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2021
Dworschak, Gabriel C., Punetha, Jaya 
ORCID: 0000-0002-6774-4464, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Heron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan ORCID: 0000-0001-6461-0957, Chung, Wendy K., O'Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo ORCID: 0000-0002-7272-7079, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Oeznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R. and Reutter, Heiko
(2021).
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet. Med., 23 (9).
S. 1715 - 1726.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1530-0366
2020
Hagenacker, Tim, Wurster, Claudia D., Guenther, Rene, Schreiber-Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Weiler, Markus, Ziegler, Andreas, Kuttler, Josua, Koch, Jan C., Schneider, Ilka, Wunderlich, Gilbert, Schloss, Natalie, Lehmann, Helmar C., Cordts, Isabell, Deschauer, Marcus, Lingor, Paul ORCID: 0000-0001-9362-7096, Kamm, Christoph, Stolte, Benjamin, Pietruck, Lena, Totzeck, Andreas, Kizina, Kathrin, Monninghoff, Christoph, von Velsen, Otgonzul, Ose, Claudia, Reichmann, Heinz, Forsting, Michael, Pechmann, Astrid, Kirschner, Janbernd, Ludolph, Albert C., Hermann, Andreas and Kleinschnitz, Christoph
(2020).
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.
Lancet Neurol., 19 (4).
S. 317 - 326.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1474-4465
2019
Brown, Peter, Tan, Aik-Choon, El-Esawi, Mohamed A., Liehr, Thomas ORCID: 0000-0003-1672-3054, Blanck, Oliver, Gladue, Douglas P., Almeida, Gabriel M. F., Cernava, Tomislav ORCID: 0000-0001-7772-4080, Sorzano, Carlos O., Yeung, Andy W. K., Engel, Michael S., Chandrasekaran, Arun Richard, Muth, Thilo, Staege, Martin S., Daulatabad, Swapna V., Widera, Darius, Zhang, Junpeng, Meule, Adrian ORCID: 0000-0002-6639-8977, Honjo, Ken, Pourret, Olivier ORCID: 0000-0001-6181-6079, Yin, Cong-Cong, Zhang, Zhongheng, Cascella, Marco, Flegel, Willy A., Goodyear, Carl S., van Raaij, Mark J., Bukowy-Bieryllo, Zuzanna, Campana, Luca G., Kurniawan, Nicholas A., Lalaouna, David ORCID: 0000-0002-0347-5816, Huttner, Felix J., Ammerman, Brooke A., Ehret, Felix, Cobine, Paul A., Tan, Ene-Choo, Han, Hyemin ORCID: 0000-0001-7181-2565, Xia, Wenfeng ORCID: 0000-0002-1147-6886, McCrum, Christopher ORCID: 0000-0002-4927-1114, Dings, Ruud P. M., Marinello, Francesco ORCID: 0000-0002-3283-5665, Nilsson, Henrik, Nixon, Brett, Voskarides, Konstantinos ORCID: 0000-0002-3705-3451, Yang, Long, Costa, Vincent D., Bengtsson-Palme, Johan, Bradshaw, William, Grimm, Dominik G., Kumar, Nitin, Martis, Elvis, Prieto, Daniel ORCID: 0000-0001-8356-1708, Sabnis, Sandeep C., Amer, Said E. D. R., Liew, Alan W. C., Perco, Paul, Rahimi, Farid ORCID: 0000-0002-0920-8188, Riva, Giuseppe, Zhang, Chongxing, Devkota, Hari P., Ogami, Koichi ORCID: 0000-0001-9380-9666, Basharat, Zarrin ORCID: 0000-0003-1785-3803, Fierz, Walter, Siebers, Robert, Tan, Kok-Hian, Boehme, Karen A., Brenneisen, Peter, Brown, James A. L., Dalrymple, Brian P., Harvey, David J., Ng, Grace, Werten, Sebastiaan ORCID: 