15,854 results on '"Beggs, A"'
Search Results
152. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
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Acosta, Maria T., Adam, Margaret, Adams, David R., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Gutierrez, Irma, Hadley, Don, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mahoney, Rachel, Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Nakano-Okuno, Mariko, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Raper, Anna, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz-Hubshman, Monika, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zastrow, Diane B., Zhang, Zhe, Zhao, Chunli, Zuchner, Stephan, Reuter, Chloe, Kohler, Jennefer, Zastrow, Diane, Alkelai, Anna, Baugh, Evan, and Cope, Heidi
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- 2023
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153. Development and Validation of a Risk Assessment Model for Pulmonary Nodules Using Plasma Proteins and Clinical Factors
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Vachani, Anil, Lam, Stephen, Massion, Pierre P., Brown, James K., Beggs, Michael, Fish, Amanda L., Carbonell, Luis, Wang, Shan X., and Mazzone, Peter J.
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- 2023
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154. Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project
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Pereira, Stacey, Gutierrez, Amanda M., Robinson, Jill Oliver, Christensen, Kurt D., Genetti, Casie A., Blout Zawatsky, Carrie L., Hsu, Rebecca L., Zettler, Bethany, Uveges, Melissa Kurtz, Parad, Richard B., Beggs, Alan H., Holm, Ingrid A., Green, Robert C., and McGuire, Amy L.
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- 2023
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155. Prevalence of physical frailty, including risk factors, up to 1 year after hospitalisation for COVID-19 in the UK: a multicentre, longitudinal cohort study
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Abel, K., Adamali, H., Adeloye, D., Adeyemi, O., Adrego, R., Aguilar Jimenez, L.A., Ahmad, S., Ahmad Haider, N., Ahmed, R., Ahwireng, N., Ainsworth, M., Al-Sheklly, B., Alamoudi, A., Ali, M., Aljaroof, M., All, A.M., Allan, L., Allen, R.J., Allerton, L., Allsop, L., Almeida, P., Altmann, D., Alvarez Corral, M., Amoils, S., Anderson, D., Antoniades, C., Arbane, G., Arias, A., Armour, C., Armstrong, L., Armstrong, N., Arnold, D., Arnold, H., Ashish, A., Ashworth, A., Ashworth, M., Aslani, S., Assefa-Kebede, H., Atkin, C., Atkin, P., Aul, R., Aung, H., Austin, L., Avram, C., Ayoub, A., Babores, M., Baggott, R., Bagshaw, J., Baguley, D., Bailey, L., Baillie, J.K., Bain, S., Bakali, M., Bakau, M., Baldry, E., Baldwin, D., Baldwin, M., Ballard, C., Banerjee, A., Bang, B., Barker, R.E., Barman, L., Barratt, S., Barrett, F., Basire, D., Basu, N., Bates, M., Bates, A., Batterham, R., Baxendale, H., Bayes, H., Beadsworth, M., Beckett, P., Beggs, M., Begum, M., Beirne, P., Bell, D., Bell, R., Bennett, K., Beranova, E., Bermperi, A., Berridge, A., Berry, C., Betts, S., Bevan, E., Bhui, K., Bingham, M., Birchall, K., Bishop, L., Bisnauthsing, K., Blaikely, J., Bloss, A., Bolger, A., Bolton, C.E., Bonnington, J., Botkai, A., Bourne, C., Bourne, M., Bramham, K., Brear, L., Breen, G., Breeze, J., Briggs, A., Bright, E., Brightling, C.E., Brill, S., Brindle, K., Broad, L., Broadley, A., Brookes, C., Broome, M., Brown, A., Brown, J., Brown, J.S., Brown, M., Brown, V., Brugha, T., Brunskill, N., Buch, M., Buckley, P., Bularga, A., Bullmore, E., Burden, L., Burdett, T., Burn, D., Burns, G., Burns, A., Busby, J., Butcher, R., Butt, A., Byrne, S., Cairns, P., Calder, P.C., Calvelo, E., Carborn, H., Card, B., Carr, C., Carr, L., Carson, G., Carter, P., Casey, A., Cassar, M., Cavanagh, J., Chablani, M., Chalder, T., Chalmers, J.D., Chambers, R.C., Chan, F., Channon, K.M., Chapman, K., Charalambou, A., Chaudhuri, N., Checkley, A., Chen, J., Cheng, Y., Chetham, L., Childs, C., Chilvers, E.R., Chinoy, H., Chiribiri, A., Chong-James, K., Choudhury, G., Choudhury, N., Chowienczyk, P., Christie, C., Chrystal, M., Clark, D., Clark, C., Clarke, J., Clohisey, S., Coakley, G., Coburn, Z., Coetzee, S., Cole, J., Coleman, C., Conneh, F., Connell, D., Connolly, B., Connor, L., Cook, A., Cooper, B., Cooper, J., Cooper, S., Copeland, D., Cosier, T., Coulding, M., Coupland, C., Cox, E., Craig, T., Crisp, P., Cristiano, D., Crooks, M.G., Cross, A., Cruz, I., Cullinan, P., Cuthbertson, D., Daines, L., Dalton, M., Daly, P., Daniels, A., Dark, P., Dasgin, J., David, A., David, C., Davies, E., Davies, F., Davies, G., Davies, G.A., Davies, K., Davies, M.J., Dawson, J., Daynes, E., De Soyza, A., Deakin, B., Deans, A., Deas, C., Deery, J., Defres, S., Dell, A., Dempsey, K., Denneny, E., Dennis, J., Dewar, A., Dharmagunawardena, R., Diar-Bakerly, N., Dickens, C., Dipper, A., Diver, S., Diwanji, S.N., Dixon, M., Djukanovic, R., Dobson, H., Dobson, S.L., Docherty, A.B., Donaldson, A., Dong, T., Dormand, N., Dougherty, A., Dowling, R., Drain, S., Draxlbauer, K., Drury, K., Drury, H.J.C., Dulawan, P., Dunleavy, A., Dunn, S., Dupont, C., Earley, J., Easom, N., Echevarria, C., Edwards, S., Edwardson, C., El-Taweel, H., Elliott, A., Elliott, K., Ellis, Y., Elmer, A., Elneima, O., Evans, D., Evans, H., Evans, J., Evans, R., Evans, R.A., Evans, R.I., Evans, T., Evenden, C., Evison, L., Fabbri, L., Fairbairn, S., Fairman, A., Fallon, K., Faluyi, D., Favager, C., Fayzan, T., Featherstone, J., Felton, T., Finch, J., Finney, S., Finnigan, J., Finnigan, L., Fisher, H., Fletcher, S., Flockton, R., Flynn, M., Foot, H., Foote, D., Ford, A., Forton, D., Fraile, E., Francis, C., Francis, R., Francis, S., Frankel, A., Fraser, E., Free, R., French, N., Fu, X., Fuld, J., Furniss, J., Garner, L., Gautam, N., Geddes, J.R., George, J., George, P., Gibbons, M., Gill, M., Gilmour, L., Gleeson, F., Glossop, J., Glover, S., Goodman, N., Goodwin, C., Gooptu, B., Gordon, H., Gorsuch, T., Greatorex, M., Greenhaff, P.L., Greenhalf, W., Greenhalgh, A., Greening, N.J., Greenwood, J., Gregory, H., Gregory, R., Grieve, D., Griffin, D., Griffiths, L., Guerdette, A.-M., Guillen Guio, B., Gummadi, M., Gupta, A., Gurram, S., Guthrie, E., Guy, Z., Henson, H.H., Hadley, K., Haggar, A., Hainey, K., Hairsine, B., Haldar, P., Hall, I., Hall, L., Halling-Brown, M., Hamil, R., Hancock, A., Hancock, K., Hanley, N.A., Haq, S., Hardwick, H.E., Hardy, E., Hardy, T., Hargadon, B., Harrington, K., Harris, E., Harris, V.C., Harrison, E.M., Harrison, P., Hart, N., Harvey, A., Harvey, M., Harvie, M., Haslam, L., Havinden-Williams, M., Hawkes, J., Hawkings, N., Haworth, J., Hayday, A., Haynes, M., Hazeldine, J., Hazelton, T., Heaney, L.G., Heeley, C., Heeney, J.L., Heightman, M., Heller, S., Henderson, M., Hesselden, L., Hewitt, M., Highett, V., Hillman, T., Hiwot, T., Ho, L.P., Hoare, A., Hoare, M., Hockridge, J., Hogarth, P., Holbourn, A., Holden, S., Holdsworth, L., Holgate, D., Holland, M., Holloway, L., Holmes, K., Holmes, M., Holroyd-Hind, B., Holt, L., Hormis, A., Horsley, A., Hosseini, A., Hotopf, M., Houchen-Wolloff, L., Howard, K., Howard, L.S., Howell, A., Hufton, E., Hughes, A.D., Hughes, J., Hughes, R., Humphries, A., Huneke, N., Hurditch, E., Hurst, J., Husain, M., Hussell, T., Hutchinson, J., Ibrahim, W., Ilyas, F., Ingham, J., Ingram, L., Ionita, D., Isaacs, K., Ismail, K., Jackson, T., Jacob, J., James, W.Y., Jang, W., Jarman, C., Jarrold, I., Jarvis, H., Jastrub, R., Jayaraman, B., Jenkins, R.G., Jezzard, P., Jiwa, K., Johnson, C., Johnson, S., Johnston, D., Jolley, C.J., Jones, D., Jones, G., Jones, H., Jones, I., Jones, L., Jones, M.G., Jones, S., Jose, S., Kabir, T., Kaltsakas, G., Kamwa, V., Kanellakis, N., Kaprowska, S., Kausar, Z., Keenan, N., Kelly, S., Kemp, G., Kerr, S., Kerslake, H., Key, A.L., Khan, F., Khunti, K., Kilroy, S., King, B., King, C., Kingham, L., Kirk, J., Kitterick, P., Klenerman, P., Knibbs, L., Knight, S., Knighton, A., Kon, O., Kon, S., Kon, S.S., Koprowska, S., Korszun, A., Koychev, I., Kurasz, C., Kurupati, P., Laing, C., Lamlum, H., Landers, G., Langenberg, C., Lasserson, D., Lavelle-Langham, L., Lawrie, A., Lawson, C., Layton, A., Lea, A., Leavy, O.C., Lee, D., Lee, J.