Universität zu Köln

2022

Fazeli, Walid, Bamborschke, Daniel, Moawia, Abubakar, Bakhtiari, Somayeh, Tafakhori, Abbas, Giersdorf, Matthias, Hahn, Andreas, Weik, Anja, Kolzter, Kirsten, Shafiee, Sajad, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Koerber, Friederike, Lee-Kirsch, Min Ae, Darvish, Hossein, Cirak, Sebahattin, Kruer, Michael C. and Koy, Anne (2022). The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. Eur. J. Paediatr. Neurol., 36. S. 7 - 14. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans and den Dunnen, Johan T. (2022). Stepwise ABC system for classification of any type of genetic variant. Eur. J. Hum. Genet., 30 (2). S. 150 - 160. LONDON: SPRINGERNATURE. ISSN 1476-5438

Kaczmarek, Alexander Tobias, Bender, Daniel, Gehling, Titus, Kohl, Joshua Benedict, Daimagueler, Hulya-Sevcan, Santamaria-Araujo, Jose Angel, Liebau, Max Christoph, Koy, Anne, Cirak, Sebahattin and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2022). A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency. J. Inherit. Metab. Dis., 45 (2). S. 169 - 183. HOBOKEN: WILEY. ISSN 1573-2665

2021

Bamborschke, Daniel, Kreutzer, Mona, Koy, Anne, Koerber, Friederike, Lucas, Nadja, Huenseler, Christoph, Herkenrath, Peter, Lee-Kirsch, Min Ae and Cirak, Sebahattin (2021). PNPT1 mutations may cause Aicardi-Goutie` res-Syndrome. Brain Dev., 43 (2). S. 320 - 325. AMSTERDAM: ELSEVIER. ISSN 1872-7131

Bamborschke, Daniel, Oezdemir, Oezkan, Kreutzer, Mona, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Kribs, Angela, Doetsch, Joerg, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. Am. J. Med. Genet. A, 185 (1). S. 90 - 97. HOBOKEN: WILEY. ISSN 1552-4833

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

Daimagueler, Huelya-Sevcan, Akpulat, Ugur, Oezdemir, Oezkan, Yis, Uluc, Gungor, Serdal, Talim, Beril, Diniz, Gulden, Baydan, Figen, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am. J. Med. Genet. A, 185 (6). S. 1678 - 1691. HOBOKEN: WILEY. ISSN 1552-4833

