Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

por Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David
Publicado 2022

Physics Beyond the Standard Model: Supersymmetry

por Nojiri, M.M., Plehn, T., Polesello, G., Alexander, John M., Allanach, B.C., Barr, Alan J., Benakli, K., Boudjema, F., Freitas, A., Gwenlan, C., Jager, S., Kraml, S., Kreiss, S., Lafaye, R., Lester, C.G., Kauer, N., Milstene, C., Moura, C., Muanza, Guy Steve, Raklev, A.R., Rauch, M., Schmitt, Michael Henry, Sekmen, S., Skands, Peter Z., Slavich, P., Sopczak, A., Spannowsky, M., Tovey, Daniel R., Turlay, E., Uhlemann, C.F., Weber, A.M., Zalewski, P., Zerwas, D.
Publicado 2008

Testbeam and Laboratory Characterization of CMS 3D Pixel Sensors

por Bubna, M., Bortoletto, D., Alagoz, E., Krzywda, A., Arndt, K., Shipsey, I., Bolla, G., Hinton, N., Kok, A., Hansen, T.-E., Summanwar, A., Brom, J.M., Boscardin, M., Chramowicz, J., Cumalat, J., Dalla Betta, G.F., Dinardo, M., Godshalk, A., Jones, M., Krohn, M.D., Kumar, A., Lei, C.M., Mendicino, R., Moroni, L., Perera, L., Povoli, M., Prosser, A., Rivera, R., Solano, A., Obertino, M.M., Kwan, S., Uplegger, L., Vigani, L., Wagner, S.
Publicado 2014

Performance of ALICE AD modules in the CERN PS test beam

por Broz, M., Cabanillas Noris, J.C., Calvo Villar, E., Duarte Galvan, C., Endress, E., Beltrán, L.G. Espinoza, Fernández Téllez, A., Finogeev, D., Gago, A.M., Herrera Corral, G., Kim, T., Kurepin, A., Kurepin, A.B., Kurepin, N., Monzón, I. León, Hernandez, M.I. Martínez, Mayer, C., Mieskolainen, M.M., Orava, R., Perez Moreno, L.A., Revol, J.-P., Cahuantzi, M. Rodríguez, Rojas Torres, S., Serebryakov, D., Shabanov, A., Usenko, E., Villatoro Tello, A.
Publicado 2020

Ischemic strokes revealing neurosyphilis: Study of six (6) observations at the neurology Department of the University Hospital of Conakry

por Touré, M.L., Baldé, T.H., Diallo, M.S., Othon, G. Carlos, Camara, N., Barry, S.D., Konaté, M.M., Sakadi, F., Lamah, E., Diallo, B., Diakité, M., Sakho, A., Camara, D., Condé, S., Madandi, H., Millimono, V., Barry, A.K.T., Diallo, M.T., Traoré, N., Kassa, F.D., Koné, A., Souaré, I.S., Kadji, J.M., Diallo, M.H., Tounkara, A., Rafkat, S.A., Diallo, T.M., Mara, J.F., Cissé, F.A., Cissé, A.
Publicado 2023

The Bangladesh Risk of Acute Vascular Events (BRAVE) Study: objectives and design

por Chowdhury, Rajiv, Alam, Dewan S., Fakir, Ismail Ibrahim, Adnan, Sheikh Daud, Naheed, Aliya, Tasmin, Ishrat, Monower, Md Mostafa, Hossain, Farzana, Hossain, Fatema Mahjabin, Rahman, Md Mostafizur, Afrin, Sadia, Roy, Anjan Kumar, Akter, Minara, Sume, Sima Akter, Biswas, Ajoy Kumer, Pennells, Lisa, Surendran, Praveen, Young, Robin D., Spackman, Sarah A., Hasan, Khaled, Harshfield, Eric, Sheikh, Nasir, Houghton, Richard, Saleheen, Danish, Howson, Joanna MM, Butterworth, Adam S., Raqib, Rubhana, Majumder, Abdulla Al Shafi, Danesh, John, Di Angelantonio, Emanuele
Publicado 2015

