المؤلفون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Alexander, Elizabeth, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, De Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المساهمون: The Genomics England Research Consortium, Solve-RD consortium

المصدر: Human genetics and genomics advances ; 2666-2477

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/grantAgreement/EC/h2020/779257; info:eu-repo/semantics/altIdentifier/isi/000961108100001

الإتاحة: https://doi.org/10.1016/J.XHGG.2023.100186Test
https://hdl.handle.net/10067/1996990151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:19757Test

المؤلفون: Robbe, P., Ridout, K.E., Vavoulis, D.V., Dréau, H., Kinnersley, B., Denny, N., Chubb, D., Appleby, N., Cutts, A., Cornish, A.J., Lopez-Pascua, L., Clifford, R., Burns, A., Stamatopoulos, B., Cabes, M., Alsolami, R., Antoniou, P., Oates, M., Cavalieri, D., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O’Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Allan, J., Bisshopp, G., Blakemore, S., Boultwood, J., Bruce, D., Buffa, F., Buggins, A., Cohen, G., Cwynarski, K., Dearden, C., Dillon, R., Ennis, S., Falciani, F., Follows, G., Forconi, F., Forster, J., Fox, C., Gribben, J., Hockaday, A., Howard, D., Jackson, A., Kalakonda, N., Khan, U., Law, P., Lefevre, P., Lin, K., Maseno, S., Moss, P., Packham, G., Palles, C., Parker, H., Patten, P., Pellagatti, A., Pratt, G., Ramsay, A., Rawstron, A., Rose-Zerilli, M., Slupsky, J., Stankovic, T., Steele, A., Strefford, J., Varadarajan, S., Wagner, S., Westhead, D., Wordsworth, S., Zhuang, J., Gibson, J., Prabhu, A.V., Schwessinger, R., Jennings, D., James, T., Maheswari, U., Duran-Ferrer, M., Carninci, P., Knight, S.J.L., Månsson, R., Hughes, J., Davies, J., Ross, M., Bentley, D., Strefford, J.C., Devereux, S., Pettitt, A.R., Hillmen, P., Houlston, R.S., Martín-Subero, J.I., Schuh, A.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/201587/1/s41588-022-01211-y.pdfTest; Robbe, P. orcid.org/0000-0002-0691-1126 , Ridout, K.E., Vavoulis, D.V. orcid.org/0000-0002-3984-1507 et al. (142 more authors) (2022) Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features. Nature Genetics, 54. pp. 1675-1689. ISSN 1061-4036

الإتاحة: https://eprints.whiterose.ac.uk/201587Test/
https://eprints.whiterose.ac.uk/201587/1/s41588-022-01211-y.pdfTest

المؤلفون: Niggl, E., Bouman, A., Briere, L.C., Hoogenboezem, R.M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E.D.R.O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P.J., Bertrand, M., Blesson, A.E., Clayton-Smith, J., Ellingford, J.M., Gillentine, M.A., Goodloe, D.H., Haack, T.B., Jain, M., Krantz, I., Luu, S.M., McPheron, M., Muss, C.L., Raible, S.E., Robin, N.H., Spiller, M., Starling, S., Sweetser, D.A., Thiffault, I., Vetrini, F., Witt, D., Woods, E., Zhou, D., Elgersma, Y., van Esbroeck, A.C.M., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, M.T., Adams, D.R., Alvarez, R.L., Alvey, J., Allworth, A., Andrews, A., Ashley, E.A., Afzali, B., Bacino, C.A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A.H., Behrens, E., Bejerano, G., Bellen, H.J., Bennet, J., Bernstein, J.A., Berry, G.T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Brown, G., Burke, E.A., Burrage, L.C., Butte, M.J., Byers, P., Byrd, W.E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T.C., Chanprasert, S., Chao, H.-T., Chinn, I., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Coggins, M., Cole, F.S., Colley, H.A., Cope, H., Corona, R., Craigen, W.J., Crouse, A.B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J.G., Delgado, M., Dell'Angelica, E.C., Dipple, K., Doherty, D., Dorrani, N., Doss, A.L., Douine, E.D., Earl, D., Eckstein, D.J., Emrick, L.T., Eng, C.M., Falk, M., Fieg, E.L., Fisher, P.G., Fogel, B.L., Forghani, I., Fu, J., Gahl, W.A., Glass, I., Goddard, P.C., Godfrey, R.A., Grajewski, A., Halley, M.C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F.M., Holm, I.A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G.P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S.N., Kohane, I.S., Kohler, J.N., Korrick, S., Krakow, D., Krasnewich, D.M., Kravets, E., Lalani, S.R., Lam, B., Lam, C., Lanpher, B.C., Lanza, I.R., LeBlanc, K., Lee, B.H., Levitt, R., Lewis, R.A., Liu, P., Liu, X.Z., Longo, N., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Maghiro, A., Mahoney, R., Malicdan, M.C., Mamounas, L.A., Manolio, T.A., Mao, R., Marom, R., Marth, G., Martin, B.A., Martin, M.G., Martínez-Agosto, J.A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A.T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J.J., Nakano-Okuno, M., Nelson, S.F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J.P., Pace, L., Pak, S., Pallais, J.C., Papp, J.C., Parker, N.H., Petcharet, L., Phillips, J.A., Posey, J.E., Potocki, L., Swerdzewski, B.N., Quinlan, A., Rao, D.A., Raper, A., Raskind, W., Renteria, G., Reuter, C., Rives, L., Robertson, A.K., Rodan, L.H., Rosenfeld, J.A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sacco, R., Sampson, J.B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D.A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E., Sinsheimer, J., Sisco, K., Smith, E., Smith, K., Solnica-Krezel, L., Solomon, B., Spillmann, R., Stergachis, A., Stoler, J., Sullivan, K., Sullivan, J., Sutton, S., Sybert, V., Tabor, H.K., Tan, Q.K.-G., Tan, A.L., Tarakad, A., Tekin, M., Telischi, F., Thorson, W., Tifft, C., Toro, C., Tran, A.A., Ungar, R.A., Urv, T.K., Vanderver, A., Velinder, M., Viskochil, D., Vogel, T.P., Wahl, C.E., Walker, M., Walley, N.M., Wambach, J., Wan, J., Wang, L.-K., Wangler, M.F., Ward, P.A., Wegner, D., Weisz, M., Wener, M., Wenger, T., Westerfield, M., Wheeler, M.T., Whitlock, J., Wolfe, L.A., Yamamoto, S., Zhang, Z., Zuchner, S.