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten ORCID: 0000-0002-7384-9182, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa ORCID: 0000-0003-4453-017X, Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2021). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018). Am. J. Hum. Genet., 108 (12). S. 2385 - 2386. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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. Abdul Alim, Aliwaini, Saeb ORCID: 0000-0001-8795-201X, Alizadeh, Javad, Almacellas, Eugenia, Almasan, Alexandru, Alonso, Alicia ORCID: 0000-0002-2730-7470, Alonso, Guillermo D., Altan-Bonnet, Nihal, Altieri, Dario C., Alves, Sara ORCID: 0000-0003-0404-5954, da Costa, Cristine Alves ORCID: 0000-0002-7777-005X, Alzaharna, Mazen M., Amadio, Marialaura, Amantini, Consuelo, Amaral, Cristina, Ambrosio, Susanna, Amer, Amal O., Ammanathan, Veena ORCID: 0000-0002-5142-380X, An, Zhenyi, Andersen, Stig U., Andrabi, Shaida A., Andrade-Silva, Magaiver, Andres, Allen M., Angelini, Sabrina, Ann, David, Anozie, Uche C., Ansari, Mohammad Y., Antas, Pedro ORCID: 0000-0002-4149-943X, Antebi, Adam, Anton, Zurine, Anwar, Tahira, Apetoh, Lionel, Apostolova, Nadezda, Araki, Toshiyuki ORCID: 0000-0002-1179-4534, Araki, Yasuhiro, Arasaki, Kohei, Araujo, Wagner L., Araya, Jun, Arden, Catherine, Arevalo, Maria-Angeles, Arguelles, Sandro ORCID: 0000-0001-8450-3227, Arias, Esperanza ORCID: 0000-0002-7836-5072, Arikkath, Jyothi, Arimoto, Hirokazu, Ariosa, Aileen R., Armstrong-James, Darius, Arnaune-Pelloquin, Laetitia, Aroca, Angeles, Arroyo, Daniela S., Arsov, Ivica, Artero, Ruben ORCID: 0000-0003-1596-047X, Asaro, Dalia Maria Lucia, Aschner, Michael, Ashrafizadeh, Milad, Ashur-Fabian, Osnat ORCID: 0000-0001-8624-3182, Atanasov, Atanas G. ORCID: 0000-0003-2545-0967, Au, Alicia K., Auberger, Patrick, Auner, Holger W., Aurelian, Laure, Autelli, Riccardo, Avagliano, Laura, Avalos, Yenniffer, Aveic, Sanja, Aveleira, Celia Alexandra, AvinWittenberg, Tamar, Aydin, Yucel, Ayton, Scott ORCID: 0000-0002-3479-2427, Ayyadevara, Srinivas, Azzopardi, Maria ORCID: 0000-0002-3097-6878, Baba, Misuzu, Backer, Jonathan M., Backues, Steven K., Bae, Dong-Hun, Bae, Ok-Nam, Bae, Soo Han ORCID: 0000-0002-8007-2906, Baehrecke, Eric H., Baek, Ahruem, Baek, Seung-Hoon, Baek, Sung Hee, Bagetta, Giacinto ORCID: 0000-0001-8540-6218, Bagniewska-Zadworna, Agnieszka ORCID: 0000-0003-2828-1505, Bai, Hua, Bai, Jie, Bai, Xiyuan, Bai, Yidong, Bairagi, Nandadulal ORCID: 0000-0001-8867-7996, Baksi, Shounak ORCID: 0000-0001-7225-5377, Balbi, Teresa ORCID: 0000-0002-7495-6000, Baldari, Cosima T., Balduini, Walter ORCID: 0000-0001-8438-9559, Ballabio, Andrea, Ballester, Maria, Balazadeh, Salma, Balzan, Rena, Bandopadhyay, Rina, Banerjee, Sreeparna, Banerjee, Sulagna, Bao, Yan, Baptista, Mauricio S., Baracca, Alessandra, Barbati, Cristiana, Bargiela, Ariadna, Barila, Daniela, Barlow, Peter G., Barmada, Sami J., Barreiro, Esther, Barreto, George E., Bartek, Jiri, Bartel, Bonnie ORCID: 0000-0002-6367-346X, Bartolome, Alberto ORCID: 0000-0002-3382-0553, Barve, Gaurav R., Basagoudanavar, Suresh H., Bassham, Diane C., Jr, Robert C. 