Universität zu Köln

Journal Article

Becker, Lena-Luise ORCID: 0000-0003-4622-8695, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas ORCID: 0000-0002-0119-5896, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya ORCID: 0000-0001-9439-4677, von der Hagen, Maja and Cirak, Sebahattin (2020). The clinical-phenotype continuum inDYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J. Hum. Genet., 65 (11). S. 1003 - 1018. LONDON: SPRINGERNATURE. ISSN 1435-232X

Dafsari, Hormos Salimi, Becker, Lena-Luise ORCID: 0000-0003-4622-8695, von der Hagen, Maja and Cirak, Sebahattin (2021). Genomic profiling in neuronal dyneinopathies and updated classifications. Am. J. Med. Genet. A, 185 (8). S. 2607 - 2611. HOBOKEN: WILEY. ISSN 1552-4833

Dafsari, Hormos Salimi, Dovern, Anna, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Weiss, Peter H. ORCID: 0000-0002-5230-9080 (2019). Deficient body structural description contributes to apraxic end-position errors in imitation. Neuropsychologia, 133. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-3514

Dafsari, Hormos Salimi, Herzig, Stefan and Matthes, Jan ORCID: 0000-0003-2754-1555 (2017). A multi-centre student survey on weighing disciplines in medical curricula - a pilot study. GMS J. Med. Educ., 34 (2). DUESSELDORF: GERMAN MEDICAL SCIENCE-GMS. ISSN 2366-5017

Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nuernberg, Peter, Motameny, Susanne, Thiele, Holger and Cirak, Sebahattin (2019). Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb. Mol. Case Stud., 5 (6). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

Dafsari, Hormos Salimi, Kocaturk, Nur Mehpare, Daimagueler, Huelya-Sevcan, Brunn, Anna, Doetsch, Joerg, Weis, Joachim, Deckert, Martina and Cirak, Sebahattin (2019). Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy. Acta Neuropathol. Commun., 7 (1). LONDON: BMC. ISSN 2051-5960

Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Karimiani, Ehsan Ghayoor, Hashemi, Narges, Souaid, Mirna ORCID: 0000-0001-8950-3170, Sabbagh, Sandra, Torbati, Paria Najarzadeh, Khan, Suliman ORCID: 0000-0002-0745-7834, Roze, Emmanuel, Moreno-De-Luca, Andres, Bertoli-Avella, Aida M., Houlden, Henry, Balla, Tamas and Maroofian, Reza (2022). PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy. Ann. Clin. Transl. Neurol., 9 (9). S. 1345 - 1359. HOBOKEN: WILEY. ISSN 2328-9503