0000-0003-2244-9688, Bleackley, Mark, Dai, Zhanwu ORCID: 0000-0002-7625-8337, Dhariwal, Raman, Gelfer, Yael, Hartmann, Marcus D., Miotla, Pawel, Tamaian, Radu ORCID: 0000-0001-6380-1460, Govender, Pragashnie, Gurney-Champion, Oliver J., Kauppila, Joonas H., Zhang, Xiaolei, Echeverria, Natalia, Subhash, Santhilal ORCID: 0000-0002-0077-4597, Sallmon, Hannes, Tofani, Marco, Bae, Taeok, Bosch, Oliver, Cuiv, Paraic O., Danchin, Antoine, Diouf, Barthelemy, Eerola, Tuomas, Evangelou, Evangelos, Filipp, Fabian V., Klump, Hannes, Kurgan, Lukasz ORCID: 0000-0002-7749-0314, Smith, Simon S., Terrier, Olivier ORCID: 0000-0001-9393-7684, Tuttle, Neil ORCID: 0000-0002-4924-5741, Ascher, David B., Janga, Sarath C., Schulte, Leon N., Becker, Daniel ORCID: 0000-0003-4315-8628, Browngardt, Christopher, Bush, Stephen J., Gaullier, Guillaume ORCID: 0000-0003-3405-6021, Ide, Kazuki, Meseko, Clement, Werner, Gijsbert D. A., Zaucha, Jan, Al-Farha, Abd A., Greenwald, Noah F., Popoola, Segun I. 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G., Beyene, Tariku J., Cao, Zehong ORCID: 0000-0003-3656-0328, Chan, Sherwin S., Gatchell, Michael ORCID: 0000-0003-1028-7976, Kleppe, Andreas ORCID: 0000-0002-8370-5289, Piotrowski, Marcin ORCID: 0000-0001-6106-7282, Torga, Gonzalo, Woldesemayat, Adugna A., Cosacak, Mehmet I., Haston, Scott, Ross, Stephanie A., Williams, Richard, Wong, Alvin, Abramowitz, Matthew K., Effiong, Andem, Lee, Senhong, Abid, Muhammad Bilal ORCID: 0000-0002-1128-0445, Agarabi, Cyrus, Alaux, Cedric ORCID: 0000-0002-3045-2599, Albrecht, Dirk R., Atkins, Gerald J., Beck, Charles R., Bonvin, A. M. J. J., Bourke, Emer, Brand, Thomas ORCID: 0000-0001-7090-5356, Braun, Ralf J., Bull, James A., Cardoso, Pedro ORCID: 0000-0001-8119-9960, Carter, Dee ORCID: 0000-0002-4638-0059, Delahay, Robin M., Ducommun, Bernard, Duijf, Pascal H. G., Epp, Trevor, Eskelinen, Eeva-Liisa ORCID: 0000-0003-0006-7785, Fallah, Mazyar, Farber, Debora B., Fernandez-Triana, Jose, Feyerabend, Frank, Florio, Tullio ORCID: 0000-0002-2394-996X, Friebe, Michael, Furuta, Saori, Gabrielsen, Mads, Gruber, Jens, Grybos, Malgorzata, Han, Qian, Heinrich, Michael, Helantera, Heikki, Huber, Michael, Jeltsch, Albert ORCID: 0000-0001-6113-9290, Jiang, Fan, Josse, Claire ORCID: 0000-0003-0315-3718, Jurman, Giuseppe, Kamiya, Haruyuki ORCID: 0000-0002-2618-3146, de Keersmaecker, Kim, Kristiansson, Erik, de Leeuw, Frank-Erik, Li, Jiuyong ORCID: 0000-0002-9023-1878, Liang, Shide, Lopez-Escamez, Jose A., Lopez-Ruiz, Francisco J., Marchbank, Kevin J., Marschalek, Rolf, Martin, Carmen S., Miele, Adriana E., Montagutelli, Xavier, Morcillo, Esteban, Nicoletti, Rosario, Niehof, Monika, O'Toole, Ronan ORCID: 0000-0002-4579-4479, Ohtomo, Toshihiko, Oster, Henrik ORCID: 0000-0002-1414-7068, Palma, Jose-Alberto ORCID: 0000-0002-1345-6774, Paterson, Russell, Peifer, Mark, Portilla, Maribel, Portillo, M. C., Pritchard, Antonia L., Pusch, Stefan, Raghava, Gajendra P. S., Roberts, Nicola J., Ross, Kehinde, Schuele, Birgitt, Sergeant, Kjell, Shen, Jun ORCID: 0000-0002-9403-7140, Stella, Alessandro ORCID: 0000-0002-9035-6267, Sukocheva, Olga ORCID: 0000-0003-1041-3311, Uversky, Vladimir