-H., Lee, E., Leitch, K., Lenagh, R., Lewis, D., Lewis, J., Lewis, K.E., Lewis, V., Lewis-Burke, N., Li, X., Light, T., Lightstone, L., Lilaonitkul, W., Lim, L., Linford, S., Lingford-Hughes, A., Lipman, M., Liyanage, K., Lloyd, A., Logan, S., Lomas, D., Lone, N.I., Loosley, R., Lord, J.M., Lota, H., Lovegrove, W., Lucey, A., Lukaschuk, E., Lye, A., Lynch, C., MacDonald, S., MacGowan, G., Macharia, I., Mackie, J., Macliver, L., Madathil, S., Madzamba, G., Magee, N., Magtoto, M.M., Mairs, N., Majeed, N., Major, E., Malein, F., Malim, M., Mallison, G., D-C Man, W., Mandal, S., Mangion, K., Manisty, C., Manley, R., March, K., Marciniak, S., Marino, P., Mariveles, M., Marks, M., Marouzet, E., Marsh, S., Marshall, B., Marshall, M., Martin, J., Martineau, A., Martinez, L.M., Maskell, N., Matila, D., Matimba-Mupaya, W., Matthews, L., Mbuyisa, A., McAdoo, S., McAllister-Williams, H., McArdle, A., McArdle, P., McAulay, D., McCann, G.P., McCormick, J., McCormick, W., McCourt, P., McGarvey, L., McGee, C., Mcgee, K., McGinness, J., McGlynn, K., McGovern, A., McGuinness, H., McInnes, I.B., McIntosh, J., McIvor, E., McIvor, K., McLeavey, L., McMahon, A., McMahon, M.J., McMorrow, L., Mcnally, T., McNarry, M., McNeill, J., McQueen, A., McShane, H., Mears, C., Megson, C., Megson, S., Mehta, P., Meiring, J., Melling, L., Mencias, M., Menzies, D., Merida Morillas, M., Michael, A., Miller, C., Milligan, L., Mills, C., Mills, G., Mills, N.L., Milner, L., Misra, S., Mitchell, J., Mohamed, A., Mohamed, N., Mohammed, S., Molyneaux, P.L., Monteiro, W., Moriera, S., Morley, A., Morrison, L., Morriss, R., Morrow, A., Moss, A.J., Moss, P., Motohashi, K., Msimanga, N., Mukaetova-Ladinska, E., Munawar, U., Murira, J., Nanda, U., Nassa, H., Nasseri, M., Neal, A., Needham, R., Neill, P., Neubauer, S., Newby, D.E., Newell, H., Newman, T., Newman, J., Newton-Cox, A., Nicholson, T., Nicoll, D., Nikolaidis, A., Nolan, C.M., Noonan, M.J., Norman, C., Novotny, P., Nunag, J., Nwafor, L., Nwanguma, U., Nyaboko, J., O'Brien, C., O'Donnell, K., O'Regan, D., O’Brien, L., Odell, N., Ogg, G., Olaosebikan, O., Oliver, C., Omar, Z., Openshaw, P.J.M., Orriss-Dib, L., Osborne, L., Osbourne, R., Ostermann, M., Overton, C., Owen, J., Oxton, J., Pack, J., Pacpaco, E., Paddick, S., Painter, S., Pakzad, A., Palmer, S., Papineni, P., Paques, K., Paradowski, K., Pareek, M., Parekh, D., Parfrey, H., Pariante, C., Parker, S., Parkes, M., Parmar, J., Patale, S., Patel, B., Patel, M., Patel, S., Pattenadk, D., Pavlides, M., Payne, S., Pearce, L., Pearl, J.E., Peckham, D., Pendlebury, J., Peng, Y., Pennington, C., Peralta, I., Perkins, E., Peterkin, Z., Peto, T., Petousi, N., Petrie, J., Pfeffer, P., Phipps, J., Pimm, J., Piper Hanley, K., Pius, R., Plant, H., Plein, S., Plekhanova, T., Plowright, M., Poinasamy, K., Polgar, O., Poll, L., Porter, J.C., Porter, J., Portukhay, S., Powell, N., Prabhu, A., Pratt, J., Price, A., Price, C., Price, D., Price, L., Prickett, A., Propescu, J., Prosper, S., Pugmire, S., Quaid, S., Quigley, J., Quint, J., Qureshi, H., Qureshi, I.N., Radhakrishnan, K., Rahman, N.M., Ralser, M., Raman, B., Ramos, A., Ramos, H., Rangeley, J., Rangelov, B., Ratcliffe, L., Ravencroft, P., Reddington, A., Reddy, R., Reddy, A., Redfearn, H., Redwood, D., Reed, A., Rees, M., Rees, T., Regan, K., Reynolds, W., Ribeiro, C., Richards, A., Richardson, E., Richardson, M., Rivera-Ortega, P., Roberts, K., Robertson, E., Robinson, E., Robinson, L., Roche, L., Roddis, C., Rodger, J., Ross, A., Ross, G., Rossdale, J., Rostron, A., Rowe, A., Rowland, A., Rowland, J., Rowland, M.J., Rowland-Jones, S.L., Roy, K., Roy, M., Rudan, I., Russell, R., Russell, E., Saalmink, G., Sabit, R., Sage, E.K., Samakomva, T., Samani, N., Sampson, C., Samuel, K., Samuel, R., Sanderson, A., Sapey, E., Saralaya, D., Sargant, J., Sarginson, C., Sass, T., Sattar, N., Saunders, K., Saunders, R.M., Saunders, P., Saunders, L.C., Savill, H., Saxon, W., Sayer, A., Schronce, J., Schwaeble, W., Scott, J.T., Scott, K., Selby, N., Semple, M.G., Sereno, M., Sewell, T.A., Shah, A., Shah, K., Shah, P., Shankar-Hari, M., Sharma, M., Sharpe, C., Sharpe, M., Shashaa, S., Shaw, A., Shaw, K., Shaw, V., Sheikh, A., Shelton, S., Shenton, L., Shevket, K., Shikotra, A., Short, J., Siddique, S., Siddiqui, S., Sidebottom, J., Sigfrid, L., Simons, G., Simpson, J., Simpson, N., Singapuri, A., Singh, C., Singh, S., Singh, S.J., Sissons, D., Skeemer, J., Slack, K., Smith, A., Smith, D., Smith, S., Smith, J., Smith, L., Soares, M., Solano, T.S., Solly, R., Solstice, A.R., Soulsby, T., Southern, D., Sowter, D., Spears, M., Spencer, L.G., Speranza, F., Stadon, L., Stanel, S., Steele, N., Steiner, M., Stensel, D., Stephens, G., Stephenson, L., Stern, M., Stewart, I., Stimpson, R., Stockdale, S., Stockley, J., Stoker, W., Stone, R., Storrar, W., Storrie, A., Storton, K., Stringer, E., Strong-Sheldrake, S., Stroud, N., Subbe, C., Sudlow, C.L., Suleiman, Z., Summers, C., Summersgill, C., Sutherland, D., Sykes, D.L., Sykes, R., Talbot, N., Tan, A.L., Tarusan, L., Tavoukjian, V., Taylor, A., Taylor, C., Taylor, J., Te, A., Tedd, H., Tee, C.J., Teixeira, J., Tench, H., Terry, S., Thackray-Nocera, S., Thaivalappil, F., Thamu, B., Thickett, D., Thomas, C., Thomas, D.C., Thomas, S., Thomas, A.K., Thomas-Woods, T., Thompson, T., Thompson, A.A.R., Thornton, T., Thorpe, M., Thwaites, R.S., Tilley, J., Tinker, N., Tiongson, G.F., Tobin, M., Tomlinson, J., Tong, C., Toshner, M., Touyz, R., Tripp, K.A., Tunnicliffe, E., Turnbull, A., Turner, E., Turner, S., Turner, V., Turner, K., Turney, S., Turtle, L., Turton, H., Ugoji, J., Ugwuoke, R., Upthegrove, R., Valabhji, J., Ventura, M., Vere, J., Vickers, C., Vinson, B., Wade, E., Wade, P., Wain, L.V., Wainwright, T., Wajero, L.O., Walder, S., Walker, S., Wall, E., Wallis, T., Walmsley, S., Walsh, J.A., Walsh, S., Warburton, L., Ward, T.J.C., Warwick, K., Wassall, H., Waterson, S., Watson, E., Watson, L., Watson, J., Weir McCall, J., Welch, C., Welch, H., Welsh, B., Wessely, S., West, S., Weston, H., Wheeler, H., White, S., Whitehead, V., Whitney, J., Whittaker, S., Whittam, B., Whitworth, V., Wight, A., Wild, J., Wilkins, M., Wilkinson, D., Williams, B., Williams, N., Williams, J., Williams-Howard, S.A., Willicombe, M., Willis, G., Willoughby, J., Wilson, A., Wilson, D., Wilson, I., Window, N., Witham, M., Wolf-Roberts, R., Wood, C., Woodhead, F., Woods, J., Wootton, D.G., Wormleighton, J., Worsley, J., Wraith, D., Wrey Brown, C., Wright, C., Wright, L., Wright, S., Wyles, J., Wynter, I., Xu, M., Yasmin, N., Yasmin, S., Yates, T., Yip, K.P., Young, B., Young, S., Young, A., Yousuf, A.J., Zawia, A., Zeidan, L., Zhao, B., Zheng, B., Zongo, O., McAuley, Hamish J.C., Evans, Rachael A., Bolton, Charlotte E., Brightling, Christopher E., Chalmers, James D., Docherty, Annemarie B., Elneima, Omer, Greenhaff, Paul L., Gupta, Ayushman, Harris, Victoria C., Harrison, Ewen M., Ho, Ling-Pei, Horsley, Alex, Houchen-Wolloff, Linzy, Jolley, Caroline J., Leavy, Olivia C., Lone, Nazir I., Man, William D-C, Marks, Michael, Parekh, Dhruv, Poinasamy, Krisnah, Quint, Jennifer K., Raman, Betty, Richardson, Matthew, Saunders, Ruth M., Sereno, Marco, Shikotra, Aarti, Singapuri, Amisha, Singh, Sally J., Steiner, Michael, Tan, Ai Lyn, Wain, Louise V., Welch, Carly, Whitney, Julie, Witham, Miles D., Lord, Janet, and Greening, Neil J.
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- 2023
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156. COVID-19 booster vaccination uptake and infection breakthrough amongst health care workers in Wales: A national prospective cohort study
- Author
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Bedston, Stuart, Lowthian, Emily, Jarvis, Christopher I., Akbari, Ashley, Beggs, Jillian, Bradley, Declan, de Lusignan, Simon, Griffiths, Rowena, Herbert, Laura, Hobbs, Richard, Kerr, Steven, Lyons, Jane, Midgley, William, Owen, Rhiannon K., Quint, Jennifer K., Tsang, Ruby, Torabi, Fatemeh, Sheikh, Aziz, and Lyons, Ronan A.
- Published
- 2023
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157. Fraud and abuse in the paycheck protection program? Evidence from investment advisory firms
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Beggs, William and Harvison, Thuong
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- 2023
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158. X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition
- Author
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Volpatti, Jonathan R., Ghahramani-Seno, Mehdi M., Mansat, Mélanie, Sabha, Nesrin, Sarikaya, Ege, Goodman, Sarah J., Chater-Diehl, Eric, Celik, Alper, Pannia, Emanuela, Froment, Carine, Combes-Soia, Lucie, Maani, Nika, Yuki, Kyoko E., Chicanne, Gaëtan, Uusküla-Reimand, Liis, Monis, Simon, Alvi, Sana Akhtar, Genetti, Casie A., Payrastre, Bernard, Beggs, Alan H., Bonnemann, Carsten G., Muntoni, Francesco, Wilson, Michael D., Weksberg, Rosanna, Viaud, Julien, and Dowling, James J.