Short-term outpatient follow-up of COVID-19 patients: A multidisciplinary approach

por de Graaf, M.A., Antoni, M.L., ter Kuile, M.M., Arbous, M.S., Duinisveld, A.J.F., Feltkamp, M.C.W., Groeneveld, G.H., Hinnen, S.C.H., Janssen, V.R., Lijfering, W.M., Omara, S., Postmus, P.E., Ramai, S.R.S., Rius-Ottenheim, N., Schalij, M.J., Schiemanck, S.K., Smid, L., Stöger, J.L., Visser, L.G., de Vries, J.J.C., Wijngaarden, M.A., Geelhoed, J.J.M., Roukens, A.H.E.
Publicado 2021

A community perspective on the concept of marine holobionts: current status, challenges, and future directions

por Dittami, Simon M., Arboleda, Enrique, Auguet, Jean-Christophe, Bigalke, Arite, Briand, Enora, Cárdenas, Paco, Cardini, Ulisse, Decelle, Johan, Engelen, Aschwin H., Eveillard, Damien, Gachon, Claire M.M., Griffiths, Sarah M., Harder, Tilmann, Kayal, Ehsan, Kazamia, Elena, Lallier, François H., Medina, Mónica, Marzinelli, Ezequiel M., Morganti, Teresa Maria, Núñez Pons, Laura, Prado, Soizic, Pintado, José, Saha, Mahasweta, Selosse, Marc-André, Skillings, Derek, Stock, Willem, Sunagawa, Shinichi, Toulza, Eve, Vorobev, Alexey, Leblanc, Catherine, Not, Fabrice
Publicado 2021

Increased protease-activated receptor 1 autoantibodies are associated with severe COVID-19

por Tran, Florian, Harris, Danielle M.M., Scharmacher, Alena, Graßhoff, Hanna, Sterner, Kristina, Schinke, Susanne, Käding, Nadja, Humrich, Jens Y., Cabral-Marques, Otávio, Bernardes, Joana P., Mishra, Neha, Bahmer, Thomas, Franzenburg, Jeanette, Hoyer, Bimba F., Glück, Andreas, Guggeis, Martina, Ossysek, Alexander, Küller, Andre, Frank, Derk, Lange, Christoph, Rupp, Jan, Heyckendorf, Jan, Gaede, Karoline I., Amital, Howard, Rosenstiel, Philip, Shoenfeld, Yehuda, Halpert, Gilad, Rosenberg, Avi Z., Schulze-Forster, Kai, Heidecke, Harald, Riemekasten, Gabriela, Schreiber, Stefan
Publicado 2022

Beta-delayed neutron emission of $^{134}In$ and search for $i_{13/2}$ single particle neutron state in $^{133}Sn$

por Grzywacz, R, Madurga, M, Karny, M, Algora, A, Allmond, J M, Bardayan, D, Benito, J, Brewer, N, Fijałkowska, A, Gaffney, LP, Heideman, J, Neupane, S, King, T, Kitamura, T, Fraile, LM, Garcia Borge, MJ, Illana, A, Janas, Z, Jones, KL, Karny, M, King, T, Kolos, K, Korgul, A, Lică, R, Mazzocchi, M, Miernik, K, Page, RD, Piersa, M, Rasco, BC, Rajabali, MM, Rykaczewski, K, Siegl, K, Singh, M, Sotty, C, Tengblad, O, Warr, N, DeWitte, H, Yokoyama, R, Xu, Z
Publicado 2020

Hepatocyte mARC1 promotes fatty liver disease

por Lewis, Lara C., Chen, Lingyan, Hameed, L. Shahul, Kitchen, Robert R., Maroteau, Cyrielle, Nagarajan, Shilpa R., Norlin, Jenny, Daly, Charlotte E., Szczerbinska, Iwona, Hjuler, Sara Toftegaard, Patel, Rahul, Livingstone, Eilidh J., Durrant, Tom N., Wondimu, Elisabeth, BasuRay, Soumik, Chandran, Anandhakumar, Lee, Wan-Hung, Hu, Sile, Gilboa, Barak, Grandi, Megan E., Toledo, Enrique M., Erikat, Abdullah H.A., Hodson, Leanne, Haynes, William G., Pursell, Natalie W., Coppieters, Ken, Fleckner, Jan, Howson, Joanna M.M., Andersen, Birgitte, Ruby, Maxwell A.
Publicado 2023