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. Isabel, Bustos, Victor, Buttner, Sabrina ORCID: 0000-0002-2786-8542, Butturini, Elena, Byrd, Aaron, Cabas, Isabel, Cabrera-Benitez, Sandra, Cadwell, Ken ORCID: 0000-0002-5860-0661, Cai, Jingjing, Cai, Lu, Cai, Qian, Cairo, Montserrat, Calbet, Jose A., Caldwell, Guy A., Caldwell, Kim A., Call, Jarrod A., Calvani, Riccardo ORCID: 0000-0001-5472-2365, Calvo, Ana C., Barrera, Miguel Calvo-Rubio, Camara, Niels Os, Camonis, Jacques H., Camougrand, Nadine, Campanella, Michelangelo ORCID: 0000-0002-6948-4184, Campbell, Edward M., Campbell-Valois, Francois-Xavier, Campello, Silvia, Campesi, Ilaria, Campos, Juliane C., Camuzard, Olivier, Cancino, Jorge, de Almeida, Danilo Candido, Canesi, Laura, Caniggia, Isabella, Canonico, Barbara, Canti, Carles, Cao, Bin, Caraglia, Michele, Carames, Beatriz ORCID: 0000-0002-8353-6526, Carchman, Evie H., Cardenal-Munoz, Elena, Cardenas, Cesar, Cardenas, Luis, Cardoso, Sandra M., Carew, Jennifer S., Carle, Georges F., Carleton, Gillian, Carloni, Silvia, Carmona-Gutierrez, Didac, Carneiro, Leticia A., Carnevali, Oliana, Carosi, Julian M., Carra, Serena, Carrier, Alice, Carrier, Lucie, Carroll, Bernadette, Carter, A. 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. K., Choi, Mary E., Choudhury, Kamalika Roy, Chow, Norman S., Chu, Charleen T., Chua, Jason P., Chua, John Jia En ORCID: 0000-0002-5615-1014, Chung, Hyewon, Chung, Kin Pan ORCID: 0000-0003-2786-3095, Chung, Seockhoon ORCID: 0000-0002-9798-3642, Chung, So-Hyang, Chung, Yuen-Li, Cianfanelli, Valentina, Ciechomska, Iwona A., Cifuentes, Mariana, Cinque, Laura, Cirak, Sebahattin, Cirone, Mara, Clague, Michael J., Clarke, Robert ORCID: 0000-0002-9278-0854, Clementi, Emilio, Coccia, Eliana M., Codogno, Patrice, Cohen, Ehud, Cohen, Mickael M., Colasanti, Tania, Colasuonno, Fiorella, Colbert, Robert A., Colell, Anna, Coll, Nuria S., Collins, Mark O., Colombo, Maria, I, Colon-Ramos, Daniel A., Combaret, Lydie, Comincini, Sergio, Cominetti, Marcia R., Consiglio, Antonella, Conte, Andrea, Conti, Fabrizio, Contu, Viorica Raluca, Cookson, Mark R., Coombs, Kevin M., Coppens, Isabelle, Corasaniti, Maria Tiziana, Corkery, Dale P., Cordes, Nils, Cortese, Katia, Costa, Maria do Carmo, Costantino, Sarah, Costelli, Paola, Coto-Montes, Ana, Crack, Peter J., Crespo, Jose L., Criollo, Alfredo, Crippa, Valeria, Cristofani, Riccardo, Csizmadia, Tamas, Cuadrado, Antonio, Cui, Bing, Cui, Jun, Cui, Yixian ORCID: 0000-0001-8260-1421, Cui, Yong, Culetto, Emmanuel ORCID: 0000-0003-4725-2654, Cumino, Andrea C., Cybulsky, Andrey, V, Czaja, Mark J., Czuczwar, Stanislaw J., D'Adamo, Stefania, D'Amelio, Marcello, D'Arcangelo, Daniela, D'Lugos, Andrew C., D'Orazi, Gabriella ORCID: 0000-0001-6876-9105, da Silva, James A., Dafsari, Hormos Salimi, Dagda, Ruben K., Dagdas, Yasin, Daglia, Maria, Dai, Xiaoxia, Dai, Yun, Dai, Yuyuan, Dal Col, Jessica ORCID: 0000-0002-0042-2161, Dalhaimer, Paul, Dalla Valle, Luisa, Dallenga, Tobias ORCID: 0000-0002-1737-0687, Dalmasso, Guillaume, Damme, Markus, Dando, Ilaria, Dantuma, Nico P., Darling, April L., Das, Hiranmoy, Dasarathy, Srinivasan, Dasari, Santosh K., Dash, Srikanta, Daumke, Oliver, Dauphinee, Adrian N., Davies, Jeffrey S., Davila, Valeria A., Davis, Roger J., Davis, Tanja, Naidu, Sharadha Dayalan, De Amicis, Francesca, De Bosscher, Karolien ORCID: 0000-0001-5059-9718, De Felice, Francesca, De Franceschi, Lucia, De Leonibus, Chiara, de Mattos Barbosa, Mayara G., De Meyer, Guido R. 