Reduced scan time and superior image quality with 3D flow MRI compared to 4D flow MRI for hemodynamic evaluation of the Fontan pathway

por Rijnberg, Friso M., van Assen, Hans C., Juffermans, Joe F., Kroft, Lucia J. M., van den Boogaard, Pieter J., de Koning, Patrick J. H., Hazekamp, Mark G., van der Woude, Séline F. S., Warmerdam, Evangeline G., Leiner, Tim, Grotenhuis, Heynric B., Goeman, Jelle J., Lamb, Hildo J., Roest, Arno A. W., Westenberg, Jos J. M.
Publicado 2021

Phospho-heavy-labeled-spiketide FAIMS stepped-CV DDA (pHASED) provides real-time phosphoproteomics data to aid in cancer drug selection

por Staudt, Dilana E., Murray, Heather C., Skerrett-Byrne, David A., Smith, Nathan D., Jamaluddin, M. Fairuz B., Kahl, Richard G. S., Duchatel, Ryan J., Germon, Zacary P., McLachlan, Tabitha, Jackson, Evangeline R., Findlay, Izac J., Kearney, Padraic S., Mannan, Abdul, McEwen, Holly P., Douglas, Alicia M., Nixon, Brett, Verrills, Nicole M., Dun, Matthew D.
Publicado 2022

Treatment and outcome of aquaporin-4 antibody–positive NMOSD: A multinational pediatric study

por Paolilo, Renata Barbosa, Hacohen, Yael, Yazbeck, Elise, Armangue, Thais, Bruijstens, Arlette, Lechner, Christian, Apostolos-Pereira, Samira Luisa, Martynenko, Yana, Breu, Markus, de Medeiros Rimkus, Carolina, Wassmer, Evangeline, Baumann, Matthias, Papetti, Laura, Capobianco, Marco, Kornek, Barbara, Rostásy, Kevin, da Paz, José Albino, Ciccarelli, Olga, Lim, Ming, Saiz, Albert, Neuteboom, Rinze, Marignier, Romain, Hemingway, Cheryl, Sato, Douglas Kazutoshi, Deiva, Kumaran
Publicado 2020

The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects

por Coll-Tané, Mireia, Gong, Naihua N., Belfer, Samuel J., van Renssen, Lara V., Kurtz-Nelson, Evangeline C., Szuperak, Milan, Eidhof, Ilse, van Reijmersdal, Boyd, Terwindt, Isabel, Durkin, Jaclyn, Verheij, Michel M. M., Kim, Chang N., Hudac, Caitlin M., Nowakowski, Tomasz J., Bernier, Raphael A., Pillen, Sigrid, Earl, Rachel K., Eichler, Evan E., Kleefstra, Tjitske, Kayser, Matthew S., Schenck, Annette
Publicado 2021

Factors Associated With Relapse and Treatment of Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease in the United Kingdom

por Satukijchai, Chanjira, Mariano, Romina, Messina, Silvia, Sa, Mario, Woodhall, Mark R., Robertson, Neil P., Ming, Lim, Wassmer, Evangeline, Kneen, Rachel, Huda, Saif, Jacob, Anu, Blain, Camilla, Halfpenny, Christopher, Hemingway, Cheryl, O'Sullivan, Eoin, Hobart, Jeremy, Fisniku, Leonora K., Martin, Roswell, Dopson, Ruth, Cooper, Sarah A., Williams, Victoria, Waters, Patrick J., Ramdas, Sithara, Leite, Maria Isabel, Palace, Jacqueline
Publicado 2022

Oligoclonal bands increase the specificity of MRI criteria to predict multiple sclerosis in children with radiologically isolated syndrome

por Makhani, Naila, Lebrun, Christine, Siva, Aksel, Narula, Sona, Wassmer, Evangeline, Brassat, David, Brenton, J Nicholas, Cabre, Philippe, Carra Dallière, Clarisse, de Seze, Jérôme, Durand Dubief, Francoise, Inglese, Matilde, Langille, Megan, Mathey, Guillaume, Neuteboom, Rinze F, Pelletier, Jean, Pohl, Daniela, Reich, Daniel S, Ignacio Rojas, Juan, Shabanova, Veronika, Shapiro, Eugene D, Stone, Robert T, Tenembaum, Silvia, Tintoré, Mar, Uygunoglu, Ugur, Vargas, Wendy, Venkateswaren, Sunita, Vermersch, Patrick, Kantarci, Orhun, Okuda, Darin T, Pelletier, Daniel
Publicado 2019

