stappers, B W, Swihart, S J, Thongmeearkom, T

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Gastrointestinal safety of celecoxib versus naproxen in patients with cardiothrombotic diseases and arthritis after upper gastrointestinal bleeding (CONCERN): an industry-independe... von Chan, Francis K L, Prof, Ching, Jessica Y L, MPH, Tse, Yee Kit, MPhil, Lam, Kelvin, MBChB, Wong, Grace L H, MD, Ng, Siew C, PhD, Lee, Vivian, PharmD, Au, Kim W L, MPH, Cheong, Pui Kuan, MPH, Suen, Bing Y, BHSc, Chan, Heyson, MBChB, Kee, Ka Man, MPH, Lo, Angeline, MBChB, Wong, Vincent W S, MD, Wu, Justin C Y, MD, Kyaw, Moe H, MBBS

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Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis von Sahraeian, Sayed Mohammad Ebrahim, Mohiyuddin, Marghoob, Sebra, Robert, Tilgner, Hagen, Afshar, Pegah T., Au, Kin Fai, Bani Asadi, Narges, Gerstein, Mark B., Wong, Wing Hung, Snyder, Michael P., Schadt, Eric, Lam, Hugo Y. K.

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Clinical and Molecular Epidemiology of Human Bocavirus in Respiratory and Fecal Samples from Children in Hong Kong von Lau, Susanna K. P., Yip, Cyril C. Y., Que, Tak-lun, Lee, Rodney A., Au-Yeung, Rex K. H., Zhou, Boping, So, Lok-yee, Lau, Yu-lung, Chan, Kwok-hung, Woo, Patrick C. Y., Yuen, Kwok-yung

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Development of a marine fish model for studying in vivo molecular responses in ecotoxicology von Kong, R.Y.C., Giesy, J.P., Wu, R.S.S., Chen, E.X.H., Chiang, M.W.L., Lim, P.L., Yuen, B.B.H., Yip, B.W.P., Mok, H.O.L., Au, D.W.T.

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Direct excitation of propagating spin waves by focused ultrashort optical pulses von Au, Y, Dvornik, M, Davison, T, Ahmad, E, Keatley, P S, Vansteenkiste, A, Van Waeyenberge, B, Kruglyak, V V

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Whole–genome characterization of chemoresistant ovarian cancer von Patch, Ann-Marie, Christie, Elizabeth L., Etemadmoghadam, Dariush, Garsed, Dale W., George, Joshy, Fereday, Sian, Nones, Katia, Cowin, Prue, Alsop, Kathryn, Bailey, Peter J., Kassahn, Karin S., Newell, Felicity, Quinn, Michael C. J., Kazakoff, Stephen, Quek, Kelly, Wilhelm-Benartzi, Charlotte, Curry, Ed, Leong, Huei San, Hamilton, Anne, Mileshkin, Linda, Au-Yeung, George, Kennedy, Catherine, Hung, Jillian, Chiew, Yoke-Eng, Harnett, Paul, Friedlander, Michael, Quinn, Michael, Pyman, Jan, Cordner, Stephen, O’Brien, Patricia, Leditschke, Jodie, Young, Greg, Strachan, Kate, Waring, Paul, Azar, Walid, Mitchell, Chris, Traficante, Nadia, Hendley, Joy, Thorne, Heather, Shackleton, Mark, Miller, David K., Arnau, Gisela Mir, Tothill, Richard W., Holloway, Timothy P., Semple, Timothy, Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Idrisoglu, Senel, Bruxner, Timothy J. C., Christ, Angelika N., Poudel, Barsha, Holmes, Oliver, Anderson, Matthew, Leonard, Conrad, Lonie, Andrew, Hall, Nathan, Wood, Scott, Taylor, Darrin F., Xu, Qinying, Fink, J. Lynn, Waddell, Nick, Drapkin, Ronny, Stronach, Euan, Gabra, Hani, Brown, Robert, Jewell, Andrea, Nagaraj, Shivashankar H., Markham, Emma, Wilson, Peter J., Ellul, Jason, McNally, Orla, Doyle, Maria A., Vedururu, Ravikiran, Stewart, Collin, Lengyel, Ernst, Pearson, John V., Waddell, Nicola, deFazio, Anna, Grimmond, Sean M., Bowtell, David D. L.