- Published
- 2022
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159. Recreation Facility Management
- Author
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Brent A. Beggs, Richard F. Mull, Mick Renneisen, Michael A. Mulvaney and Brent A. Beggs, Richard F. Mull, Mick Renneisen, Michael A. Mulvaney
- Published
- 2023
160. Measuring Energy Requirements of Traumatic Brain Injury Patients in Pediatric Intensive Care With Indirect Calorimetry: A Comparison With Empiric Methods*
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Beggs, Megan R., Ashkin, Allison, Larsen, Bodil M. K., and Garros, Daniel
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- 2023
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161. Real world impact of 13vPCV in preventing invasive pneumococcal pneumonia in Australian children: A national study
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Homaira, Nusrat, Strachan, Roxanne, Quinn, Helen, Beggs, Sean, Bhuiyan, Mejbah, Bowen, Asha, Fawcett, Laura K, Gilbert, Gwendolyn L, Lambert, Stephen B, Macartney, Kristine, Marshall, Helen S, Martin MD, Andrew C, McCallum, Gabrielle, McCullagh, Angela, McDonald, Tim, Selvadurai, Hiran, McIntyre, Peter, Oftadeh, Shahin, Ranganathan PhD, Sarath, Saunders, Thomas, Suresh, Sadasivam, Wainwright, Claire, Wilson, Angela, Wong, Melanie, Jaffe, Adam, and Snelling, Tom
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- 2023
- Full Text
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162. SARS-CoV-2-specific nasal IgA wanes 9 months after hospitalisation with COVID-19 and is not induced by subsequent vaccination
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Baillie, J. Kenneth, Openshaw, Peter J.M., Semple, Malcolm G., Alex, Beatrice, Andrikopoulos, Petros, Bach, Benjamin, Barclay, Wendy S., Bogaert, Debby, Chand, Meera, Chechi, Kanta, Cooke, Graham S., da Silva Filipe, Ana, de Silva, Thushan, Docherty, Annemarie B., dos Santos Correia, Gonçalo, Dumas, Marc-Emmanuel, Dunning, Jake, Fletcher, Tom, Green, Christopher A., Greenhalf, William, Griffin, Julian, Gupta, Rishi K., Harrison, Ewen M., Ho, Antonia Y.W., Holden, Karl, Horby, Peter W., Ijaz, Samreen, Khoo, Say, Klenerman, Paul, Law, Andrew, Lewis, Matthew, Liggi, Sonia, Lim, Wei Shen, Maslen, Lynn, Mentzer, Alexander J., Merson, Laura, Meynert, Alison M, Moore, Shona C., Noursadeghi, Mahdad, Olanipekun, Michael, Osagie, Anthonia, Palmarini, Massimo, Palmieri, Carlo, Paxton, William A., Pollakis, Georgios, Price, Nicholas, Rambaut, Andrew, Robertson, David L, Russell, Clark D., Sancho-Shimizu, Vanessa, Sands, Caroline, Scott, Janet T., Sigfrid, Louise, Solomon, Tom, Sriskandan, Shiranee, Stuart, David, Summers, Charlotte, Swann, Olivia V., Takats, Zoltan, Takis, Panteleimon, Tedder, Richard S., Thompson, A.A. Roger, Thomson, Emma C., Thwaites, Ryan S., Turtle, Lance C.W., Zambon, Maria, Drake, Thomas M., Fairfield, Cameron J., Knight, Stephen R., Mclean, Kenneth A., Murphy, Derek, Norman, Lisa, Pius, Riinu, Shaw, Catherine A., Connor, Marie, Dalton, Jo, Gamble, Carrol, Girvan, Michelle, Halpin, Sophie, Harrison, Janet, Jackson, Clare, Lee, James, Marsh, Laura, Plotkin, Daniel, Roberts, Stephanie, Saviciute, Egle, Clohisey, Sara, Hendry, Ross, Knight, Susan, Lahnsteiner, Eva, Leeming, Gary, Norris, Lucy, Scott-Brown, James, Tait, Sarah, Wham, Murray, Clark, Richard, Coutts, Audrey, Donelly, Lorna, Fawkes, Angie, Gilchrist, Tammy, Hafezi, Katarzyna, MacGillivray, Louise, Maclean, Alan, McCafferty, Sarah, Morrice, Kirstie, Murphy, Lee, Wrobel, Nicola, Carson, Gail, Adeniji, Kayode, Agranoff, Daniel, Agwuh, Ken, Ail, Dhiraj, Aldera, Erin L., Alegria, Ana, Allen, Sam, Angus, Brian, Ashish, Abdul, Atkinson, Dougal, Bari, Shahedal, Barlow, Gavin, Barnass, Stella, Barrett, Nicholas, Bassford, 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Vidya, Kegg, Stephen, Kelsey, Michael, Kendall, Jason, Kerrison, Caroline, Kerslake, Ian, Koch, Oliver, Koduri, Gouri, Koshy, George, Laha, Shondipon, Laird, Steven, Larkin, Susan, Leiner, Tamas, Lillie, Patrick, Limb, James, Linnett, Vanessa, Little, Jeff, Lyttle, Mark, MacMahon, Michael, MacNaughton, Emily, Mankregod, Ravish, Masson, Huw, Matovu, Elijah, McCullough, Katherine, McEwen, Ruth, Meda, Manjula, Mills, Gary, Minton, Jane, Mohandas, Kavya, Mok, Quen, Moon, James, Moore, Elinoor, Morgan, Patrick, Morris, Craig, Mortimore, Katherine, Moses, Samuel, Mpenge, Mbiye, Mulla, Rohinton, Murphy, Michael, Nagarajan, Thapas, Nagel, Megan, Nelson, Mark, Norris, Lillian, O'Shea, Matthew K., Ostermann, Marlies, Otahal, Igor, Pais, Mark, Panchatsharam, Selva, Papakonstantinou, Danai, Papineni, Padmasayee, Paraiso, Hassan, Patel, Brij, Pattison, Natalie, Pepperell, Justin, Peters, Mark, Phull, Mandeep, Pintus, Stefania, Planche, Tim, Post, Frank, Price, David, Prout, Rachel, Rae, Nikolas, 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Victoria, Ahmed, Katie A., Armstrong, Jane A., Ashworth, Milton, Asiimwe, Innocent G., Bakshi, Siddharth, Barlow, Samantha L, Booth, Laura, Brennan, Benjamin, Bullock, Katie, Carlucci, Nicola, Cass, Emily, Catterall, Benjamin W.A., Clark, Jordan J., Clarke, Emily A., Cole, Sarah, Cooper, Louise, Cox, Helen, Davis, Christopher, Dincarslan, Oslem, Doce Carracedo, Alejandra, Dunn, Chris, Dyer, Philip, Elliott, Angela, Evans, Anthony, Finch, Lorna, Fisher, Lewis W.S., Flaherty, Lisa, Foster, Terry, Garcia-Dorival, Isabel, Gunning, Philip, Hartley, Catherine, Holmes, Anthony, Jensen, Rebecca L., Jones, Christopher B., Jones, Trevor R., Khandaker, Shadia, King, Katharine, Kiy, Robyn T., Koukorava, Chrysa, Lake, Annette, Lant, Suzannah, Latawiec, Diane, Lavelle-Langham, Lara, Lefteri, Daniella, Lett, Lauren, Livoti, Lucia A, Mancini, Maria, Massey, Hannah, Maziere, Nicole, McDonald, Sarah, McEvoy, Laurence, McLauchlan, John, Metelmann, Soeren, Miah, Nahida S., Middleton, Joanna, Mitchell, Joyce, Murphy, Ellen G, Penrice-Randal, Rebekah, Pilgrim, Jack, Prince, Tessa, Reynolds, Will, Ridley, P. Matthew, Sales, Debby, Shaw, Victoria E., Shears, Rebecca K., Small, Benjamin, Subramaniam, Krishanthi S., Szemiel, Agnieska, Taggart, Aislynn, Tanianis-Hughes, Jolanta, Thomas, Jordan, Trochu, Erwan, van Tonder, Libby, Wilcock, Eve, Zhang, J. 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N., Steiner, M., Stensel, D., Stephens, G., Stephenson, L., Stern, M., Stewart, I., Stimpson, R., Stockdale, S., Stockley, J., Stoker, W., Stone, R., Storrar, W., Storrie, A., Storton, K., Stringer, E., Strong-Sheldrake, S., Stroud, N., Subbe, C., Sudlow, C.L., Suleiman, Z., Summers, C., Summersgill, C., Sutherland, D., Sykes, D.L., Sykes, R., Talbot, N., Tan, A.L., Tarusan, L., Tavoukjian, V., Taylor, A., Taylor, C., Taylor, J., Te, A., Tedd, H., Tee, C.J., Teixeira, J., Tench, H., Terry, S., Thackray-Nocera, S., Thaivalappil, F., Thamu, B., Thickett, D., Thomas, C., Thomas, D.C., Thomas, S., Thomas, A.K., Thomas-Woods, T., Thompson, T., Thompson, A.A.R., Thornton, T., Thorpe, M., Thwaites, R.S., Tilley, J., Tinker, N., Tiongson, G.F., Tobin, M., Tomlinson, J., Tong, C., Toshner, M., Touyz, R., Tripp, K.A., Tunnicliffe, E., Turnbull, A., Turner, E., Turner, S., Turner, V., Turner, K., Turney, S., Turtle, L., Turton, H., Ugoji, J., Ugwuoke, R., Upthegrove, R., Valabhji, J., Ventura, M., Vere, J., Vickers, C., Vinson, B., Wade, E., Wade, P., Wain, L.V., Wainwright, T., Wajero, L.O., Walder, S., Walker, S., Wall, E., Wallis, T., Walmsley, S., Walsh, J.A., Walsh, S., Warburton, L., Ward, T.J.C., Warwick, K., Wassall, H., Waterson, S., Watson, E., Watson, L., Watson, J., Weir McCall, J., Welch, C., Welch, H., Welsh, B., Wessely, S., West, S., Weston, H., Wheeler, H., White, S., Whitehead, V., Whitney, J., Whittaker, S., Whittam, B., Whitworth, V., Wight, A., Wild, J., Wilkins, M., Wilkinson, D., Williams, B., Williams, N., Williams, J., Williams-Howard, S.A., Willicombe, M., Willis, G., Willoughby, J., Wilson, A., Wilson, D., Wilson, I., Window, N., Witham, M., Wolf-Roberts, R., Wood, C., Woodhead, F., Woods, J., Wootton, D.G., Wormleighton, J., Worsley, J., Wraith, D., Wrey Brown, C., Wright, C., Wright, L., Wright, S., Wyles, J., Wynter, I., Xu, M., Yasmin, N., Yasmin, S., Yates, T., Yip, K.P., Young, B., Young, S., Young, A., Yousuf, A.J., Zawia, A., Zeidan, L., Zhao, B., Zheng, B., Zongo, O., Liew, Felicity, Talwar, Shubha, Cross, Andy, Willett, Brian J., Scott, Sam, Logan, Nicola, Siggins, Matthew K., Swieboda, Dawid, Sidhu, Jasmin K., Efstathiou, Claudia, Davis, Chris, Mohamed, Noura, Nunag, Jose, King, Clara, Rowland-Jones, Sarah L., Chalmers, James D., Ho, Ling-Pei, Horsley, Alexander, Raman, Betty, Poinasamy, Krisnah, Marks, Michael, Kon, Onn Min, Howard, Luke, Wootton, Daniel G., Dunachie, Susanna, Quint, Jennifer K., Evans, Rachael A., Wain, Louise V., Fontanella, Sara, de Silva, Thushan I., Ho, Antonia, Harrison, Ewen, Brightling, Christopher, and Turtle, Lance
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- 2023
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163. Wildfire bureaucracy: The affective dimensions of state engagement with Indigenous peoples in southeast Australia
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Beggs, Lachlan and Dalley, Cameo
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- 2023
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164. Donor human milk processing and its impact on infant digestion: A systematic scoping review of in vitro and in vivo studies
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Pitino, Michael A., Beggs, Megan R., O’Connor, Deborah L., Doyen, Alain, Pouliot, Yves, Sergius-Ronot, Mélanie, and Unger, Sharon
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- 2023
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165. The 2017 Split wildfire in Croatia: evolution and the role of meteorological conditions
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I. Čavlina Tomašević, K. K. W. Cheung, V. Vučetić, P. Fox-Hughes, K. Horvath, M. Telišman Prtenjak, P. J. Beggs, B. Malečić, and V. Milić
- Subjects
Environmental technology. Sanitary engineering ,TD1-1066 ,Geography. Anthropology. Recreation ,Environmental sciences ,GE1-350 ,Geology ,QE1-996.5 - Abstract
The Split wildfire in July 2017, which was one of the most severe wildfires in the history of this Croatian World Heritage Site, is the focus in this study. The Split fire is a good example of a wildfire–urban interface, with unexpected fire behavior including rapid downslope spread to the coastal populated area. This study clarifies the meteorological conditions behind the fire event, those that have limited the effectiveness of firefighting operations, and the rapid escalation and expansion of the fire zones within 30 h. The Split fire propagation was first reconstructed using radio logs, interviews with firefighters and pilots involved in the intervention, eyewitness statements, digital photographs from fire detection cameras, media, and the monthly firefighting journal. Four phases of fire development have been identified. Then, weather observations and numerical simulations using an enhanced-resolution operational model are utilized to analyze the dynamics in each phase of the fire runs. The synoptic background of the event includes large surface pressure gradient between the Azores anticyclone accompanied by a cold front and a cyclone over the southeastern Balkan Peninsula. At the upper level, there was a deep shortwave trough extending from the Baltic Sea to the Adriatic Sea, which developed into a cut-off low. Such synoptic conditions have resulted in the maximum fire weather index in 2017. Combined with topography, they also locally provoke the formation of the strong northeasterly bura wind along the Adriatic coast, which has been accompanied by a low-level jet (LLJ). The bura (downslope wind), with mid- to low-level gravity-wave breaking and turbulence mixing (as in the hydraulic jump theory), also facilitated the subsidence of dry air from the upper troposphere and rapid drying at the surface. This study demonstrates that numerical guidance that indicates the spatial and temporal occurrence of a LLJ is highly capable of explaining the Split fire evolution from the ignition potential to its extinguishment stage. Thus, in addition to the conventional fire weather indices, such products are able to improve fire weather behavior forecasting and in general more effective decision-making in fire management.