Charting brain growth and aging at high spatial precision

por Rutherford, Saige, Fraza, Charlotte, Dinga, Richard, Kia, Seyed Mostafa, Wolfers, Thomas, Zabihi, Mariam, Berthet, Pierre, Worker, Amanda, Verdi, Serena, Andrews, Derek, Han, Laura KM, Bayer, Johanna MM, Dazzan, Paola, McGuire, Phillip, Mocking, Roel T, Schene, Aart, Sripada, Chandra, Tso, Ivy F, Duval, Elizabeth R, Chang, Soo-Eun, Penninx, Brenda WJH, Heitzeg, Mary M, Burt, S Alexandra, Hyde, Luke W, Amaral, David, Wu Nordahl, Christine, Andreasssen, Ole A, Westlye, Lars T, Zahn, Roland, Ruhe, Henricus G, Beckmann, Christian, Marquand, Andre F
Publicado 2022

Progressive loss of corneal nerve fibers is associated with physical inactivity and glucose lowering medication associated with weight gain in type 2 diabetes

por Ponirakis, Georgios, Al‐Janahi, Ibrahim, Elgassim, Einas, Gad, Hoda, Petropoulos, Ioannis N, Khan, Adnan, Ali, Hamda, Siddique, Mashhood A, Gul, Wajiha, Ferdousi, Maryam, Kalteniece, Alise, Mohamed, Fatima FS, Ahmed, Lina HM, Dakroury, Youssra, El Shewehy, Abeer MM, Al‐Mohamedi, Abdulrahman, AlMarri, Fatema, Homssi, Moayad, Qazi, Murtaza, Hadid, Nebras H, Al‐Khayat, Fatima, Mahfoud, Ziyad R, Azmi, Shazli, Alam, Uazman, Zirie, Mahmoud A, Al‐Ansari, Yousuf, Jayyousi, Amin, Rigby, Alan S, Kilpatrick, Eric S, Atkin, Stephen L, Malik, Rayaz A
Publicado 2022

Remifentanil patient controlled analgesia versus epidural analgesia in labour. A multicentre randomized controlled trial

por Freeman, Liv M, Bloemenkamp, Kitty WM, Franssen, Maureen TM, Papatsonis, Dimitri NM, Hajenius, Petra J, van Huizen, Marloes E, Bremer, Henk A, van den Akker, Eline SA, Woiski, Mallory D, Porath, Martina M, van Beek, Erik, Schuitemaker, Nico, van der Salm, Paulien CM, Fong, Bianca F, Radder, Celine, Bax, Caroline J, Sikkema, Marko, van den Akker-van Marle, M Elske, van Lith, Jan MM, Lopriore, Enrico, Uildriks, Renske J, Struys, Michel MRF, Mol, Ben Willem J, Dahan, Albert, Middeldorp, Johanna M
Publicado 2012

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

por Tuijnenburg, Paul, Lango Allen, Hana, Burns, Siobhan O., Greene, Daniel, Jansen, Machiel H., Staples, Emily, Stephens, Jonathan, Carss, Keren J., Biasci, Daniele, Baxendale, Helen, Thomas, Moira, Chandra, Anita, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., Oksenhendler, Eric, Simeoni, Ilenia, de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Tuna, Salih, Whitehorn, Deborah, Brown, Matthew, Turro, Ernest, Thrasher, Adrian J., Smith, Kenneth G.C., Thaventhiran, James E., Kuijpers, Taco W.
Publicado 2018

Kappa free light chains is a valid tool in the diagnostics of MS: A large multicenter study

por Leurs, CE, Twaalfhoven, HAM, Lissenberg-Witte, BI, van Pesch, V, Dujmovic, I, Drulovic, J, Castellazzi, M, Bellini, T, Pugliatti, M, Kuhle, J, Villar, LM, Alvarez-Cermeño, JC, Alvarez-Lafuente, R, Hegen, H, Deisenhammer, F, Walchhofer, LM, Thouvenot, E, Comabella, M, Montalban, X, Vécsei, L, Rajda, C, Galimberti, D, Scarpini, E, Altintas, A, Rejdak, K, Frederiksen, JL, Pihl-Jensen, G, Jensen, PEH, Khalil, M, Voortman, MM, Fazekas, F, Saiz, A, La Puma, D, Vercammen, M, Vanopdenbosch, L, Uitdehaag, BMJ, Killestein, J, Bridel, C, Teunissen, C
Publicado 2019