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Victoria, Demarchi, Francesca, Dembitz, Vilma, Demers, Nicholas D., Deng, Hongbin, Deng, Zhiqiang, Dengjel, Joern, Dent, Paul, Denton, Donna, DePamphilis, Melvin L., Der, Channing J., Deretic, Vojo, Descoteaux, Albert, Devis, Laura, Devkota, Sushil, Devuyst, Olivier, Dewson, Grant, Dharmasivam, Mahendiran ORCID: 0000-0001-8430-827X, Dhiman, Rohan, di Bernardo, Diego, Di Cristina, Manlio, Di Domenico, Fabio ORCID: 0000-0002-2013-209X, Di Fazio, Pietro ORCID: 0000-0003-0091-8498, Di Fonzo, Alessio ORCID: 0000-0001-6478-026X, Di Guardo, Giovanni, Di Guglielmo, Gianni M., Di Leo, Luca, Di Malta, Chiara, Di Nardo, Alessia, Di Rienzo, Martina, Di Sano, Federica, Diallinas, George, Diao, Jiajie ORCID: 0000-0003-4288-3203, Diaz-Araya, Guillermo, Diaz-Laviada, Ines, Dickinson, Jared M., Diederich, Marc ORCID: 0000-0003-0115-4725, Dieude, Melanie ORCID: 0000-0002-9300-4232, Dikic, Ivan ORCID: 0000-0001-8156-9511, Ding, Shiping, Ding, Wen-Xing, Dini, Luciana, Dinic, Miroslav ORCID: 0000-0001-5275-4531, Dinkova-Kostova, Albena T., Dionne, Marc S., Distler, Jorg H. W., Diwan, Abhinav, Dixon, Ian M. C., Djavaheri-Mergny, Mojgan, Dobrinski, Ina, Dobrovinskaya, Oxana, Dobrowolski, Radek, Dobson, Renwick C. J., Emre, Serap Dokmeci, Donadelli, Massimo, Dong, Bo, Dong, Xiaonan ORCID: 0000-0001-7967-2755, Dong, Zhiwu ORCID: 0000-0002-3792-9556, Ii, Gerald W. Dorn, Dotsch, Volker, Dou, Huan, Dou, Juan, Dowaidar, Moataz ORCID: 0000-0002-6189-3020, Dridi, Sami, Drucker, Liat, Du, Ailian, Du, Caigan, Du, Guangwei, Du, Hai-Ning ORCID: 0000-0001-8062-5411, Du, Li-Lin, du Toit, Andre, Duan, Shao-Bin, Duan, Xiaoqiong, Duarte, Sonia P., Dubrovska, Anna, Dunlop, Elaine A., Dupont, Nicolas ORCID: 0000-0002-3056-9906, Duran, Raul, V, Dwarakanath, Bilikere S., Dyshlovoy, Sergey A. ORCID: 0000-0002-7155-9245, Ebrahimi-Fakhari, Darius, Eckhart, Leopold, Edelstein, Charles L., Efferth, Thomas, Eftekharpour, Eftekhar, Eichinger, Ludwig, Eid, Nabil, Eisenberg, Tobias ORCID: 0000-0003-3559-1130, Eissa, N. 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ORCID: 0000-0002-7407-3398, Lund, Viktor K., Lunemann, Jan D., Luningschror, Patrick, Luo, Honglin, Luo, Rongcan, Luo, Shouqing, Luo, Zhi, Luparello, Claudio, Luscher, Bernhard ORCID: 0000-0002-9622-8709, Luu, Luan, Lyakhovich, Alex ORCID: 0000-0002-8279-4697, Lyamzaev, Konstantin G., Lystad, Alf Hakon, Lytvynchuk, Lyubomyr, Ma, Alvin C., Ma, Changle, Ma, Mengxiao, Ma, Ning-Fang, Ma, Quan-Hong, Ma, Xinliang, Ma, Yueyun, Ma, Zhenyi, MacDougald, Ormond A., Macian, Fernando, MacIntosh, Gustavo C., MacKeigan, Jeffrey P., Macleod, Kay F., Maday, Sandra, Madeo, Frank ORCID: 0000-0002-5070-1329, Madesh, Muniswamy, Madl, Tobias, Madrigal-Matute, Julio ORCID: 0000-0002-0894-5450, Maeda, Akiko, Maejima, Yasuhiro, Magarinos, Marta, Mahavadi, Poornima, Maiani, Emiliano ORCID: 0000-0003-1432-5394, Maiese, Kenneth, Maiti, Panchanan, Maiuri, Maria Chiara, Majello, Barbara, Major, Michael B., Makareeva, Elena, Malik, Fayaz, Mallilankaraman, Karthik, Malorni, Walter, Maloyan, Alina, Mammadova, Najiba, Man, Gene Chi Wai, Manai, Federico, Mancias, Joseph