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- 2022
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166. Risk of thrombocytopenic, haemorrhagic and thromboembolic disorders following COVID-19 vaccination and positive test: a self-controlled case series analysis in Wales
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Fatemeh Torabi, Stuart Bedston, Emily Lowthian, Ashley Akbari, Rhiannon K. Owen, Declan T. Bradley, Utkarsh Agrawal, Peter Collins, Richard Fry, Lucy J. Griffiths, Jillian Beggs, Gareth Davies, Joe Hollinghurst, Jane Lyons, Hoda Abbasizanjani, Simon Cottrell, Malorie Perry, Richard Roberts, Amaya Azcoaga-Lorenzo, Adeniyi Francis Fagbamigbe, Ting Shi, Ruby S. M. Tsang, Chris Robertson, F. D. Richard Hobbs, Simon de Lusignan, Colin McCowan, Michael Gravenor, Colin R. Simpson, Aziz Sheikh, and Ronan A. Lyons
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Medicine ,Science - Abstract
Abstract There is a need for better understanding of the risk of thrombocytopenic, haemorrhagic, thromboembolic disorders following first, second and booster vaccination doses and testing positive for SARS-CoV-2. Self-controlled cases series analysis of 2.1 million linked patient records in Wales between 7th December 2020 and 31st December 2021. Outcomes were the first diagnosis of thrombocytopenic, haemorrhagic and thromboembolic events in primary or secondary care datasets, exposure was defined as 0–28 days post-vaccination or a positive reverse transcription polymerase chain reaction test for SARS-CoV-2. 36,136 individuals experienced either a thrombocytopenic, haemorrhagic or thromboembolic event during the study period. Relative to baseline, our observations show greater risk of outcomes in the periods post-first dose of BNT162b2 for haemorrhagic (IRR 1.47, 95%CI: 1.04–2.08) and idiopathic thrombocytopenic purpura (IRR 2.80, 95%CI: 1.21–6.49) events; post-second dose of ChAdOx1 for arterial thrombosis (IRR 1.14, 95%CI: 1.01–1.29); post-booster greater risk of venous thromboembolic (VTE) (IRR-Moderna 3.62, 95%CI: 0.99–13.17) (IRR-BNT162b2 1.39, 95%CI: 1.04–1.87) and arterial thrombosis (IRR-Moderna 3.14, 95%CI: 1.14–8.64) (IRR-BNT162b2 1.34, 95%CI: 1.15–1.58). Similarly, post SARS-CoV-2 infection the risk was increased for haemorrhagic (IRR 1.49, 95%CI: 1.15–1.92), VTE (IRR 5.63, 95%CI: 4.91, 6.4), arterial thrombosis (IRR 2.46, 95%CI: 2.22–2.71). We found that there was a measurable risk of thrombocytopenic, haemorrhagic, thromboembolic events after COVID-19 vaccination and infection.
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- 2022
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167. Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer
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Andrijes, Regina, Hejmadi, Rahul K., Pugh, Matthew, Rajesh, Sundaresan, Novitskaya, Vera, Ibrahim, Maha, Overduin, Michael, Tselepis, Chris, Middleton, Gary W., Győrffy, Balázs, Beggs, Andrew D., and Berditchevski, Fedor
- Published
- 2021
168. Ultrarapid detection of SARS-CoV-2 RNA using a reverse transcription–free exponential amplification reaction, RTF-EXPAR
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Carter, Jake G., Iturbe, Lorea Orueta, Duprey, Jean-Louis H. A., Carter, Ian R., Southern, Craig D., Rana, Marium, Whalley, Celina M., Bosworth, Andrew, Beggs, Andrew D., Hicks, Matthew R., Tucker, James H. R., and Dafforn, Timothy R.
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- 2021
169. Commuting the Math Sentence: Accelerating Developmental Mathematics Using the Co-Requisite Model
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Atkins, Charlene and Beggs, C. T.
- Abstract
This study compares the results of a developmental co-requisite program with those of a traditional pre-requisite program in an attempt to determine whether the two models provide equivalent levels of effectiveness and efficiency. The research focused on gateway course completion scores and final exam scores for undergraduate students enrolled in a college-level quantitative reasoning course at a public four-year university in the mid-west. The results of this study suggest student success may be improved through the implementation of co-requisite pathways. A learner-centered approach to teaching, one offering just-in-time support, is recommended in this study. The co-requisite model coupled with evidence-based instructional methods demonstrates a promising practice in developmental education worthy of further inquiry.
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- 2017
170. A scientific note on the transmission of chalkbrood via field collected pollen
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Shin-Clayton, Sacchi, Beggs, Jacqueline R., Pattemore, David E., and Mortensen, Ashley N.
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- 2023
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171. The expanding clinical and genetic spectrum of DYNC1H1-related disorders
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Möller, Birk, primary, Becker, Lena-Luise, additional, Saffari, Afshin, additional, Afenjar, Alexandra, additional, Coci, Emanuele G, additional, Williamson, Rachel, additional, Ward-Melver, Catherine, additional, Gibaud, Marc, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Libá, Zuzana, additional, Vlčková, Markéta, additional, William, Nancy, additional, Klee, Eric W, additional, Gavrilova, Ralitza H, additional, Lévy, Jonathan, additional, Capri, Yline, additional, Scavina, Mena, additional, Körner, Robert Walter, additional, Valuvullah, Zaheer, additional, Weiß, Claudia, additional, Möller, Greta Marit, additional, Thiel, Moritz, additional, Sinnema, Margje, additional, Kamsteeg, Erik-Jan, additional, Donkervoort, Sandra, additional, Duboc, Veronique, additional, Zaafrane-Khachnaoui, Khaoula, additional, Elkhateeb, Nour, additional, Selim, Laila, additional, Margot, Henri, additional, Marin, Victor, additional, Beneteau, Claire, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Keren, Boris, additional, Küsters, Benno, additional, Beggs, Alan H, additional, Genetti, Casie A, additional, Nicolai, Joost, additional, Dötsch, Jörg, additional, Koy, Anne, additional, Bönnemann, Carsten G, additional, von der Hagen, Maja, additional, von Kleist-Retzow, Jürgen-Christoph, additional, Voermans, Nicol, additional, Jungbluth, Heinz, additional, and Dafsari, Hormos Salimi, additional
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- 2024
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172. Genome Sequencing for Diagnosing Rare Diseases
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Wojcik, Monica H., primary, Lemire, Gabrielle, additional, Berger, Eva, additional, Zaki, Maha S., additional, Wissmann, Mariel, additional, Win, Wathone, additional, White, Susan M., additional, Weisburd, Ben, additional, Wieczorek, Dagmar, additional, Waddell, Leigh B., additional, Verboon, Jeffrey M., additional, VanNoy, Grace E., additional, Töpf, Ana, additional, Tan, Tiong Yang, additional, Syrbe, Steffen, additional, Strehlow, Vincent, additional, Straub, Volker, additional, Stenton, Sarah L., additional, Snow, Hana, additional, Singer-Berk, Moriel, additional, Silver, Josh, additional, Shril, Shirlee, additional, Seaby, Eleanor G., additional, Schneider, Ronen, additional, Sankaran, Vijay G., additional, Sanchis-Juan, Alba, additional, Russell, Kathryn A., additional, Reinson, Karit, additional, Ravenscroft, Gianina, additional, Radtke, Maximilian, additional, Popp, Denny, additional, Polster, Tilman, additional, Platzer, Konrad, additional, Pierce, Eric A., additional, Place, Emily M., additional, Pajusalu, Sander, additional, Pais, Lynn, additional, Õunap, Katrin, additional, Osei-Owusu, Ikeoluwa, additional, Opperman, Henry, additional, Okur, Volkan, additional, Oja, Kaisa Teele, additional, O’Leary, Melanie, additional, O’Heir, Emily, additional, Morel, Chantal F., additional, Merkenschlager, Andreas, additional, Marchant, Rhett G., additional, Mangilog, Brian E., additional, Madden, Jill A., additional, MacArthur, Daniel, additional, Lovgren, Alysia, additional, Lerner-Ellis, Jordan P., additional, Lin, Jasmine, additional, Laing, Nigel, additional, Hildebrandt, Friedhelm, additional, Hentschel, Julia, additional, Groopman, Emily, additional, Goodrich, Julia, additional, Gleeson, Joseph G., additional, Ghaoui, Roula, additional, Genetti, Casie A., additional, Gburek-Augustat, Janina, additional, Gazda, Hanna T., additional, Ganesh, Vijay S., additional, Ganapathi, Mythily, additional, Gallacher, Lyndon, additional, Fu, Jack M., additional, Evangelista, Emily, additional, England, Eleina, additional, Donkervoort, Sandra, additional, DiTroia, Stephanie, additional, Cooper, Sandra T., additional, Chung, Wendy K., additional, Christodoulou, John, additional, Chao, Katherine R., additional, Cato, Liam D., additional, Bujakowska, Kinga M., additional, Bryen, Samantha J., additional, Brand, Harrison, additional, Bönnemann, Carsten G., additional, Beggs, Alan H., additional, Baxter, Samantha M., additional, Bartolomaeus, Tobias, additional, Agrawal, Pankaj B., additional, Talkowski, Michael, additional, Austin-Tse, Christina, additional, Abou Jamra, Rami, additional, Rehm, Heidi L., additional, and O’Donnell-Luria, Anne, additional
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- 2024
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173. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
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Pucel, Jenna, primary, Briere, Lauren C., additional, Reuter, Chloe, additional, Gochyyev, Perman, additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Hadley, Don, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stergachis, Andrew, additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Hubshman, Monika Weisz, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Xiao, Changrui, additional, Yamamoto, Shinya, additional, Yang, John, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional
- Published
- 2024
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- View/download PDF
174. Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex
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Li, Qifei, primary, Lin, Jasmine, additional, Luo, Shiyu, additional, Schmitz‐Abe, Klaus, additional, Agrawal, Rohan, additional, Meng, Melissa, additional, Moghadaszadeh, Behzad, additional, Beggs, Alan H., additional, Liu, Xiaoli, additional, Perrella, Mark A., additional, and Agrawal, Pankaj B., additional
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- 2024
- Full Text
- View/download PDF
175. Health at the centre of climate change negotiations: critical achievements from the COP28 Health Programme
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Aditya Vyas, Arthur Wyns, Paul J Beggs, and Ying Zhang
- Subjects
global health ,climate change ,COP28 ,UNFCCC ,Environmental technology. Sanitary engineering ,TD1-1066 ,Environmental sciences ,GE1-350 ,Science ,Physics ,QC1-999 - Published
- 2024
- Full Text
- View/download PDF
176. Analogue-digital systems and the modular decomposition of physical behaviour
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Beggs, E. J. and Tucker, J. V.