Automatic segmentation of cerebral infarcts in follow-up computed tomography images with convolutional neural networks

por Sales Barros, Renan, Tolhuisen, Manon L, Boers, Anna MM, Jansen, Ivo, Ponomareva, Elena, Dippel, Diederik W J, van der Lugt, Aad, van Oostenbrugge, Robert J, van Zwam, Wim H, Berkhemer, Olvert A, Goyal, Mayank, Demchuk, Andrew M, Menon, Bijoy K, Mitchell, Peter, Hill, Michael D, Jovin, Tudor G, Davalos, Antoni, Campbell, Bruce C V, Saver, Jeffrey L, Roos, Yvo B W E M, Muir, Keith W., White, Phil, Bracard, Serge, Guillemin, Francis, Olabarriaga, Silvia Delgado, Majoie, Charles B L M, Marquering, Henk A
Publicado 2020

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

por Ramarao-Milne, P., Kondrashova, O., Patch, A.-M., Nones, K., Koufariotis, L.T., Newell, F., Addala, V., Lakis, V., Holmes, O., Leonard, C., Wood, S., Xu, Q., Mukhopadhyay, P., Naeini, M.M., Steinfort, D., Williamson, J.P., Bint, M., Pahoff, C., Nguyen, P.T., Twaddell, S., Arnold, D., Grainge, C., Basirzadeh, F., Fielding, D., Dalley, A.J., Chittoory, H., Simpson, P.T., Aoude, L.G., Bonazzi, V.F., Patel, K., Barbour, A.P., Fennell, D.A., Robinson, B.W., Creaney, J., Hollway, G., Pearson, J.V., Waddell, N.
Publicado 2022

Operational Definitions Related to Pediatric Ventilator Liberation

por Abu-Sultaneh, Samer, Iyer, Narayan Prabhu, Fernández, Analía, Gaies, Michael, González-Dambrauskas, Sebastián, Hotz, Justin Christian, Kneyber, Martin C.J., López-Fernández, Yolanda M., Rotta, Alexandre T., Werho, David K., Baranwal, Arun Kumar, Blackwood, Bronagh, Craven, Hannah J., Curley, Martha A.Q., Essouri, Sandrine, Fioretto, Jose Roberto, Hartmann, Silvia M.M., Jouvet, Philippe, Korang, Steven Kwasi, Rafferty, Gerrard F., Ramnarayan, Padmanabhan, Rose, Louise, Tume, Lyvonne N., Whipple, Elizabeth C., Wong, Judith Ju Ming, Emeriaud, Guillaume, Mastropietro, Christopher W., Napolitano, Natalie, Newth, Christopher J.L., Khemani, Robinder G.
Publicado 2023

Perioperative strategy in colonic surgery; LAparoscopy and/or FAst track multimodal management versus standard care (LAFA trial)

por Wind, Jan, Hofland, Jan, Preckel, Benedikt, Hollmann, Markus W, Bossuyt, Patrick MM, Gouma, Dirk J, van Berge Henegouwen, Mark I, Fuhring, Jan Willem, Dejong, Cornelis HC, van Dam, Ronald M, Cuesta, Miguel A, Noordhuis, Astrid, de Jong, Dick, van Zalingen, Edith, Engel, Alexander F, Goei, T Hauwy, de Stoppelaar, I Erica, van Tets, Willem F, van Wagensveld, Bart A, Swart, Annemiek, van den Elsen, Maarten JLJ, Gerhards, Michael F, de Wit, Laurens Th, Siepel, Muriel AM, van Geloven, Anna AW, Juttmann, Jan-Willem, Clevers, Wilfred, Bemelman, Willem A
Publicado 2006