Preclinical and clinical evaluation of German-sourced ONC201 for the treatment of H3K27M-mutant diffuse intrinsic pontine glioma

por Duchatel, Ryan J, Mannan, Abdul, Woldu, Ameha S, Hawtrey, Tom, Hindley, Phoebe A, Douglas, Alicia M, Jackson, Evangeline R, Findlay, Izac J, Germon, Zacary P, Staudt, Dilana, Kearney, Padraic S, Smith, Nathan D, Hindley, Kate E, Cain, Jason E, André, Nicolas, La Madrid, Andres Morales, Nixon, Brett, De Iuliis, Geoffry N, Nazarian, Javad, Irish, Kathleen, Alvaro, Frank, Eisenstat, David D, Beck, Alexander, Vitanza, Nicholas A, Mueller, Sabine, Morris, Jonathan C, Dun, Matthew D
Publicado 2021

The molecular portraits of breast tumors are conserved across microarray platforms

por Hu, Zhiyuan, Fan, Cheng, Oh, Daniel S, Marron, JS, He, Xiaping, Qaqish, Bahjat F, Livasy, Chad, Carey, Lisa A, Reynolds, Evangeline, Dressler, Lynn, Nobel, Andrew, Parker, Joel, Ewend, Matthew G, Sawyer, Lynda R, Wu, Junyuan, Liu, Yudong, Nanda, Rita, Tretiakova, Maria, Orrico, Alejandra Ruiz, Dreher, Donna, Palazzo, Juan P, Perreard, Laurent, Nelson, Edward, Mone, Mary, Hansen, Heidi, Mullins, Michael, Quackenbush, John F, Ellis, Matthew J, Olopade, Olufunmilayo I, Bernard, Philip S, Perou, Charles M
Publicado 2006

Genomic analysis of SARS-CoV-2 reveals local viral evolution in Ghana

por Ngoi, Joyce M, Quashie, Peter K, Morang'a, Collins M, Bonney, Joseph HK, Amuzu, Dominic SY, Kumordjie, Selassie, Asante, Ivy A, Bonney, Evelyn Y, Eshun, Miriam, Boatemaa, Linda, Magnusen, Vanessa, Kotey, Erasmus N, Ndam, Nicaise T, Tei-Maya, Frederick, Arjarquah, Augustina K, Obodai, Evangeline, Otchere, Isaac D, Bediako, Yaw, Mutungi, Joe K, Amenga-Etego, Lucas N, Odoom, John K, Anang, Abraham K, Kyei, George B, Adu, Bright, Ampofo, William K, Awandare, Gordon A
Publicado 2020

The development of lived experience-centered word clouds to support research uncertainty gathering in degenerative cervical myelopathy: results from an engagement process and proto...

por Davies, Benjamin M., Mowforth, Oliver D., Khan, Danyal Z., Yang, Xiaoyu, Stacpoole, Sybil R. L., Hazenbiller, Olesja, Gronlund, Toto, Tetreault, Lindsay, Kalsi-Ryan, Sukhvinder, Starkey, Michelle L., Sadler, Iwan, Sarewitz, Ellen, Houlton, Delphine, Carter, Julia, Howard, Evangeline, Rahimi-Movaghar, Vafa, Guest, James D., Aarabi, Bizhan, Kwon, Brian K., Kurpad, Shekar N., Harrop, James, Wilson, Jefferson R., Grossman, Robert, Smith, Emma K., McNair, Angus G.K., Fehlings, Michael G., Kotter, Mark R. N.
Publicado 2021

SARS-CoV-2 Molecular Evolutionary Dynamics in the Greater Accra Region, Ghana

por Adu, Bright, Bonney, Joseph H.K., Egyir, Beverly, Otchere, Isaac Darko, Asare, Prince, Dennis, Francis E., Bonney, Evelyn Yayra, Akuffo, Richard, Asante, Ivy A., Obodai, Evangeline, Kumordjie, Selassie, Appiah-Kubi, Joyce, Mohktar, Quaneeta, Frempong, Hilda Opoku, Asiedu-Bekoe, Franklin, Adusei-Poku, Mildred A., Aboagye, James O., Agbodzi, Bright, Yeboah, Clara, Agbenyo, Seyram B., Uche, Peace O., Attiku, Keren O., Sekyere, Bernice Twenewaa, Laryea, Dennis, Buabeng, Kwame, Lamptey, Helena, Ghansah, Anita, Yeboah-Manu, Dorothy, Anang, Abraham K., Ampofo, William K., Kyei, George B., Odoom, John K.
Publicado 2023