D., Mandelkow, Eva-Maria, Mandell, Michael A., Manfredi, Angelo A., Manjili, Masoud H., Manjithaya, Ravi, Manque, Patricio, Manshian, Bella B., Manzano, Raquel, Manzoni, Claudia, Mao, Kai, Marchese, Cinzia, Marchetti, Sandrine ORCID: 0000-0001-8326-5730, Marconi, Anna Maria, Marcucci, Fabrizio, Mardente, Stefania ORCID: 0000-0001-9032-9667, Mareninova, Olga A., Margeta, Marta, Mari, Muriel ORCID: 0000-0002-2677-6945, Marinelli, Sara ORCID: 0000-0001-5393-4796, Marinelli, Oliviero ORCID: 0000-0001-5518-5303, Marino, Guillermo, Mariotto, Sofia, Marshall, Richard S., Marten, Mark R., Martens, Sascha, Martin, Alexandre P. J., Martin, Katie R., Martin, Sara, Martin, Shaun, Martin-Segura, Adrian, Martin-Acebes, Miguel A., Martin-Burriel, Inmaculada, Martin-Rincon, Marcos ORCID: 0000-0002-3685-2331, Martin-Sanz, Paloma, Martina, Jose A., Martinet, Wim, Martinez, Aitor, Martinez, Ana ORCID: 0000-0002-2707-8110, Martinez, Jennifer, Martinez Velazquez, Moises, Martinez-Lopez, Nuria, Martinez-Vicente, Marta, Martins, Daniel O., Lange, Ulo, Lopez-Perez, Oscar, Martins, Joilson O. ORCID: 0000-0003-2630-7038, Martins, Waleska K., Martins-Marques, Tania ORCID: 0000-0001-5798-3923, Marzetti, Emanuele ORCID: 0000-0001-9567-6983, Masaldan, Shashank ORCID: 0000-0003-4960-4983, Masclaux-Daubresse, Celine, Mashek, Douglas G., Massa, Valentina ORCID: 0000-0003-2246-9515, Massieu, Lourdes, Masson, Glenn R., Masuelli, Laura, Masyuk, Anatoliy, I, Masyuk, Tetyana, V, Matarrese, Paola, Matheu, Ander, Matoba, Satoaki, Matsuzaki, Sachiko, Mattar, Pamela ORCID: 0000-0002-8505-4088, Matte, Alessandro, Mattoscio, Domenico, Mauriz, Jose L., Mauthe, Mario, Mauvezin, Caroline ORCID: 0000-0003-4220-7272, Maverakis, Emanual, Maycotte, Paola ORCID: 0000-0003-4059-0554, Mayer, Johanna, Mazzoccoli, Gianluigi, Mazzoni, Cristina ORCID: 0000-0002-1504-6189, Mazzulli, Joseph R., McCarty, Nami, McDonald, Christine, McGill, Mitchell R., McKenna, Sharon L., McLaughlin, BethAnn, McLoughlin, Fionn, McNiven, Mark A., McWilliams, Thomas G., Mechta-Grigoriou, Fatima, Medeiros, Tania Catarina, Medina, Diego L., Megeney, Lynn A., Megyeri, Klara, Mehrpour, Maryam, Mehta, Jawahar L., Meijer, Alfred J., Meijer, Annemarie H., Mejlvang, Jakob, Melendez, Alicia, Melk, Annette, Memisoglu, Gonen, Mendes, Alexandrina F., Meng, Delong ORCID: 0000-0001-5183-4564, Meng, Fei, Meng, Tian, Menna-Barreto, Rubem ORCID: 0000-0002-1352-0641, Menon, Manoj B., Mercer, Carol, Mercier, Anne E., Mergny, Jean-Louis ORCID: 0000-0003-3043-8401, Merighi, Adalberto, Merkley, Seth D., Merla, Giuseppe, Meske, Volker, Mestre, Ana Cecilia, Metur, Shree Padma, Meyer, Christian, Meyer, Hemmo, Mi, Wenyi, Mialet-Perez, Jeanne, Miao, Junying, Micale, Lucia ORCID: 0000-0003-3604-194X, Miki, Yasuo, Milan, Enrico ORCID: 0000-0003-3094-4275, Miller, Dana L., Miller, Samuel, I, Miller, Silke, Millward, Steven W., Milosevic, Ira, Minina, Elena A., Mirzaei, Hamed, Mirzaei, Hamid Reza ORCID: 0000-0002-3303-2565, Mirzaei, Mehdi, Mishra, Amit, Mishra, Nandita ORCID: 0000-0003-1502-8949, Mishra, Paras Kumar, Marjanovic, Maja Misirkic, Misasi, Roberta, Misra, Amit, Misso, Gabriella, Mitchell, Claire, Mitou, Geraldine, Miura, Tetsuji, Miyamoto, Shigeki, Miyazaki, Makoto, Miyazaki, Mitsunori ORCID: 