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Computer Science - Systems and Control ,Computer Science - Logic in Computer Science ,Computer Science - Software Engineering - Abstract
We take a fresh look at analogue-digital systems focussing on their physical behaviour. We model a general analogue-digital system as a physical process controlled by an algorithm by viewing the physical process as physical oracle to the algorithm, generalising the notion of Turing. We develop a theoretical framework for the specification and analysis of such systems that combines five semantical notions: actual physical behaviour, measured behaviour, predicted behaviour, computed behaviour and exceptional behaviour. Next, we consider the more general and applicable situation of complex processes that exhibit several distinct modes of physical behaviour. Thus, for their design, a set of mathematical models may be needed, each model having its own domain of application and representing a particular mode of behaviour or operation of physical reality with its own physical oracle. The models may be of disparate kinds and, furthermore, not all physical modes may even have a reliable model. We address the questions: How do we specify algorithms and software that monitor or govern a complex physical situation with many physical modes? How do we specify a portfolio of modes, and the computational problem of transitioning from using one mode to another mode as physical behaviour changes? We propose a general definition of an analogue-digital system with modes, and show how any diverse set of modes, with or without models, can be bound together, and how the transitions between modes can be determined, by constructing a data type and mode selection functions. We illustrate the ideas of physical modes and our theory by reflecting on simple examples, including driverless racing cars.
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- 2018
177. Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries
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Glasbey, James C, Abbott, Tom EF, Ademuyiwa, Adesoji, Adisa, Adewale, AlAmeer, Ehab, Alshryda, Sattar, Arnaud, Alexis P, Bankhead-Kendall, Brittany, Abou Chaar, M K, Chaudhry, Daoud, Costas-Chavarri, Ainhoa, Cunha, Miguel F, Davies, Justine I, Desai, Anant, Elhadi, Muhammed, Fiore, Marco, Fitzgerald, James Edward, Fourtounas, Maria, Fowler, Alex James, Futaba, Kay, Gallo, Gaetano, Ghosh, Dhruva, Gujjuri, Rohan R, Hamilton, Rebecca, Haque, Parvez, Harrison, Ewen M, Hutchinson, Peter, Hyman, Gabriella, Isik, Arda, Jayarajah, Umesh, Kaafarani, Haytham MA, Kadir, Bryar, Lawani, Ismail, Lederhuber, Hans, Li, Elizabeth, Löffler, Markus W, Lorena, Maria Aguilera, Mann, Harvinder, Martin, Janet, Mazingi, Dennis, McClain, Craig D, McLean, Kenneth A, Meara, John G, Ramos-De La Medina, Antonio, Mengesha, Mengistu, Minaya, Ana, Modolo, Maria Marta, Moore, Rachel, Morton, Dion, Nepogodiev, Dmitri, Ntirenganya, Faustin, Pata, Francesco, Pearse, Rupert, Picciochi, Maria, Pinkney, Thomas, Pockney, Peter, van Ramshorst, Gabrielle H, Richards, Toby, Roslani, April Camilla, Satoi, Sohei, Sayyed, Raza, Shaw, Richard, Simões, Joana FF, Smart, Neil, Sullivan, Richard, Sund, Malin, Sundar, Sudha, Tabiri, Stephen, Taylor, Elliott H, Venn, Mary L, Wickramasinghe, Dakshitha, Wright, Naomi, Yip, Sebastian Bernardo Shu, Bhangu, Aneel, Omar, Omar, Harrison, Ewen, Bhangu, Aneel A, Siaw-Acheampong, Kwabena, Benson, Ruth A, Bywater, Edward, Dawson, Brett E, Evans, Jonathan P, Heritage, Emily, Jones, Conor S, Kamarajah, Sivesh K, Khatri, Chetan, Khaw, Rachel A, Keatley, James M, Knight, Andrew, Lawday, Samuel, Mann, Harvinder S, Marson, Ella J, Mckay, Siobhan C, Mills, Emily C, Pellino, Gianluca, Tiwari, Abhinav, Trout, Isobel M, Wilkin, Richard JW, Abukhalaf, Sadi, Adamina, Michel, Ademuyiwa, Adesoji O, Agarwal, Arnav, Akkulak, Murat, Alameer, Ehab, Alderson, Derek, Alakaloko, Felix, Albertsmeier, Markus, Alser, Osaid, Alshaar, Muhammad, Augestad, Knut Magne, Ayasra, Faris, Azevedo, José, 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U, Çakici, Mehmet Çağlar, Iplikci, Ayberk, Yildirim, Asif, Ozgur, Ilker, Sen, Comert, Dincer, Muserref B, Erginöz, Ergin, Sanli, Ahmet Necati, Turna, Akif, Askar, Ahmet, Uludağ, Server Sezgin, Guldogan, Cem E, Ozmen, Mehmet M, Bozkurt, Mehmet A, özcan, Adem, Kara, Yasin, Kocataş, Ali, Guner, Ali, Sari, Ramazan, Memisoglu, Ecem, Saracoglu, Kemal T, Tosun, Yasin, Çetin, Kenan, Kalafat, Erkan, Taskiran, Cagatay, Vatansever, Dogan, Giray, Burak, Tatar, Ozan C, Köksal, Hande, Özkent, Mehmet Serkan, Ulutaş, Mehmet E, Hamarat, Mustafa B, Coskun, Bora, Abbasov, Aykhan, Altinsoy, Ezgi, Uprak, Tevfik Kivilcim, Saracoglu, Ayten, Ugurlu, M Umit, Kose, Emin, Ozgen, Utku, Sungurtekin, Ugur, Gonullu, Emre, Bayhan, Zulfu, Akin, Emrah, Mantoglu, Baris, Colak, Elif, Kucuk, Gultekin Ozan, Yuksel, Cemil, Aydin, Ferit, Dogan, Lutfi, Culcu, Serdar, Tufan, Aydin Eray, Citgez, Bulent, Akpinar, Göksever, Köksoy, Ülkü C, Ulgur, Hanife Seyda, Kalin, Murat, Ozkan, Omer Faruk, Yildirak, Muhammed Kadir, Atici, Semra Demirli, Salimoğlu, Semra, Abud, Burcin, Calik, Bulent, Kamer, Erdinc, Kebabci, Eyup, Uylas, Ufuk, Teker, Kenan, Cakmak, Guldeniz Karadeniz, Gultekin, Fatma Ayca, Xaviour, Okedi Francis, Isaac, Otolia, Gaston, Turinawe, Asiimwe, Daniel, Vahwere, Bienfait Mumbere, Sikakulya, Franck Katembo, Lule, Herman, Lugobe, Henry Mark, Lekuya, Hervé Monka, Namugenyi, Christine, Kiweewa, Ronald, Bosco, Muhangi, Yovenko, Ihor, Kopetskyi, Viacheslav, Maksymenko, Bogdan, Khan, Sabina A, Padvi, Amit Vasantrao, Serour, Mohamed A, Beigh, Shamim Ahmad, Elsayed, Hisham M, Mohamed, Awadelkarim O, Basappanavar, Vikram Somashekhar, Al-Wandi, Amna S, Khalil, Kareem S, Younis, Muhammad Umar, Al Saadi, Hayder S Abdulhadi, Heidan, Ginan K, Trehan, Ravi K, Davies, Justin, Ashcroft, James, Georgiades, Fanourios, Durrani, Amer J, Price, Stephen J, Wong, Kai Yuen, Agrawal, Amit, Seah, Matthew KT, Saad, Marwa M E, Segaren, Nicholas, Ghobrial, Marios, Balakrishnan, Anita, Forouhi, Parto, Khan, Wasim S, Wheeler, James, Schache, Andrew G, Katsikostas, Dimitrios P, Angelou, Dimitrios, Fell, Adam J, Madani, Rana, Dindyal, Shiva, Seraj, Shaikh S, Sharavanan, Premalatha, Iqbal, Muhammad R, Wong, Nicholas J, Lo, William B, Soon, Wai C, Hammouche, Dalia, Lee, Jonathan DE, Pachl, Max J, Alexander, Dinesh, Ahmad, Shoaib, Morley, Hannah L, Selwyn, David, Wareing, Jonathan, Oktseloglou, Vlasios, Bobak, Peter, Rampersad, Lisa S, Mohamed, Mazin, Kaur, Mandeep, Athanasiou, Antonios, Martin, Benjamin P, Jichi, Tarik S, Batchelor, Tim JP, Rozwadowski, Sophie, Maniarasu, Sarveen, Seyed-Safi, Parisah K, Kutuzov, Vladislav, Shah, Hemina B, Noton, Toby M, Dela Cruz, Nina Jyne Minette, Trehan, Neev, Tokidis, Evripidis, Byrne, Matthew H V, Winter, Stuart C, Pinto-Lopes, Rui, Pavithran, Aswathy, Khalifa, Ahmad O, Eardley, Nicola J, Ashour, Rami, Steinke, Jacqueline D, Esmail, Husayn D, Bence, Matthew N, Walters, Samuel T, Akinyemi, Tosin O, Lakpriya, Sathya, Moawad, Nader N, Panahi, Pedram, Lau, Joshua, McAleer, Stephen, Laoye, Adeyinka, Hussain, Abdulzahra Abdulsamad, Zafar, Muneeb, Elsheikh, Mohammed H, Shaerf, Daniel A, Soggiu, Fiammetta, Massoumi, Abaris, Gareb, Fahed, Yao, Mark W, Qamar, Mubasher A, Fang, Clarissa E H, Greenhalgh, Michael S, Hunt, Alexander, Oladeji, Emmanuel O, Benjamin, Miles W, Beak, Philip, Rae, Fraser J, Aithie, Joanna M S, Clarke, Gareth W J, Veeramootoo, Darmarajah, Ashman, Alex J, Kahka, Ehab E, Rafe, Tanvir, PATEL, PANNA K, Albirnawi, Hatim, Katory, Mark, Fisher, Ann, Amonkar, Sunil J, Rao, Pawan Kumar Dhruva, Holroyd, David J, Gkikas, Andreas, Newton, Lydia S, Kirk, Alan J B, Khalid, Ayesha, Ferguson, David, Stanier, Paul B, Shah, Vinay, El-Boghdadly, Kariem, Schizas, Alexis M P, ilyas, Minahi, George, Mark L, Gawad, Mothana, Groom, William D, Al-Azzawi, Mohammed, Ahluwalia, Julian CJ, Punjabi, Prakash P, Cheung, Fang Yi, Wilson, Michael D, Mitrofan, Claudia Gabriela, Malam, Yogeshkumar, Townson, Adam, Loubani, Mahmoud, Yau, Jih Dar, Seebah, Kevin, Akowuah, Enoch F, Pushpoth, Sreekumari R, Viswanath, Yirupaiahgari KS, ElSanhoury, Kareem, Chew, Misha, Walker, Thomas E, Elhassan, Almutasim Billah Elbagir, Belcher, Elizabeth, Goricar, Matej, majd, Hooman Soleymani, Knight, Dominic, Ismail, Lamiese, McKinnon, Chris, Ganau, Mario, Prokopenko, Max, Doshi, Neel S, Gkorila, Aikaterina, Sheikh, Nomaan A, Helm, Jessica R, Low, Mei Ken, Ogunfusika, Oluseyi Harold, Bisheet, George, Alhammali, Tariq, Arnob, Ahmed Showki, Singh, Jatinder, Allde, Emma L, Sambhwani, Sharan H, Dube, Manas, Gemmill, Elizabeth H, John, Joby, Gerogiannis, Ioannis N, Abuelgasim, Mona A A, Crate, Georgina, Holme, Thomas J, Nguyen, Anh T V, Ho, Michael W, Wade, Ryckie G, Hussain, Azar, Andrzejowski, Paul, Omakobia, Eugene, Eltayeb, Momin, Galabov, Tsanko P, Lee, Chung Yan Vernon, Nazir, Anum, Siaw, Oliver L, Ashford, Robert U, Boddy, Alex P, Ashmore, Christopher D, Shah, Snehadhar M, Gowers, Benjamin T V, Thekkinkattil, Dinesh K, Worku, Dawit, Harky, Amer, Talwar, Rishi, Sagoo, Harkiran K, Jambulingam, Periyathambi S, Smart, Christopher J, Doherty, Daniel