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

por Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A., Earl, Rachel K., Kurtz-Nelson, Evangeline C., Idleburg, Michaela J., Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D., Ramos, Luiza L.P., Santos, Mara Lucia S.F., Martin, Donna M., Brooks, Dan, Symonds, Joseph D., Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E., Xia, Kun, Guo, Hui
Publicado 2022

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

por Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève
Publicado 2019

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study

por Ray, Stephen T J, Abdel-Mannan, Omar, Sa, Mario, Fuller, Charlotte, Wood, Greta K, Pysden, Karen, Yoong, Michael, McCullagh, Helen, Scott, David, McMahon, Martin, Thomas, Naomi, Taylor, Micheal, Illingworth, Marjorie, McCrea, Nadine, Davies, Victoria, Whitehouse, William, Zuberi, Sameer, Guthrie, Keira, Wassmer, Evangeline, Shah, Nikit, Baker, Mark R, Tiwary, Sangeeta, Tan, Hui Jeen, Varma, Uma, Ram, Dipak, Avula, Shivaram, Enright, Noelle, Hassell, Jane, Ross Russell, Amy L, Kumar, Ram, Mulholland, Rachel E, Pett, Sarah, Galea, Ian, Thomas, Rhys H, Benjamin, Laura A, Lim, Ming, Hacohen, Yael, Solomon, Tom, Griffiths, Michael J, Michael, Benedict D, Kneen, Rachel
Publicado 2021

Global, regional, and national disease burden estimates of acute lower respiratory infections due to respiratory syncytial virus in children younger than 5 years in 2019: a systema...

por Li, You, Wang, Xin, Blau, Dianna M, Caballero, Mauricio T, Feikin, Daniel R, Gill, Christopher J, Madhi, Shabir A, Omer, Saad B, Simões, Eric A F, Campbell, Harry, Pariente, Ana Bermejo, Bardach, Darmaa, Bassat, Quique, Casalegno, Jean-Sebastien, Chakhunashvili, Giorgi, Crawford, Nigel, Danilenko, Daria, Do, Lien Anh Ha, Echavarria, Marcela, Gentile, Angela, Gordon, Aubree, Heikkinen, Terho, Huang, Q Sue, Jullien, Sophie, Krishnan, Anand, Lopez, Eduardo Luis, Markić, Joško, Mira-Iglesias, Ainara, Moore, Hannah C, Moyes, Jocelyn, Mwananyanda, Lawrence, Nokes, D James, Noordeen, Faseeha, Obodai, Evangeline, Palani, Nandhini, Romero, Candice, Salimi, Vahid, Satav, Ashish, Seo, Euri, Shchomak, Zakhar, Singleton, Rosalyn, Stolyarov, Kirill, KStoszek, Sonia, von Gottberg, Anne, Wurzel, Danielle, Yoshida, Lay-Myint, Yung, Chee Fu, Zar, Heather J, Nair, Harish
Publicado 2022

ONC201 in Combination with Paxalisib for the Treatment of H3K27-Altered Diffuse Midline Glioma

por Jackson, Evangeline R., Duchatel, Ryan J., Staudt, Dilana E., Persson, Mika L., Mannan, Abdul, Yadavilli, Sridevi, Parackal, Sarah, Game, Shaye, Chong, Wai Chin, Jayasekara, W. Samantha N., Grand, Marion Le, Kearney, Padraic S., Douglas, Alicia M., Findlay, Izac J., Germon, Zacary P., McEwen, Holly P., Beitaki, Tyrone S., Patabendige, Adjanie, Skerrett-Byrne, David A., Nixon, Brett, Smith, Nathan D., Day, Bryan, Manoharan, Neevika, Nagabushan, Sumanth, Hansford, Jordan R., Govender, Dinisha, McCowage, Geoff B., Firestein, Ron, Howlett, Meegan, Endersby, Raelene, Gottardo, Nicholas G., Alvaro, Frank, Waszak, Sebastian M., Larsen, Martin R., Colino-Sanguino, Yolanda, Valdes-Mora, Fatima, Rakotomalala, Andria, Meignan, Samuel, Pasquier, Eddy, André, Nicolas, Hulleman, Esther, Eisenstat, David D., Vitanza, Nicholas A., Nazarian, Javad, Koschmann, Carl, Mueller, Sabine, Cain, Jason E., Dun, Matthew D.
Publicado 2023

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

por Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun (Helen), Swoboda, Kathryn J., Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, McMillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A., Kurtz-Nelson, Evangeline C., Earl, Rachel K., Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thomas, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G., Morrow, Michelle M., Eichler, Evan E., Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui
Publicado 2022

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

por Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep
Publicado 2022

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

por Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
Publicado 2017

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

por Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Publicado 2020