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome von Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna

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Progress toward standardized diagnosis of vascular cognitive impairment: Guidelines from the Vascular Impairment of Cognition Classification Consensus Study von Black, Sandra E., Chen, Christopher, DeCarli, Charles, Erkinjuntti, Timo, Ford, Gary A., Kalaria, Rajesh N., Pantoni, Leonardo, Roman, Gustavo C., Wallin, Anders, Skoog, Ingmar, Kril, J., Cavalieri, M., Jellinger, K.A., Engelborghs, S., Lafosse, C., Bertolucci, P.H., Caramelli, P., Kirk, A., Leach, L., Robillard, A., Sahlas, D.J., Guo, Q., Tian, J., Jokinen, H., Benisty, S., Tsatali, M., Tsolaki, M., Coen, R.F., Altieri, M., Baldereschi, M., Caravaglios, G., Di Carlo, A., Galluzzi, S., Logroscino, G., Moretti, D.V., Padovani, A., Ihara, M., Mizuno, T., Kim, S.Y., Akinyemi, R., Baiyewu, O., Ogunniyi, A., Szczudlik, A., Firmino, H., Massano, J., Verdelho, A., Kruglov, L.S., Ikram, M.K., Kandiah, N., Arana, E., Barroso-Ribal, J., Cruz-Jentoft, A.J., Martinez-Lage, P., Mataro, M., Englund, E., Laukka, E.J., Qiu, C., Viitanen, M., Biessels, G.J., de Leeuw, F.-E., den Heijer, T., Exalto, L.G., Kappelle, L.J., Prins, N.D., Richard, E., van den Berg, E., Bilgic, B., Allan, L.M., Archer, J., Attems, J., Brayne, C., Bullock, R., Farrant, A., Ince, P.G., Langhorne, P., Mayer, P., Pendlebury, S.T., Perneczky, R., Smithard, D., Stephan, B.C., Todd, S., Werring, D.J., Wilcock, G., Au, R., Bozoki, A., Crane, P.K., Diniz, B.S., Etcher, L., Hurt, S.W., Lamar, M., Ott, B.R., Perry, G., Powers, W.J., Romero, J.R., Saykin, A.J., Seshadri, S., Silbert, L., Ben-Shlomo, Yoav, Passmore, Anthony P., Kehoe, Patrick G.

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Long-term effectiveness of dopamine agonists and monoamine oxidase B inhibitors compared with levodopa as initial treatment for Parkinson's disease (PD MED): a large, open-label, p... von Gray, Richard, Ives, Natalie, Rick, Caroline, Patel, Smitaa, Gray, Alastair, Jenkinson, Crispin, McIntosh, Emma, Wheatley, Keith, Williams, Adrian, Clarke, Carl E

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Adjuvant Chemotherapy With Fluorouracil Plus Folinic Acid vs Gemcitabine Following Pancreatic Cancer Resection: A Randomized Controlled Trial von Neoptolemos, John P, Stocken, Deborah D, Bassi, Claudio, Ghaneh, Paula, Cunningham, David, Goldstein, David, Padbury, Robert, Moore, Malcolm J, Gallinger, Steven, Mariette, Christophe, Wente, Moritz N, Izbicki, Jakob R, Friess, Helmut, Lerch, Markus M, Dervenis, Christos, Oláh, Attila, Butturini, Giovanni, Doi, Ryuichiro, Lind, Pehr A, Smith, David, Valle, Juan W, Palmer, Daniel H, Buckels, John A, Thompson, Joyce, McKay, Colin J, Rawcliffe, Charlotte L, Büchler, Markus W, European Study Group for Pancreatic Cancer, for the

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Production of innovative radionuclides for medical applications at the CERN-MEDICIS facility von Bernerd, C., Johnson, J.D., Aubert, E., Au, M., Barozier, V., Bernardes, A.-P., Bertreix, P., Bruchertseifer, F., Catherall, R., Chevallay, E., Chrysalidis, K., Christodoulou, P., Cocolios, T.E., Crepieux, B., Deschamps, M., Dorsival, A., Duchemin, C., Fedosseev, V., Fernier, P., Heines, M., Heinke, R., Khalid, U., Khan, M., Khan, Q., Lambert, L., Mamis, E., Marsh, B.A., Marzari, S., Menaa, N., Munos, M., Pozzi, F., Prvakova, S., Ramos, J.P., Riccardi, F., Rinchet, J.-Y., Rossel, R.E., Stora, T., Thiboud, J., Vollaire, J., Van Den Bergh, V., Wojtaczka, W.

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features von Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

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