T, Mastoridis, Sotiris, Kumar, Sidharth, Mahmoud, Rana, Solari, Francesca, Egan, Richard J, Barry, Jonathan D, Morrison, Jo, Davoudi, Kaveh, Hollyman, Marianne, Kelly, Andrew, Badenoch, Thomas F, pandanaboyana, sanjay, Critchley, Rebecca J, Sarodaya, Varun R, Sinnerton, Robert J H, Manickavasagam, Jaiganesh, Lindsay, Elizabeth F, Arora, Ankita, Hasan, Raashad, Liew, Ignatius, Ozua, Joshua, Kouritas, Vasileios, Collins, Rachael V, Lafford, George H, Moret, Charlie, Chean, Chung Shen, Horgan, Liam F, Aujayeb, Avinash, Siddique, Muhammad Harris, Navaratne, Lalin, Kotecha, Sanjeev, Bellato, Vittoria, Lewis, Sophia E, Ali, Muhammad Usman, Marson, Ben A, Craxford, Simon, Gajjar, Ketankumar, Theophilidou, Elena, Aboelmagd, Tariq, Khatkar, Harman, Awadallah, Mahmoud A, Blanco, Jose A, Chituku, Tsitsi G, Dixon, Oliver GB, sarveswaran, Janahan, Jones, Imogen S, Hammouche, Salah, Vijay, Vardhini, Ooi, Rucira, Karmarkar, Rahi, Khaleeq, Tahir, Bhatia, Mohit, Al-Khazaali, Badr L, Daadipour, Audrina, Mattar, Ahmed, Singhal, Tarun, Mahmoud, Moustafa Ibrahim, Glasbey, James, Nankivell, Paul C, Kalkat, Maninder S, Nour, Shahd, Beggs, Andrew D, Yershov, Danylo Y, Chughtai, Shafiq Ahmad, Youssef, Hesham, Norrish, Alan R, Mohammed, Mohammed M, Gwozdz, Adam M, Charalambous, Michalis P, Knight, Stephen R, McCaul, James A, Bridgman, Elsie A, El Sheikh, Mustafa, Ogunbowale, Akinsola, Wright, Evan O, Ahmed, Usama, Younus, Hafsa, Tincknell, Laura G, Weixing-Ho, Ken, Demetriou, Charis, Hussei, Mohammed, Reilly, John-Joe, Hormis, Anil P, Moug, Susan J, Anazor, Fitzgerald C, Horwell, Edward A, Neal-Smith, Gregory, McNamara, John M, Baryeh, Kwaku W, Bhatti, Khalid M, McKay, Joseph E, Cannoletta, Maria G, Perkins, Clare J, Gopalswamy, Sivakumar, Sheldon, Anna F, John, Joseph B, Mantle, Mark, Toia, Bogdan, Phillips, Andrew J, Al-Khyatt, Waleed, Lund, Jonathan N, Ammar, Ahmed Y, Yim, Guang H, Huntley, Daniel A, Daniels, Ian R, Valverde, Joao, Lumley, Edward David John, Walton, Thomas J, Raptis, Dimitri A, Dimitrokallis, Nikolaos, Nathan, Arjun, Motallebzadeh, Reza, Chowdhury, Shihab, Ahmed, Rezwan F A, Mirnezami, Reza, Szakmany, Tamas, Knight, Dominic J, Al-Azzani, Waheeb, Davies, Huw R, Ooi, Setthasorn Zhi Yang, Oo, Khaing K, Cullis, Paul S, Peng, Ed, Demetriades, Andreas K, Tambyraja, Andrew L, Poon, Michael TC, Brennan, Paul M, Oikonomou, Dimitrios, Newman, Samuel E, Le Blevec, Louise, Otify, Mohamed, Szatmary, Peter, Devkaran, Bhavesh, Sochorova, Dana, Sohrabi, Catrin, Sivaprakasam, Rajesh, Goh, Mingzheng Aaron, Atkinson, Kate V, Soares, Delvene, Prce, Daniela, Cann, Johnathon P, Grobbelaar, Amy C, Bradley, Rebecca, Strauss, Helen J, Taha, Ahmed, Minicozzi, Annamaria, Thakur, Bhaskar, Hanoun, Abdullah, Goru, Poornanand, Baumber, Rachel M, Sobti, Anshul S, Cross, George WV, Havenhand, Tom, Antoniou, George A, Chauhan, Govind Singh, Vokshi, Ismail, Mahmud, Ayesha, Albanese, Erminia, Evans, Daisy, Madhuri, Thumuluru Kavitha, Horsnell, Jonathan D, Zalmay, Pardis, Davies, Angharad J, Aljanadi, Firas, Jeganathan, Reubendra, Jones, Mark, Kakos, Christos, vidya, Raghavan, El-Ghobashy, Alaa, Habib, Ahmed M, Reid, Jeremy P, Rajgor, Harshadkumar Dhirajlal, Ahmed, Omar, Branagan, Graham, Mohamedahmed, Ali Yasen Y, Al-Sabbagh, Ali, Chetty, Govind, Kelty, Clive J, EL-Wajeh, Yasin A M, Tomlinson, James E, Rominiyi, Ola, Sinha, Saurabh, Saad, Sanad, Sahu, Banchhita, Charalampakis, Vasileios, Enemosah, Ibrahim, Williams, Simon J, Yaqoob, Hassan N, Laurent, Edward P, Moreau, Joshua L, Frostick, Rhiannon, Parwaiz, Hammad, Aboelmagd, Karim, Pournaras, Dimitri J, Hristova, Kalina H, Iyengar, Karthikeyan P, Mohamed, Muyed, Artioukh, Dmitri Y, Anwar, Sibtain, Hussein, Mostafa K A, Omogbehin, Tomisin S, Herron, Jonathan B T, Labib, Amir, Patel, Preemal, Marsden, Samuel C, Mehdian, Roshana, Santhirakumaran, Gowthanan, Smelt, Jeremy, Agarwal, Ketan, Lancerotto, Luca, Sahnan, Kapil, Shalhoub, Joseph, Donnelly, Liam J, Erridge, Simon, Chidambaram, Swathikan, Luo, Xun, Bansal, Sujesh, Ryan, Neil AJ, Smith, Alexander C D, Flatman, Michael, Wafaie, Imad, Malik, Muhammad Isfandyar Khan, Thumbadoo, Ruben P, Hussain, Shoaib F, Henein, Christin, Hamad, Yousif T, Belgaumkar, Ajay P, Bosanquet, David C, Kolias, Angelos G, Choi, David, Marcus, Hani J, Horsfall, Hugo RM Layard, Khan, Danyal Z, Sahni, Arun, Millward, Christopher P, Render, Luke, Truss, Adam, Elmoslemany, Tarek, Parmar, Chetan, Hanger, Joseph, Sheen, Jonathon, Rait, Jaideep S, Foreman, Jennifer, Marzouqa, Natalie, Fontalis, Andreas, Voulalas, Grigorios, CHEONG, Ryan Chin Taw, Dindyal, Sanjay, Arumugam, Sathyaseelan, Ward, Thomas R W, Stephens, Alastair S, Douka, Eleftheria, Abou-Foul, Ahmad K, McKay, Siobhan C, Kitchen, Mark O, Rees-Stoner, Oliver DJ, Balasubramanya, Supriya, Akhtar, Muhammad Adeel, Warwick, Andrew J, Pawar, Shweta, Dubey, Vivek, Al-Yaseen, Mustafa W, Williams, Christopher YK, Laird, Alexander, Krishna, Kandaswamy, Anyaugo, Ngozi S, Wuraola, Obafemi K, Odejinmi, Funlayo, Craven, Joanna M, West, Charlotte L, Barter, Reece A, Navaratnam, Devaraj M, Malik, Shahbaz S, Mahendran, Vimaladhithan, Zilvetti, Miguel, Lovegrove, Richard E, Board, Tim N, Zeiton, Moez, Sarwar, Safdar A, Duff, Sarah E, Hsabo, Elmuiz A, Nugur, Ashwani Kumar, Morris, Richard M, Lala, Anil K, Kwan-Feinberg, Rita O, Ross, Samuel W, Dressler, Jeremy A, Evans, Faye M, Wason, Shaun E L, Vogel, Keianna R, Wang, Joanna C, Sulciner, Megan L, Hirji, Sameer, Raoof, Mustafa, Wolff, Christopher J, kent, Ilan, Turan, Alparslan, Teixeira, Pedro G, Olson, Kristofor A, Patel, Neil D, Krishnamoorthy, Vijay, Moris, Dimitrios, Rice, Henry E, Gabr, Hesham, Satoskar, Savni R, Castater, Christine A, Jmaileh, Manal, Payne, Rachel E, Kwon, David S, Aarabi, Shahram, Escobar, Pedro F, Kronenfeld, Joshua P, Dalton, Michael K, Etchill, Eric W, Haut, Elliott R, Vervoort, Dominique, Dehal, Ahmed, McKenney, Mark, Elkbuli, Adel, Gosain, Ankush, Abdelsattar, Zaid M, Naunheim, Matthew R, Burks, Ciersten A, Zhou, Allen S, Heng, Marilyn, Abohashem, Shady, Lozano-Calderón, Santiago A, Reisenauer, Janani S, Mouawad, Nicolas J, Diehl, Thomas M, Eriksson, Evert A, Marwaha, Jayson S, Schroeppel, Thomas J, LaRocca, Christopher J, Chang, Grace H, Hassan, Romana, Nosanov, Lauren B, Rickard, Jennifer L, Avraham, Jacob B, Petrone, Patrizio, Sferra, Joseph J, Hadaya, Joseph, Mead, Brittany S, Hauptman, Jason S, Ahmad, Maleeha, Meola, Antonio, Chang, Steven D, Ko, Ara, Specht, Katherine E, Choudhry, Asad, Encalada, Ronald Zerna, Poggio, Juan L, Xing, Hang, Glass, Nina E, Hooker, Robert, Martins, Paulo N, Scott, Erin M, Bankhead, Brittany K, Giorgakis, Emmanouil, Nigh, Joe, Osborn, Tamara, Tay Lasso, Erika L, Beswick, Daniel M, Berndtson, Allison E, Kaups, Krista L, Chen, Lee-lynn, Farrell, Michael S, Boeck, Marissa A, Vaysburg, Dennis M, Kassam, Al-Faraaz, Turner, Kevin M, Dyas, Adam R, Coleman, Julia R, Folsom, Megan, Lam, Christopher M, Kumer, Sean C, Larson, Kelsey, Turner, Scott, Guidry, Christopher, Reddy, Madhuri, Berbel, German, Findley, Austin, Beahm, David, Bur, Andres, Marlor, Derek, Houndschell, Corey, Carver, Shea, Ulrich, Alissa, Bhutiani, Neal, DiChiacchio, Laura, Abdou, Hossam, Napolitano, Lena M, Ghebre, Rahel, Bass, Gary Alan, Kaplan, Lewis J, Martin, Niels D, Duffy, Caoimhe C, Abdelhamid, Sultan S, Daley, Brian J, Roland, Christina L, Dumas, Ryan P, Ban, Vin Shen, Rajesh, Aashish, Davies, Mark G, Purudappa, Prabhudev P, Walters, Camila B, Lin, Nicole, Ruzgar, Nensi M, Ullrich, Sarah J, Trostchansky, Ivan, Bonilla-Cal, Fernando, Castedo, Fabiola, Sobrero, Helena, Acuña, Gastón, Álvarez, Sofía M, Tarigo, Josefina, Carbajal, Ana C, Carbajal, Ana, Reyes, Antonio R, Al-Eryani, Fatima A, Alqousi, Nardeen N, Alattas, Zainab, Al-Saban, Rafat A, Al-Shehari, Mohammed M, ALHammadi, Nawal T, Shream, Sarah A, Al-Naggar, Hamza M, Al-Qalisi, Lina M, Nadeesh, Areej E, Al-Samawi, Hytham H, Bajjah, Hadeel M, AL-Ameri, Saba A, Albably, Jamal F, Ghannam, Rana A, Shamsan, Amatallah H, Meead, Abdullah A, Al- Zubaidi, Riham Q, Zulait, Mohammed A, Najeeb, Halah, Alsayadi, Musaed M, Al-Mashreqi, Seham K, Al-Jomai, Najla A, Alsayadi, Ramzi A, Al-Naggar, Moath M, Almarashi, Hassan A, Musaeed, Hasna M, Al-Raimi, Ibrahim M, Ghanem, Hossam N, Al-Zazay, Karim A, AL-Mahdi, Shehab A, Almontaser, Amatalaleem S, Savopoulos, Vanessa A S, Munthali, James, Kabongo, Kizito M C, Mushiwokufa, Willard, Ngulube, Allan, Ntoto, Crispin, Magama, Praise T, Dzinotyiwei, Daniel, Chivanga, Shelton K, Dube, Ngqabutho S, Sanchez, Ernesto C, Moyo, Assel T, Chengahomwe, Antony, Chinyowa, Simbarashe, Siamuchembu, Maphios, Bondera, Tafadzwa, and Mushawarima, Trust
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- 2022
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178. The Cortex and the Critical Point
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Beggs, John M., primary
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- 2022
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179. Tactile Models for the Visualization, Conceptualization, and Review of Intermolecular Forces in the College Chemistry Classroom
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Bromfield Lee, Deborah C. and Beggs, Grace A.