Dafsari, Hormos Salimi, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Wunderlich, Gilbert, Daimagueler, Huelya-Sevcan, Karaca, Ezgi ORCID: 0000-0002-4926-7991, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tulay ORCID: 0000-0002-4644-2774, Kloss, Manja, Horn, Annette, Pauls, Amande, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne and Cirak, Sebahattin (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J. Hum. Genet., 64 (8). S. 803 - 814. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Klionsky, Daniel J. ORCID: 0000-0002-7828-8118, Abdel-Aziz, Amal Kamal, Abdelfatah, Sara, Abdellatif, Mahmoud ORCID: 0000-0002-5042-9054, Abdoli, Asghar, Abel, Steffen, Abeliovich, Hagai, Abildgaard, Marie H., Abudu, Yakubu Princely ORCID: 0000-0002-8798-270X, Acevedo-Arozena, Abraham ORCID: 0000-0001-6127-7116, Adamopoulos, Iannis E., Adeli, Khosrow, Adolph, Timon E., Adornetto, Annagrazia ORCID: 0000-0003-1869-2642, Aflaki, Elma, Agam, Galila, Agarwal, Anupam, Aggarwal, Bharat B., Agnello, Maria, Agostinis, Patrizia, Agrewala, Javed N., Agrotis, Alexander ORCID: 0000-0002-4875-4499, Aguilar, Patricia, V, Ahmad, S. Tariq, Ahmed, Zubair M., Ahumada-Castro, Ulises, Aits, Sonja, Aizawa, Shu, Akkoc, Yunus, Akoumianaki, Tonia, Akpinar, Hafize Aysin, Al-Abd, Ahmed M., Al-Akra, Lina, Al-Gharaibeh, Abeer, Alaoui-Jamali, Moulay A., Alberti, Simon ORCID: 0000-0003-4017-6505, Alcocer-Gomez, Elisabet, Alessandri, Cristiano, Ali, Muhammad, Al-Bari, M. 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Bast, Basu, Alakananda, Batoko, Henri, Batten, Isabella, Baulieu, Etienne E., Baumgarner, Bradley L., Bayry, Jagadeesh ORCID: 0000-0003-0498-9808, Beale, Rupert ORCID: 0000-0002-6705-8560, Beau, Isabelle, Beaumatin, Florian, Bechara, Luiz R. G., Beck, George R., Jr., Beers, Michael F., Begun, Jakob ORCID: 0000-0001-5256-7672, Behrends, Christian ORCID: 0000-0002-9184-7607, Behrens, Georg M. N., Bei, Roberto, Bejarano, Eloy ORCID: 0000-0001-8390-1581, Bel, Shai ORCID: 0000-0002-7166-4870, Behl, Christian, Belaid, Amine, Belgareh-Touze, Naima, Bellarosa, Cristina, Belleudi, Francesca, Bello Perez, Melissa, Bello-Morales, Raquel, de Oliveira Beltran, Jackeline Soares, Beltran, Sebastian, Benbrook, Doris Mangiaracina, Bendorius, Mykolas, Benitez, Bruno A., Benito-Cuesta, Irene, Bensalem, Julien ORCID: 0000-0003-3873-4627, Berchtold, Martin W., Berezowska, Sabina, Bergamaschi, Daniele ORCID: 0000-0002-3955-1091, Bergami, Matteo, Bergmann, Andreas, Berliocchi, Laura, Berlioz-Torrent, Clarisse, Bernard, Amelie, Berthoux, Lionel, Besirli, Cagri G., Besteiro, Sebastien, Betin, Virginie M., Beyaert, Rudi, Bezbradica, Jelena S., Bhaskar, Kiran, Bhatia-Kissova, Ingrid, Bhattacharya, Resham, Bhattacharya, Sujoy ORCID: 0000-0003-4443-9691, Bhattacharyya, Shalmoli, Bhuiyan, Md Shenuarin, Bhutia, Sujit Kumar, Bi, Lanrong, Bi, Xiaolin ORCID: 0000-0002-7172-7851, Biden, Trevor J., Bijian, Krikor, Billes, Viktor A., Binart, Nadine, Bincoletto, Claudia, Birgisdottir, Asa B., Bjorkoy, Geir, Blanco, Gonzalo, Blas-Garcia, Ana ORCID: 0000-0001-7870-1470, Blasiak, Janusz ORCID: 0000-0001-9539-9584, Blomgran, Robert ORCID: 0000-0002-2767-8175, Blomgren, Klas, Blum, Janice S., Boada-Romero, Emilio, Boban, Mirta, BoeszeBattaglia, Kathleen, Boeuf, Philippe, Boland, Barry ORCID: 0000-0003-2676-4343, Bomont, Pascale, Bonaldo, Paolo, Bonam, Srinivasa Reddy, Bonfili, Laura, Bonifacino, Juan S., Boone, Brian A., Bootman, Martin D., Bordi, Matteo, Borner, Christoph, Bornhauser, Beat C., Borthakur, Gautam, Bosch, Jurgen, Bose, Santanu, Botana, Luis M., Botas, Juan, Boulanger, Chantal M., Boulton, Michael