0000-0001-7824-2091, Miyazaki, Taiga, Miyazawa, Keisuke, Mizushima, Noboru ORCID: 0000-0002-6258-6444, Mogensen, Trine H., Mograbi, Baharia, Mohammadinejad, Reza, Mohamud, Yasir ORCID: 0000-0002-3950-2070, Mohanty, Abhishek, Mohapatra, Sipra, Mohlmann, Torsten, Mohmmed, Asif, Moles, Anna, Moley, Kelle H., Molinari, Maurizio, Mollace, Vincenzo, Muller, Andreas Buch, Mollereau, Bertrand ORCID: 0000-0003-4710-8185, Mollinedo, Faustino, Montagna, Costanza, Monteiro, Mervyn J., Montella, Andrea, Montes, L. Ruth, Montico, Barbara ORCID: 0000-0001-6783-2969, Mony, Vinod K., Compagnoni, Giacomo Monzio, Moore, Michael N., Moosavi, Mohammad A., Mora, Ana L., Mora, Marina, Morales-Alamo, David ORCID: 0000-0001-8463-397X, Moratalla, Rosario, Moreira, Paula, I, Morelli, Elena, Moreno, Sandra, Moreno-Blas, Daniel ORCID: 0000-0002-8394-8205, Moresi, Viviana, Morga, Benjamin, Morgan, Alwena H., Morin, Fabrice, Morishita, Hideaki ORCID: 0000-0003-0860-8371, Moritz, Orson L., Moriyama, Mariko, Moriyasu, Yuji, Morleo, Manuela ORCID: 0000-0002-7553-3245, Morselli, Eugenia, Moruno-Manchon, Jose F., Moscat, Jorge, Mostowy, Serge, Motori, Elisa, Moura, Andrea Felinto, Moustaid-Moussa, Naima, Mrakovcic, Maria, MucinoHernandez, Gabriel, Mukherjee, Anupam ORCID: 0000-0002-0612-2258, Mukhopadhyay, Subhadip, Levy, Jean M. Mulcahy, Mulero, Victoriano, Muller, Sylviane, Munch, Christian, Munjal, Ashok, Munoz-Canoves, Pura, Munoz-Galdeano, Teresa ORCID: 0000-0003-3526-819X, Munz, Christian, Murakawa, Tomokazu, Muratori, Claudia, Murphy, Brona M., Murphy, J. Patrick, Murthy, Aditya, Myohanen, Timo T., Mysorekar, Indira U., Mytych, Jennifer ORCID: 0000-0002-1265-973X, Nabavi, Seyed Mohammad ORCID: 0000-0001-8859-5675, Nabissi, Massimo, Nagy, Peter ORCID: 0000-0002-5053-0646, Nah, Jihoon, Nahimana, Aimable, Nakagawa, Ichiro, Nakamura, Ken, Nakatogawa, Hitoshi, Nandi, Shyam S., Nanjundan, Meera, Nanni, Monica, Napolitano, Gennaro, Nardacci, Roberta ORCID: 0000-0002-9209-1207, Narita, Masashi, Nassif, Melissa ORCID: 0000-0002-5039-5245, Nathan, Ilana, Natsumeda, Manabu ORCID: 0000-0003-3098-8323, Naude, Ryno J., Naumann, Christin, Naveiras, Olaia ORCID: 0000-0003-3434-0022, Navid, Fatemeh, Nawrocki, Steffan T., Nazarko, Taras Y., Nazio, Francesca, Negoita, Florentina, Neill, Thomas, Neisch, Amanda L., Neri, Luca M., Netea, Mihai G., Neubert, Patrick, Neufeld, Thomas P., Neumann, Dietbert ORCID: 0000-0002-4316-684X, Neutzner, Albert, Newton, Phillip T., Ney, Paul A., Nezis, Ioannis P., Ng, Charlene C. W., Ng, Tzi Bun, Nguyen, Hang T. T., Nguyen, Long T., Ni, Hong-Min, Cheallaigh, Cliona Ni, Ni, Zhenhong, Nicolao, M. Celeste, Nicoli, Francesco ORCID: 0000-0001-6327-5958, Nieto-Diaz, Manuel ORCID: 0000-0002-7244-794X, Nilsson, Per, Ning, Shunbin, Niranjan, Rituraj, Nishimune, Hiroshi, Niso-Santano, Mireia, Nixon, Ralph A., Nobili, Annalisa ORCID: 0000-0001-8369-1561, Nobrega, Clevio, Noda, Takeshi ORCID: 0000-0003-3581-7961, Nogueira-Recalde, Uxia, Nolan, Trevor M., Nombela, Ivan, Novak, Ivana, Novoa, Beatriz, Nozawa, Takashi, Nukina, Nobuyuki, Nussbaum-Krammer, Carmen and Nylandsted, Jesper ORCID: 0000-0001-6474-5093 (2021). Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy, 17 (1). S. 1 - 383. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1554-8635

Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Oezdemir, Oezkan, Daimagueler, Hulya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joel, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma ORCID: 0000-0002-3810-306X, Hanna, Michael ORCID: 0000-0003-0825-4075, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schroeder, Rolf, Thiel, Christian, Reimann, Jens ORCID: 0000-0003-3349-6877, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Dominguez-Gonzalez, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz and Gautel, Mathias (2021). Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathol., 141 (3). S. 431 - 454. NEW YORK: SPRINGER. ISSN 1432-0533

Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Ayaz, Ali, Zafar ORCID: 0000-0002-2389-3337, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, ul Haque, Saif, Altmueller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood and Nuernberg, Peter (2021). A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes, 12 (10). BASEL: MDPI. ISSN 2073-4425

2020

Bamborschke, Daniel, Daimagueler, Huelya-Sevcan, Hahn, Andreas, Hussain, Muhammad S., Nuernberg, Peter and Cirak, Sebahattin (2020). Mutation inCEP135causing primary microcephaly and subcortical heterotopia. Am. J. Med. Genet. A, 182 (10). S. 2450 - 2454. HOBOKEN: WILEY. ISSN 1552-4833

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

Hanzlikova, Hana ORCID: 0000-0001-7235-7269, Prokhorova, Evgeniia ORCID: 0000-0002-5467-5586, Krejcikova, Katerina, Cihlarova, Zuzana, Kalasova, Ilona, Kubovciak, Jan, Sachova, Jana ORCID: 0000-0003-1176-6127, Hailstone, Richard, Brazina, Jan, Ghosh, Shereen, Cirak, Sebahattin, Gleeson, Joseph G., Ahel, Ivan and Caldecott, Keith W. (2020). Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair. Nat. Commun., 11 (1). LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin (2020). The genomic and clinical landscape of fetal akinesia. Genet. Med., 22 (3). S. 511 - 524. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Spitali, Pietro ORCID: 0000-0003-2783-688X, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca ORCID: 0000-0002-3075-6525, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula and Duong, Tina (2020). TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur. J. Hum. Genet., 28 (6). S. 815 - 826. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

2019

Bamborschke, Daniel, Pergande, Matthias, Daimagueler, Huelya Sevcan, Mangold, Elisabeth, Doetsch, Joerg, Herkenrath, Peter, Cirak, Sebahattin and Fazeli, Walid (2019). Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. Neuropediatrics, 50 (6). S. 378 - 382. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Bender, Daniel ORCID: 0000-0002-2975-4186, Kaczmarek, Alexander Tobias, Santamaria-Araujo, Jose Angel, Stueve, Burkard, Waltz, Stephan, Bartsch, Deniz, Kurian, Leo, Cirak, Sebahattin and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2019). Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency. Hum. Mol. Genet., 28 (17). S. 2885 - 2900. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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, 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