- Abstract
The authors describe the construction and use of tactile models for demonstrating intermolecular forces. These models are composed of inexpensive materials and can be used in college chemistry classrooms of varying levels including general and organic chemistry. The models were designed to be paired with an accompanying activity to encourage students to compare and contrast the three types of intermolecular forces (hydrogen bonding, dipole-dipole forces, and London dispersion forces) as well as determine the relationship between intermolecular forces and the physical properties of specific molecules. More importantly, the handheld models allow for visualization of molecular interactions to promote multisensory learning. In this work, the authors discuss the development, implementation, and survey results of a modeling activity for conceptualization and review of intermolecular forces in introductory, general, and organic chemistry classrooms.
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- 2021
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180. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
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Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, Network, Undiagnosed Diseases, Acosta, Maria T, Adams, David R, Agrawal, Pankaj, Alejandro, Mercedes E, Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F, Bayrak-Toydemir, Pinar, Beggs, Alan H, Bejerano, Gill, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Botto, Lorenzo, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean-Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, and Hayes, Nichole
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Biochemistry and Cell Biology ,Biomedical and Clinical Sciences ,Genetics ,Biological Sciences ,Neurosciences ,2.1 Biological and endogenous factors ,Aetiology ,Axons ,Cadherins ,Corpus Callosum ,Eye ,Frameshift Mutation ,Genitalia ,Heart Defects ,Congenital ,Heterozygote ,Humans ,Neurodevelopmental Disorders ,Undiagnosed Diseases Network ,ACOG ,CDH2 ,N-cadherin ,cardiac defects ,cell-cell adhesion ,corpus callosum ,eye defects ,genital defects ,intellectual disability ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable axon pathfinding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly), and ocular, cardiac, and genital anomalies. All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; c.1839C>G [p.Cys613Trp]; c.1880A>G [p.Asp627Gly]; c.2027A>G [p.Tyr676Cys]) result in substitution of highly conserved residues, and six of seven cluster within EC domains 4 and 5. Four of the substitutions affect the calcium-binding site in the EC4-EC5 interdomain. We show that cells expressing these variants in the EC4-EC5 domains have a defect in cell-cell adhesion; this defect includes impaired binding in trans with N-cadherin-WT expressed on apposing cells. The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs∗4]; c.2564_2567dupTGTT [p.Leu856Phefs∗5]) are predicted to lead to a truncated cytoplasmic domain. Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects).
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- 2019
181. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
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Shashi, Vandana, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T, Choi, Murim, Kontrogianni‐Konstantopoulos, Aikaterini, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean‐Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, and Holm, Ingrid A
- Subjects
Biological Sciences ,Medical Physiology ,Biomedical and Clinical Sciences ,Clinical Research ,Rare Diseases ,Aetiology ,2.1 Biological and endogenous factors ,Musculoskeletal ,Adult ,Arthrogryposis ,Carrier Proteins ,Child ,Fathers ,Female ,Humans ,Infant ,Male ,Models ,Molecular ,Mutation ,Neuromuscular Diseases ,Pedigree ,Phenotype ,Protein Conformation ,Whole Genome Sequencing ,arthrogryposis ,hypotonia ,MYBPC1 ,myopathy ,myosin binding protein-C ,tremor ,Undiagnosed Diseases Network ,Genetics ,Clinical Sciences ,Genetics & Heredity ,Clinical sciences - Abstract
Encoding the slow skeletal muscle isoform of myosin binding protein-C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent families with skeletal muscle weakness, myogenic tremors, and hypotonia with gradual clinical improvement. The patients carried one of two de novo heterozygous variants in MYBPC1, with the p.Leu263Arg variant seen in three individuals and the p.Leu259Pro variant in one individual. Both variants are absent from controls, well conserved across vertebrate species, predicted to be damaging, and located in the M-motif. Protein modeling studies suggested that the p.Leu263Arg variant affects the stability of the M-motif, whereas the p.Leu259Pro variant alters its structure. In vitro biochemical and kinetic studies demonstrated that the p.Leu263Arg variant results in decreased binding of the M-motif to myosin, which likely impairs the formation of actomyosin cross-bridges during muscle contraction. Collectively, our data substantiate that damaging variants in MYBPC1 are associated with a new form of an early-onset myopathy with tremor, which is a defining and consistent characteristic in all affected individuals, with no contractures. Recognition of this expanded myopathic phenotype can enable identification of individuals with MYBPC1 variants without arthrogryposis.
- Published
- 2019
182. IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
- Author
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Newman, John H, Shaver, Aaron, Sheehan, Jonathan H, Mallal, Simon, Stone, John H, Pillai, Shiv, Bastarache, Lisa, Riebau, Derek, Allard‐Chamard, Hugues, Stone, William M, Perugino, Cory, Pilkinton, Mark, Smith, Scott A, McDonnell, Wyatt J, Capra, John A, Meiler, Jens, Cogan, Joy, Xing, Kelly, Mahajan, Vinay S, Mattoo, Hamid, Hamid, Rizwan, Phillips, John A, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell‐Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean‐Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hanchard, Neil A, Handley, Lori H, Herzog, Matthew R, High, Francis, Holm, Ingrid A, Hom, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong‐hui, and Johnston, Jean M
- Subjects
Biological Sciences ,Genetics ,Rare Diseases ,Clinical Research ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,CD4-Positive T-Lymphocytes ,Genetic Variation ,Humans ,Immunoglobulin G ,Immunoglobulin G4-Related Disease ,Male ,Middle Aged ,T-Lymphocytes ,Cytotoxic ,cytotoxic lymphocytes ,heritable ,IgG4-RD ,Undiagnosed Disease Network ,Medicinal and Biomolecular Chemistry ,Clinical Sciences ,Medicinal and biomolecular chemistry - Abstract
BackgroundFamily screening of a 48-year-old male with recently diagnosed IgG4-related disease (IgG4-RD) revealed unanticipated elevations in plasma IgG4 in his two healthy teenaged sons.MethodsWe performed gene sequencing, immune cell studies, HLA typing, and analyses of circulating cytotoxic CD4+ T lymphocytes and plasmablasts to seek clues to pathogenesis. DNA from a separate cohort of 99 patients with known IgG4-RD was also sequenced for the presence of genetic variants in a specific gene, FGFBP2.ResultsThe three share a previously unreported heterozygous single base deletion in fibroblast growth factor binding protein type 2 (FGFBP2), which causes a frameshift in the coding sequence. The FGFBP2 protein is secreted by cytotoxic T-lymphocytes and binds fibroblast growth factor. The variant sequence in the FGFBP2 protein is predicted to form a disordered random coil rather than a helical-turn-helix structure, unable to adopt a stable conformation. The proband and the two sons had 5-10-fold higher numbers of circulating cytotoxic CD4 + T cells and plasmablasts compared to matched controls. The three members also share a homozygous missense common variant in FGFBP2 found in heterozygous form in ~40% of the population. This common variant was found in 73% of an independent, well characterized IgG4-RD cohort, showing enrichment in idiopathic IgG4-RD.ConclusionsThe presence of a shared deleterious variant and homozygous common variant in FGFBP2 in the proband and sons strongly implicates this cytotoxic T cell product in the pathophysiology of IgG4-RD. The high prevalence of a common FGFBP2 variant in sporadic IgG4-RD supports the likelihood of participation in disease.
- Published
- 2019
183. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.
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Taylor, Deanne, Aronow, Bruce, Tan, Kai, Bernt, Kathrin, Salomonis, Nathan, Greene, Casey, Frolova, Alina, Henrickson, Sarah, Wells, Andrew, Pei, Liming, Jaiswal, Jyoti, Whitsett, Jeffrey, Hamilton, Kathryn, MacParland, Sonya, Kelsen, Judith, Heuckeroth, Robert, Potter, S, Vella, Laura, Terry, Natalie, Ghanem, Louis, Kennedy, Benjamin, Helbig, Ingo, Sullivan, Kathleen, Castelo-Soccio, Leslie, Kreigstein, Arnold, Herse, Florian, Nawijn, Martijn, Koppelman, Gerard, Haendel, Melissa, Harris, Nomi, Rokita, Jo, Zhang, Yuanchao, Regev, Aviv, Rozenblatt-Rosen, Orit, Rood, Jennifer, Tickle, Timothy, Vento-Tormo, Roser, Alimohamed, Saif, Lek, Monkol, Mar, Jessica, Loomes, Kathleen, Barrett, David, Uapinyoying, Prech, Beggs, Alan, Agrawal, Pankaj, Chen, Yi-Wen, Muir, Amanda, Garmire, Lana, Snapper, Scott, Nazarian, Javad, Seeholzer, Steven, Fazelinia, Hossein, Singh, Larry, Faryabi, Robert, Raman, Pichai, Dawany, Noor, Xie, Hongbo, Devkota, Batsal, Diskin, Sharon, Anderson, Stewart, Rappaport, Eric, Peranteau, William, Wikenheiser-Brokamp, Kathryn, Teichmann, Sarah, Wallace, Douglas, Peng, Tao, Ding, Yang-Yang, Kim, Man, Xing, Yi, Kong, Sek, Bönnemann, Carsten, Mandl, Kenneth, and White, Peter
- Subjects
Embryonic Development ,Gene Expression Profiling ,Gene Expression Regulation ,Developmental ,Gene Regulatory Networks ,Humans ,Pediatrics ,Single-Cell Analysis ,Tissue Distribution - Abstract
Single-cell gene expression analyses of mammalian tissues have uncovered profound stage-specific molecular regulatory phenomena that have changed the understanding of unique cell types and signaling pathways critical for lineage determination, morphogenesis, and growth. We discuss here the case for a Pediatric Cell Atlas as part of the Human Cell Atlas consortium to provide single-cell profiles and spatial characterization of gene expression across human tissues and organs. Such data will complement adult and developmentally focused HCA projects to provide a rich cytogenomic framework for understanding not only pediatric health and disease but also environmental and genetic impacts across the human lifespan.