N. ORCID: 0000-0002-4037-5857, Vanneste, Sven, Villet, Martin H., Viveiros, Miguel ORCID: 0000-0001-9676-6251, Vorholt, Julia A., Weinstock, Christof, Yamato, Masayuki, Zabetakis, Ioannis ORCID: 0000-0001-8175-950X, Zhao, Xin, Ziegler, Andreas, Aizat, Wan M., Atlas, Lauren, Bridges, Kristina M., Chakraborty, Sayan, Deschodt, Mieke, Domingues, Helena S., Esfahlani, Shabnam S., Falk, Sebastian, Guisado, J. L., Kane, Nolan C., Kueberuwa, Gray, Lau, Colleen L., Liang, Dai, Liu, Enwu ORCID: 0000-0003-2580-3523, Luu, Andreas M., Ma, Chuang, Ma, Lisong, Moyer, Robert, Norris, Adam D., Panthee, Suresh ORCID: 0000-0003-4021-7936, Parsons, Jerod R., Peng, Yousong, Pinto, Ines Mendes, Reschke, Cristina R., Sillanpaa, Elina, Stewart, Christopher J., Uhle, Florian, Yang, Hui, Zhou, Kai, Zhu, Shu, Ashry, Mohamed ORCID: 0000-0001-6259-1764, Bergsland, Niels, Berthold, Maximilian ORCID: 0000-0003-1985-6426, Chen, Chang-Er, Colella, Vito, Cuypers, Maarten, Eskew, Evan A., Fan, Xiao, Gajda, Maksymilian, Gonzalezlez-Prendes, Rayner, Goodin, Amie, Graham, Emily B., Groen, Ewout J. N., Gutierrez-Sacristan, Alba, Habes, Mohamad, Heffler, Enrico, Higginbottom, Daniel B., Janzen, Thijs, Jayaraman, Jayakumar, Jibb, Lindsay A., Jongen, Stefan, Kinyanjui, Timothy ORCID: 0000-0001-5461-4946, Koleva-Kolarova, Rositsa G., Li, Zhixiu, Liu, Yu-Peng, Lund, Bjarte A., Lussier, Alexandre A., Ma, Liping, Mier, Pablo ORCID: 0000-0003-3663-2352, Moore, Matthew D., Nagler, Katja, Orme, Mark W., Pearson, James A., Prajapati, Anilkumar S., Saito, Yu, Troder, Simon E., Uchendu, Florence, Verloh, Niklas, Voutchkova, Denitza D., Abu-Zaid, Ahmed, Bakkach, Joaira, Baumert, Philipp ORCID: 0000-0002-5463-1954, Dono, Marcos ORCID: 0000-0002-6895-2433, Hanson, Jack, Herbelet, Sandrine ORCID: 0000-0003-1911-0173, Hobbs, Emma, Kulkarni, Ameya, Kumar, Narendra, Liu, Siqi, Loft, Nikolai D., Reddan, Tristan, Senghore, Thomas ORCID: 0000-0002-9846-9485, Vindin, Howard, Xu, Haotian, Bannon, Ross, Chen, Branson ORCID: 0000-0002-4224-0753, Cheung, Johnny T. K., Cooper, Jeffrey, Esnakul, Ashwini K., Feghali, Karine A., Ghelardi, Emilia, Gnasso, Agostino, Horbar, Jeffrey, Lai, Hei M., Li, Jian, Ma, Lan, Ma, Ruiyan, Pan, Zihang, Peres, Marco A., Pranata, Raymond ORCID: 0000-0003-3998-6551, Seow, Esmond, Sydes, Matthew ORCID: 0000-0002-9323-1371, Testoni, Ines, Westermair, Anna L., Yang, Yongliang, Afnan, Masoud, Albiol, Joan, Albuquerque, Lucia G., Amiya, Eisuke ORCID: 0000-0003-2810-8040, Amorim, Rogerio M., An, Qianli ORCID: 0000-0001-6641-8977, Andersen, Stig U., Aplin, John D., Argyropoulos, Christos, Asmann, Yan W., Assaeed, Abdulaziz M., Atanasov, Atanas G., Atchison, David A., Avery, Simon V., Avillach, Paul, Baade, Peter D., Backman, Lars, Badie, Christophe, Baldi, Alfonso, Ball, Elizabeth, Bardot, Olivier, Barnett, Adrian G., Basner, Mathias, Batra, Jyotsna, Bazanova, O. M., Beale, Andrew, Beddoe, Travis, Bell, Melanie L., Berezikov, Eugene, Berners-Price, Sue, Bernhardt, Peter, Berry, Edward, Bessa, Theolis B., Billington, Craig, Birch, John, Blakely, Randy D., Blaskovich, Mark