E., Bourdenx, Mathieu, Bourgeois, Benjamin, Bourke, Nollaig M., Bousquet, Guilhem, Boya, Patricia, Bozhkov, Peter, V, Bozi, Luiz H. M., Bozkurt, Tolga O., Brackney, Doug E., Brandts, Christian H., Braun, Ralf J., Braus, Gerhard H., Bravo-Sagua, Roberto, Bravo-San Pedro, Jose M., Brest, Patrick, Bringer, Marie-Agnes ORCID: 0000-0002-3746-4998, Briones-Herrera, Alfredo, Broaddus, V. Courtney, Brodersen, Peter, Alvarez, Elida M. C., Brodsky, Jeffrey L., Brody, Steven L., Bronson, Paola G., Bronstein, Jeff M., Brown, Carolyn N., Brown, Rhoderick E., Brum, Patricia C., Brumell, John H., Brunetti-Pierri, Nicola, Bruno, Daniele ORCID: 0000-0002-2550-3267, Bryson-Richardson, Robert J., Bucci, Cecilia, Buchrieser, Carmen, Bueno, Marta ORCID: 0000-0001-7140-9899, Buitrago-Molina, Laura Elisa ORCID: 0000-0002-0051-2044, Buraschi, Simone, Buch, Shilpa, Buchan, J. Ross, Buckingham, Erin M., Budak, Hikmet ORCID: 0000-0002-2556-2478, Budini, Mauricio, Bultynck, Geert, Burada, Florin, Burgoyne, Joseph R., Buron, M. 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Brent, Carvalho, Andreia Neves, Casanova, Magali, Casas, Caty, Casas, Josefina, Cassioli, Chiara, Castillo, Eliseo F., Castillo, Karen, Castillo-Lluva, Sonia, Castoldi, Francesca, Castori, Marco, Castro, Ariel F., Castro-Caldas, Margarida ORCID: 0000-0002-5829-8933, Castro-Hernandez, Javier, Castro-Obregon, Susana, Catz, Sergio D., Cavadas, Claudia ORCID: 0000-0001-8020-9266, Cavaliere, Federica, Cavallini, Gabriella, Cavinato, Maria, Cayuela, Maria L., Rica, Paula Cebollada, Cecarini, Valentina, Cecconi, Francesco, Cechowska-Pasko, Marzanna ORCID: 0000-0002-2806-399X, Cenci, Simone, Ceperuelo-Mallafre, Victoria, Cerqueira, Joao J., Cerutti, Janete M., Cervia, Davide, Cetintas, Vildan Bozok, Cetrullo, Silvia, Chae, Han-Jung, Chagin, Andrei S., Chai, Chee-Yin ORCID: 0000-0003-0486-9742, Chakrabarti, Gopal, Chakrabarti, Oishee, Chakraborty, Tapas, Chakraborty, Trinad, Chami, Mounia ORCID: 0000-0003-1498-7187, Chamilos, Georgios ORCID: 0000-0002-7987-4055, Chan, David W., Chan, Edmond Y. W., Chan, Edward D., Chan, H. Y. Edwin, Chan, Helen H., Chan, Hung, Chan, Matthew T., V, Chan, Yau Sang, Chandra, Partha K., Chang, Chih-Peng, Chang, Chunmei, Chang, Hao-Chun, Chang, Kai, Chao, Jie, Chapman, Tracey, Charlet-Berguerand, Nicolas ORCID: 0000-0002-4423-4920, Chatterjee, Samrat, Chaube, Shail K., Chaudhary, Anu, Chauhan, Santosh, Chaum, Edward, Checler, Frederic ORCID: 0000-0003-2098-1750, Cheetham, Michael E., Chen, ChangShi, Chen, Guang-Chao, Chen, Jian-Fu, Chen, Liam L., Chen, Leilei, Chen, Lin, Chen, Mingliang, Chen, MuKuan, Chen, Ning ORCID: 0000-0002-8191-6744, Chen, Quan, Chen, Ruey-Hwa, Chen, Shi, Chen, Wei, Chen, Weiqiang, Chen, XinMing, Chen, Xiong-Wen, Chen, Xu, Chen, Yan, Chen, Ye-Guang, Chen, Yingyu, Chen, Yongqiang ORCID: 0000-0003-2309-5674, Chen, YuJen, Chen, Yue-Qin, Chen, Zhefan Stephen, Chen, Zhi, Chen, Zhi-Hua, Chen, Zhijian J., Chen, Zhixiang, Cheng, Hanhua, Cheng, Jun, Cheng, Shi-Yuan, Cheng, Wei, Cheng, Xiaodong, Cheng, Xiu-Tang, Cheng, Yiyun, Cheng, Zhiyong, Chen, Zhong, Cheong, Heesun, Cheong, Jit Kong, Chernyak, Boris, V, Cherry, Sara, Cheung, Chi Fai Randy, Cheung, Chun Hei Antonio ORCID: 0000-0003-4181-1435, Cheung, King-Ho, Chevet, Eric, Chi, Richard J., Chiang, Alan Kwok Shing, Chiaradonna, Ferdinando, Chiarelli, Roberto, Chiariello, Mario ORCID: 0000-0001-8434-5177, Chica, Nathalia, Chiocca, Susanna, Chiong, Mario, Chiou, Shih-Hwa, Chiramel, Abhilash, I, Chiurchiu, Valerio ORCID: 0000-0002-0316-7311, Cho, Dong-Hyung, Choe, Seong-Kyu, Choi, Augustine M. 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