العلاقة: Niggl, E. orcid.org/0000-0002-5654-8425 , Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

الإتاحة: https://eprints.whiterose.ac.uk/208871Test/

المؤلفون: Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Rocca, Clarissa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, O’Driscoll, Mary, Suri, Mohnish, Banka, Siddharth, Clayton-Smith, Jill, Wright, Thomas, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Cogne, Benjamin, Jamra, Rami Abu, Bartolomaeus, Tobias, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Gattermann, Felix, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Magry, Virginie, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Bird-Lieberman, Georgina, Hanna, Michael, Koenig, Michel, Stankewich, Michael, Vandrovcova, Jana, Houlden, Henry, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.

المصدر: Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p76-89, 14p

المؤلفون: Tolchin, Dara, Yeager, Jessica, Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian, Haseeb, Abdul, Angelozzi, Marco, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, van Esch, Hilde, Keldermans, Liesbeth, Ortiz, Damara, Lancaster, Emily, Krantz, Ian, Krock, Bryan, Pechter, Kieran, Arkader, Alexandre, Medne, Livija, Dechene, Elizabeth, Calpena, Eduardo, Melistaccio, Giada, Wilkie, Andrew O.M., Suri, Mohnish, Foulds, Nicola, Begtrup, Amber, Henderson, Lindsay, Forster, Cara, Reed, Patrick, Mcdonald, Marie, Mcconkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Tsai, Anne C.H., Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Martin-Coignard, Dominique, Stoeva, Radka, Lefebvre, Véronique, Le Caignec, Cédric, Ambrose, J.C., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., Mcdonagh, E.M., Moutsianas, L., Mueller, M., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.

المساهمون: Children’s Hospital of Philadelphia (CHOP ), Wayne State University School of Medicine, University of California Los Angeles (UCLA), University of California (UC), Children’s Hospital Los Angeles Los Angeles, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, University of Toronto, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University Hospital Essen (AöR), Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, Université de Poitiers = University of Poitiers (UP), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Archet 2 Nice (CHU), University Hospitals Leuven Leuven, University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), John Radcliffe Hospital Oxford University Hospital, Nottingham University Hospitals NHS Trust (NUH), University Hospital Southampton NHS Foundation Trust, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), We thank all individuals and their families who contributed to this study. A.O.M.W. was supported by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre Pro- gramme. This research was made possible in part through access to the data and findings generated by the 100,000 Genomes Proj- ect. The 100,000 Genomes Project is managed by Genomics En- gland Limited (a wholly owned company of the Department of Health and Social Care) and funded by the National Institute for Health Research and the National Health Service (NHS) England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by affected individ- uals and collected by the NHS as part of their care and support. This work was also funded by the Children’s Hospital of Philadelphia.

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: ADHD, SOX6, SOXopathy, craniosynostosis, developmental delay, dysmorphism, genetic variant, human disease, intellectual disability, osteochondroma, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32442410; hal-04576904; https://hal.sorbonne-universite.fr/hal-04576904Test; PUBMED: 32442410; PUBMEDCENTRAL: PMC7273536

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.04.015Test
https://hal.sorbonne-universite.fr/hal-04576904Test

المؤلفون: Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger

المصدر: Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2079-2090, 12p

المؤلفون: Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J., Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah, Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.

المصدر: Genetics in Medicine; April 2024, Vol. 26 Issue: 4

المؤلفون: Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., Varshney, Gaurav K.

المصدر: Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1933-1943, 11p

المؤلفون: Thomas, E.R.A., Shanley, S., Walker, L., Eeles, R.

المصدر: Clinical Oncology ; volume 20, issue 5, page 375-379 ; ISSN 0936-6555

مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging, Oncology

الإتاحة: https://doi.org/10.1016/j.clon.2008.01.007Test
https://api.elsevier.com/content/article/PII:S0936655508000538?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0936655508000538?httpAccept=text/plainTest

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Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, 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, 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. 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المصدر: Genetics in Medicine; 20230101, Issue: Preprints