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- 2019
184. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
- Author
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Burrage, Lindsay C, Reynolds, John J, Baratang, Nissan Vida, Phillips, Jennifer B, Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R, Christiansen, Audrey E, Lanza, Denise G, Seavitt, John R, Jain, Mahim, Li, Xiaohui, Parry, David A, Raman, Vandana, Chitayat, David, Chinn, Ivan K, Bertuch, Alison A, Karaviti, Lefkothea, Schlesinger, Alan E, Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N, Eng, Christine M, Gibbs, Richard A, Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A, Postlethwait, John, Westerfield, Monte, Dickinson, Mary E, Beaudet, Arthur L, Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D, Orange, Jordan S, Genomics, University of Washington Center for Mendelian, Network, Undiagnosed Diseases, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Enns, Gregory M, Eskin, Ascia, and Esteves, Cecilia
- Subjects
Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Rare Diseases ,Clinical Research ,Congenital Structural Anomalies ,Pediatric ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Adult ,Alleles ,Animals ,Cells ,Cultured ,Child ,Child ,Preschool ,Chromosomal Instability ,DNA Damage ,Female ,Fibroblasts ,Genetic Association Studies ,Genetic Variation ,Humans ,Mice ,Mice ,Knockout ,Musculoskeletal Abnormalities ,NF-kappa B ,Osteochondrodysplasias ,Exome Sequencing ,Young Adult ,Zebrafish ,University of Washington Center for Mendelian Genomics ,Undiagnosed Diseases Network ,DNA repair ,DNA replication ,SPONASTRIME dysplasia ,TONSL ,exome sequencing ,skeletal dysplasia ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. Although an autosomal-recessive inheritance pattern has been hypothesized, pathogenic variants in a specific gene have not been discovered in individuals with SPONASTRIME dysplasia. Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. The finding of early embryonic lethality in a Tonsl-/- murine model and the discovery of reduced length, spinal abnormalities, reduced numbers of neutrophils, and early lethality in a tonsl-/- zebrafish model both support the hypomorphic nature of the identified TONSL variants. Moreover, functional studies revealed increased amounts of spontaneous replication fork stalling and chromosomal aberrations, as well as fewer camptothecin (CPT)-induced RAD51 foci in subject-derived cell lines. Importantly, these cellular defects were rescued upon re-expression of wild-type (WT) TONSL; this rescue is consistent with the hypothesis that hypomorphic TONSL variants are pathogenic. Overall, our studies in humans, mice, zebrafish, and subject-derived cell lines confirm that pathogenic variants in TONSL impair DNA replication and homologous recombination-dependent repair processes, and they lead to a spectrum of skeletal dysplasia phenotypes with numerous extra-skeletal manifestations.
- Published
- 2019
185. Koebner phenomenon: pemphigus vulgaris following Mohs micrographic surgery
- Author
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Hattier, Georgette, Beggs, Sarah, Sahu, Joya, Trufant, Joshua, and Jones, Elizabeth
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Koebnerization ,pemphigus vulgaris ,Mohs micrographic surgery - Abstract
Koebnerization of pemphigus vulgaris (PV) is an infrequently reported reaction. We present a 65-year-old man with Koebnerized pemphigus vulgaris after Mohs microscopic surgery for a basal cell carcinoma. We present this case to heighten awareness of the phenomenon in the dermatological community.
- Published
- 2019
186. Positive queer media is important for representation
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Hodges-Beggs, Parker
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Gays ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar If you're an avid follower of queer media, you'll undoubtedly know the experience of watching a new show and having to predict whether its [...]
- Published
- 2024
187. Generative AI is negatively affecting the way we engage with art
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Hodges-Beggs, Parker
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The Pokémon Co. ,Computer software industry ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar As AI-generated imagery continues to encroach on the art world, numerous ethical dilemmas arise. The most common concern is its impact on human jobs [...]
- Published
- 2024
188. Climate change is in the hands of corporations
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Hodges-Beggs, Parker
- Subjects
Extreme weather -- Environmental aspects ,Climatic changes -- Environmental aspects ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar Despite years of climate education, the general public has a habit of disregarding climate change. Some even rebuke the notion that it's happening at [...]
- Published
- 2024
189. We need to reject the idea of scary mental disorders
- Author
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Hodges-Beggs, Parker
- Subjects
Bipolar disorder ,Mental health ,Mentally ill ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar When it comes to life as a college student, mental health is often misunderstood and disregarded. This is especially the case for disorders such [...]
- Published
- 2024
190. Disability Pride Month should be celebrated more
- Author
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Hodges-Beggs, Parker
- Subjects
Disability Pride Month -- Rites, ceremonies and celebrations ,Disability -- Rites, ceremonies and celebrations -- Laws, regulations and rules ,Parades -- Rites, ceremonies and celebrations -- Laws, regulations and rules ,Disability rights -- Rites, ceremonies and celebrations -- Laws, regulations and rules ,Government regulation ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar With such an explosive celebration like July 4th, it's no wonder that other holidays and observances of the month get overshadowed by fireworks and [...]
- Published
- 2024
191. Houston doesn't prioritize public transit enough
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Hodges-Beggs, Parker
- Subjects
Bus lines ,Light rail transit ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar Houston is one of the largest cities in the country, home to about 2.3 million. With such a large range of people, it's no [...]
- Published
- 2024
192. Pride discourse is counterproductive to its mission
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Hodges-Beggs, Parker
- Subjects
News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo / The Cougar Pride month is afoot, and with the season must come an onslaught of discourse relating to who, and what, is 'allowed' at [...]
- Published
- 2024
193. AI art in advertisements is unethical, unwanted
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Hodges-Beggs, Parker
- Subjects
Advertising ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar Over the past year or so, the use of generative AI art'has become a hot topic online, sparking debates on the ethicality of AI [...]
- Published
- 2024
194. New Overwatch hero is promising for transgender representation in gaming
- Author
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Hodges-Beggs, Parker
- Subjects
Transgender people ,News, opinion and commentary ,Sports and fitness - Abstract
Byline: Parker Hodges-Beggs Jose Gonzalez-Campelo/The Cougar Since its release, Overwatch, a hit team-based shooter game, has been extremely popular within the gaming community. Despite controversies, the game has managed to [...]
- Published
- 2024
195. Sea Surface Temperature Intercomparison in the Framework of the Copernicus Climate Change Service (C3S)
- Author
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Yang, Chunxue, Leonelli, Francesca Elisa, Marullo, Salvatore, Artale, Vincenzo, Beggs, Helen, Nardelli, Bruno Buongiorno, Chin, Toshio M., De Toma, Vincenzo, Good, Simon, Huang, Boyin, Merchant, Christopher J., Sakurai, Toshiyuki, Santoleri, Rosalia, Vazquez-Cuervo, Jorge, Zhang, Huai-Min, and Pisano, Andrea
- Published
- 2021
196. Hopf Algebras and Their Bicovariant Calculi
- Author
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Beggs, Edwin J., Majid, Shahn, Chenciner, Alain, Editor-in-Chief, Coates, John, Editor-in-Chief, Varadhan, S.R.S., Editor-in-Chief, de la Harpe, Pierre, Series Editor, Hitchin, Nigel J., Series Editor, Kupiainen, Antti, Series Editor, Lebeau, Gilles, Series Editor, Lin, Fang-Hua, Series Editor, Mori, Shigefumi, Series Editor, Ngô, Bao Chau, Series Editor, Serre, Denis, Series Editor, Sloane, Neil J. A., Series Editor, Vershik, Anatoly, Series Editor, Waldschmidt, Michel, Series Editor, Beggs, Edwin J., and Majid, Shahn
- Published
- 2020
- Full Text
- View/download PDF
197. Quantum Spacetime
- Author
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Beggs, Edwin J., Majid, Shahn, Chenciner, Alain, Editor-in-Chief, Coates, John, Editor-in-Chief, Varadhan, S.R.S., Editor-in-Chief, de la Harpe, Pierre, Series Editor, Hitchin, Nigel J., Series Editor, Kupiainen, Antti, Series Editor, Lebeau, Gilles, Series Editor, Lin, Fang-Hua, Series Editor, Mori, Shigefumi, Series Editor, Ngô, Bao Chau, Series Editor, Serre, Denis, Series Editor, Sloane, Neil J. A., Series Editor, Vershik, Anatoly, Series Editor, Waldschmidt, Michel, Series Editor, Beggs, Edwin J., and Majid, Shahn
- Published
- 2020
- Full Text
- View/download PDF
198. Vector Fields and Differential Operators
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Beggs, Edwin J., Majid, Shahn, Chenciner, Alain, Editor-in-Chief, Coates, John, Editor-in-Chief, Varadhan, S.R.S., Editor-in-Chief, de la Harpe, Pierre, Series Editor, Hitchin, Nigel J., Series Editor, Kupiainen, Antti, Series Editor, Lebeau, Gilles, Series Editor, Lin, Fang-Hua, Series Editor, Mori, Shigefumi, Series Editor, Ngô, Bao Chau, Series Editor, Serre, Denis, Series Editor, Sloane, Neil J. A., Series Editor, Vershik, Anatoly, Series Editor, Waldschmidt, Michel, Series Editor, Beggs, Edwin J., and Majid, Shahn
- Published
- 2020
- Full Text
- View/download PDF
199. Quantum Riemannian Structures
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Beggs, Edwin J., Majid, Shahn, Chenciner, Alain, Editor-in-Chief, Coates, John, Editor-in-Chief, Varadhan, S.R.S., Editor-in-Chief, de la Harpe, Pierre, Series Editor, Hitchin, Nigel J., Series Editor, Kupiainen, Antti, Series Editor, Lebeau, Gilles, Series Editor, Lin, Fang-Hua, Series Editor, Mori, Shigefumi, Series Editor, Ngô, Bao Chau, Series Editor, Serre, Denis, Series Editor, Sloane, Neil J. A., Series Editor, Vershik, Anatoly, Series Editor, Waldschmidt, Michel, Series Editor, Beggs, Edwin J., and Majid, Shahn
- Published
- 2020
- Full Text
- View/download PDF
200. Quantum Principal Bundles and Framings
- Author
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Beggs, Edwin J., Majid, Shahn, Chenciner, Alain, Editor-in-Chief, Coates, John, Editor-in-Chief, Varadhan, S.R.S., Editor-in-Chief, de la Harpe, Pierre, Series Editor, Hitchin, Nigel J., Series Editor, Kupiainen, Antti, Series Editor, Lebeau, Gilles, Series Editor, Lin, Fang-Hua, Series Editor, Mori, Shigefumi, Series Editor, Ngô, Bao Chau, Series Editor, Serre, Denis, Series Editor, Sloane, Neil J. A., Series Editor, Vershik, Anatoly, Series Editor, Waldschmidt, Michel, Series Editor, Beggs, Edwin J., and Majid, Shahn
- Published
- 2020
- Full Text
- View/download PDF
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