A. T., Blum, Robert, Boelaert, Marleen, Bogdanos, Dimitrios, Bosch, Carles, Bourgoin, Thierry, Bouvard, Daniel, Boykin, Laura M., Bradley, Graeme, Braun, Daniel, Brownlie, Jeremy, Bruhl, Albert, Burt, Austin ORCID: 0000-0001-5146-9640, Butler, Lisa M., Byrareddy, Siddappa N., Byrne, Hugh J., Cabantous, Stephanie ORCID: 0000-0002-8406-9421, Calatayud, Sara, Candal, Eva, Carlson, Kimberly, Casillas, Sonia ORCID: 0000-0001-8191-0062, Castelvetro, Valter, Caswell, Patrick T., Cavalli, Giacomo, Cerovsky, Vaclav, Chagoyen, Monica, Chen, Chang-Shi, Chen, Dong F., Chen, Hao, Chen, Hui, Chen, Jui-Tung, Chen, Yinglong ORCID: 0000-0003-0798-8683, Cheng, Changxiu, Cheng, Jianlin, Chinapaw, Mai, Chinopoulos, Christos ORCID: 0000-0003-0183-4149, Cho, William C. S., Chong, Lillian, Chowdhury, Debashish, Chwalibog, Andre, Ciresi, A., Cockcroft, Shamshad, Conesa, Ana, Cook, Penny A., Cooper, David N., Coqueret, Olivier, Corea, Enoka M., Costa, Elisio ORCID: 0000-0003-1158-1480, Coupland, Carol, Crawford, Stephanie Y., Cruz, Aparecido D., Cui, Huijuan, Cui, Qiang, Culver, David C., D'Angiulli, Amedeo, Dahms, Tanya E. S., Daigle, France, Dalgleish, Raymond, Danielsen, Havard E., Darras, Sebastien, Davidson, Sean M., Day, David A., Degirmenci, Volkan, Demaison, Luc, Devriendt, Koenraad, Ding, Jiandong, Dogan, Yunus, Dong, X. C., Donner, Claudio F., Dressick, Walter, Drevon, Christian A., Duan, Huiling, Ducho, Christian, Dumaz, Nicolas ORCID: 0000-0003-3511-2160, Dwarakanath, Bilikere S., Ebell, Mark H., Eisenhardt, Steffen, Elkum, Naser ORCID: 0000-0002-0457-0444, Engel, Nadja, Erickson, Timothy B., Fairhead, Michael ORCID: 0000-0001-5361-3933, Faville, Marty J., Fejzo, Marlena S., Festa, Fernanda, Feteira, Antonio, Flood-Page, Patrick, Forsayeth, John, Fox, Simon A., Franks, Steven J., Frentiu, Francesca D., Frilander, Mikko J., Fu, Xinmiao ORCID: 0000-0003-3361-6904, Fujita, Satoshi, Galea, Ian ORCID: 0000-0002-1268-5102, Galluzzi, Luca ORCID: 0000-0002-1747-526X, Gani, Federica, Ganpule, Arvind P., Garcia-Alix, Antonio, Gedye, Kristene, Giordano, Maurizio ORCID: 0000-0001-9917-7591, Giunta, Cecilia, Gleeson, Paul A., Goarant, Cyrille ORCID: 0000-0002-0690-9464, Gong, Haipeng, Gora, Diop, Gough, Michael J., Goyal, Ravinder, Graham, Kathryn E., Grande-Perez, Ana, Graves, Patricia M., Greidanus, Harm, Grice, Darren, Grunau, Christoph ORCID: 0000-0002-2161-412X, Gumulya, Yosephine, Guo, Yabin, Gurevich, Vsevolod V., Gusev, Oleg ORCID: 0000-0002-6203-9758, Hacker, Elke, Hage, Steffen R., Hagen, Guy, Hahn, Steven, Haller, Dagmar M., Hammerschmidt, Sven, Han, Jianwei, Han, Renzhi, Handfield, Martin, Hapuarachchi, Hapuarachchige C., Harder, Timm, Hardingham, Jennifer E., Heck, Michelle, Heers, Marcel, Hew, Khe F., Higuchi, Yohei, St Hilaire, Cynthia, Hilton, Rachel, Hodzic, Enisa, Hone, Andrew, Hongoh, Yuichi ORCID: 0000-0002-5901-9625, Hu, Guoku ORCID: 0000-0002-4792-0416, Huber, Heinz P., Hueso, Luis E., Huirne, Judith, Hurt, Lisa, Idborg, Helena ORCID: 0000-0003-4041-4729, Ikeo, Kazuho, Ingley, Evan, Jakeman, Philip M., Jensen, Arne, Jia, Hong, Jia, Husen, Jia, Shuqin, Jiang, Jianping, Jiang, Xingyu, Jin, Yi, Jo, Daehyun, Johnson, Andrew M., Johnston, Marie, Jonscher, Karen R., Jorens, Philippe G., Jorgensen, Jens O. L., Joubert, Johan W., Jung, Sin-Ho, Junior, Antonio M., Kahan, Thomas, Kamboj, Sunjeev K., Kang, Yong-Kook, Karamanos, Yannis ORCID: 0000-0002-2411-6636, Karp, Natasha A., Kelly, Ryan, Kenna, Ralph, Kennedy, Jonathan, Kersten, Birgit, Khalaf, Roy A., Khalid, Javaria M., Khatlani, T., Khider, Tarig, Kijanka, Gregor S., King, Sarah R. B., Kluz, Tomasz, Knox, Paul, Kobayashi, Tatsuya, Koch, Karl-Wilhelm, Kohonen-Corish, Maija R. J., Kong, Xiangpeng, Konkle-Parker, Deborah, Korpela, Kalevi M., Kostrikis, Leondios G., Kraiczy, Peter, Kratz, Harald, Krause, Gunter, Krebsbach, Paul H., Kristensen, Soren R., Kumari, Prerna, Kunimatsu, Akira, Kurdak, Hatice, Kwon, Young D., Lachat, Carl, Lagisz, Malgorzata, Laky, Brenda, Lammerding, Jan, Lange, Matthias, Larrosa, Mar, Laslett, Andrew L., LeClair, Elizabeth E., Lee, Kyung-Woo, Lee, Ming-Yih, Lee, Moon-Soo ORCID: 0000-0003-0729-6943, Li, Genyuan, Li, Jiansheng, Lieb, Klaus, Lim, Yau Y., Lindsey, Merry L., Line, Paul-Dag, Liu, Dengcai, Liu, Fengbin, Liu, Haiyan, Liu, Hongde, Lloyd, Vett K., Lo, Te-Wen, Locci, Emanuela, Loidl, Josef, Lorenzen, Johan, Lorkowski, Stefan, Lovell, Nigel H., Lu, Hua, Lu, Wei, Lu, Zhiyong, Luengo, Gustavo S. ORCID: 0000-0001-8816-5536, Lundh, Lars-Gunnar, Lysy, Philippe A., Mabb, Angela, Mack, Heather G., Mackey, David A., Mahdavi, S. R., Maher, Pamela, Maher, Toby ORCID: 0000-0001-7192-9149, Maity, Sankar N., Malgrange, Brigitte, Mamoulakis, Charalampos, Mangoni, Arduino A., Manke, Thomas, Manstead, Antony S. R., Mantalaris, Athanasios, Marsal, Jan, Marschall, Hanns-Ulrich ORCID: 0000-0001-7347-3085, Martin, Francis L., Martinez-Raga, Jose ORCID: 0000-0002-2856-6562, Martinez-Salas, Encarnacion, Mathieu, Daniel, Matsui, Yoichi, Maza, Elie, McCutcheon, James E., Mckay, Gareth J., McMillan, Brian ORCID: 0000-0002-0683-3877, McMillan, Nigel, Meads, Catherine, Medina, Loreta, Merrick, B. Alex, Metzger, Dennis W., Meunier, Frederic A., Michaelis, Martin, Micheau, Olivier, Mihara, Hisaaki, Mintz, Eric M., Mizukami, Takuo ORCID: 0000-0001-6105-6049, Moalic, Yann ORCID: 0000-0001-7385-7484, Mohapatra, D. P., Monteiro, Antonia, Montes, Matthieu ORCID: 0000-0001-5921-460X, Moran, John V., Morozov, Sergey Y., Mort, Matthew, Murai, Noriyuki, Murphy, Denis J., Murphy, Susan K., Murray, Shauna A., Naganawa, Shinji ORCID: 0000-0002-0214-613X, Nammi, Srinivas, Nasios, Grigorios, Natoli, Roman M., Nguyen, Frederique, Nicol, Christine ORCID: 0000-0001-6734-2177, van Nieuwerburgh, Filip, Nilsen, Erlend B., Nobile, Clarissa J., O'Mahony, Margaret, Ohlsson, Sophie, Olatunbosun, Oluremi, Olofsson, Per, Ortiz, Alberto, Ostrikov, Kostya, Otto, Siegmar ORCID: 0000-0001-9645-2586, Outeiro, Tiago F., Ouyang, Songying, Paganoni, Sabrina, Page, Andrew, Palm, Christoph, Paradies, Yin, Parsons, Michael H., Parsons, Nick, Pascal, Pigny, Paul, Elisabeth ORCID: 0000-0002-3928-4093, Peckham, Michelle, Pedemonte, Nicoletta, Pellizzon, Michael A., Petrelli, M., Pichugin, Alexander, Pinto, Carlos J. 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