Haworth, Simon ORCID: 0000-0001-7793-7326, Shapland, Chin Yang, Hayward, Caroline ORCID: 0000-0002-9405-9550, Prins, Bram P., Felix, Janine F., Medina-Gomez, Carolina ORCID: 0000-0001-7999-5538, Rivadeneira, Fernando ORCID: 0000-0001-9435-9441, Wang, Carol, Ahluwalia, Tarunveer S., Vrijheid, Martine ORCID: 0000-0002-7090-1758, Guxens, Monica, Sunyer, Jordi ORCID: 0000-0002-2602-4110, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew ORCID: 0000-0002-8739-2646, Cleal, Louise, Huffmann, Jennifer, Min, Josine L., Sass, Laerke ORCID: 0000-0002-5217-7014, Timmers, Paul R. H. J., Al Turki, Saeed, Anderson, Carl A., Anney, Richard, Antony, Dinu, Artigas, Maria Soler, Ayub, Muhammad, Bala, Senduran, Barrett, Jeffrey C., Barroso, Ines, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo ORCID: 0000-0002-5571-0478, Birney, Ewan ORCID: 0000-0001-8314-8497, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick F., Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Charlton, Ruth, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebahattin, Clapham, Peter, Clement, Gail, Coates, Guy, Cocca, Massimiliano, Collier, David A., Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Danecek, Petr, Day, Ian N. M., Day-Williams, Aaron, Dominiczak, Anna, Down, Thomas, Du, Yuanping, Dunham, Ian ORCID: 0000-0003-2525-5598, Durbin, Richard ORCID: 0000-0002-9130-1006, Edkins, Sarah, Ekong, Rosemary ORCID: 0000-0002-5984-7893, Ellis, Peter, Evans, David M., Farooqi, I. Sadaf, Fitzpatrick, David R., Flicek, Paul, Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise ORCID: 0000-0001-9462-2836, Gaunt, Tom R., Geihs, Matthias, Geschwind, Daniel, Greenwood, Celia M. T., Griffin, Heather, Grozeva, Detelina, Guo, Xiaosen, Guo, Xueqin, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey E., Holmans, Peter, Howie, Bryan, Huang, Jie, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hurles, Matthew E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda ORCID: 0000-0003-0151-6482, Joyce, Chris, Karczewski, Konrad J., Kaye, Jane ORCID: 0000-0002-7311-4725, Keane, Thomas, Kemp, John P., Kennedy, Karen, Kent, Alastair, Keogh, Julia, Khawaja, Farrah, van Kogelenberg, Margriet, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel ORCID: 0000-0002-5311-6213, Lee, Irene, Lek, Monkol, Li, Rui, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Lonnqvist, Jouko, Lopes, Luis R., Lopes, Margarida, MacArthur, Daniel G., Mangino, Massimo, Marchini, Jonathan, Marenne, Gaelle, Maslen, John, Mathieson, Iain, McCarthy, Shane, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew ORCID: 0000-0003-1567-2240, Memari, Yasin, Metrustry, Sarah, Migone, Nicola, Mitchison, Hannah M., Moayyeri, Alireza, Morris, Andrew, Morris, James, Muddyman, Dawn, Muntoni, Francesco, Northstone, Kate ORCID: 0000-0002-0602-1983, O'Donovan, Michael C., O'Rahilly, Stephen, Onoufriadis, Alexandros, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Payne, Stewart J., Perry, John R. B., Pietilainen, Olli, Plagnol, Vincent, Pollitt, Rebecca C., Porteous, David J., Povey, Sue, Quail, Michael A., Quaye, Lydia, Raymond, F. Lucy, Rehnstrom, Karola, Richards, J. Brent, Ridout, Cheryl K., Ring, Susan, Ritchie, Graham R. S., Roberts, Nicola, Robinson, Rachel L., Savage, David B., Scambler, Peter, Schiffels, Stephan, Schmidts, Miriam ORCID: 0000-0002-1714-6749, Schoenmakers, Nadia, Scott, Richard H., Semple, Robert K., Serra, Eva, Sharp, Sally I., Shaw, Adam, Shihab, Hashem A., Shin, So-Youn, Skuse, David, Small, Kerrin S., Smee, Carol, Smith, Blair H., Soranzo, Nicole, Southam, Lorraine, Spasic-Boskovic, Olivera, Spector, Timothy D., St Clair, David, Stalker, Jim, Stevens, Elizabeth, Sun, Jianping, Surdulescu, Gabriela, Suvisaari, Jaana, Syrris, Petros, Taylor, Rohan, Tian, Jing, Tobin, Martin D., Valdes, Ana M., Vandersteen, Anthony M., Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walters, James T. R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Eleanor, Whyte, Tamieka, Williams, Hywel J., Williamson, Kathleen A., Wilson, Crispian, Wilson, Scott G., Wong, Kim, Xu, ChangJiang, Yang, Jian, Zhang, Feng, Zhang, Pingbo, Zheng, Hou-Feng, Smith, George Davey ORCID: 0000-0002-1407-8314, Fisher, Simon E. ORCID: 0000-0002-3132-1996, Wilson, James F., Cole, Tim J., Fernandez-Orth, Dietmar, Bonnelykke, Klaus, Bisgaard, Hans ORCID: 0000-0003-4131-7592, Pennell, Craig E., Jaddoe, Vincent W. V., Dedoussis, George, Timpson, Nicholas ORCID: 0000-0002-7141-9189, Zeggini, Eleftheria, Vitart, Veronique and St Pourcain, Beate ORCID: 0000-0002-4680-3517 (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Kuehne, Benjamin, Heine, Eva, Dafsari, Hormos Salimi, Irvvin, Raphael, Heller, Raoul, Bangen, Ursula, Brockmeier, Konrad, Kribs, Angela, Oberthuer, Andre and Cirak, Sebahattin (2019). Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features. Mol. Cell. Probes, 45. S. 89 - 94. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

Okur, Derya, Daimaguler, Hulya Sevcan, Danyeli, Ayca Ersen, Tekgul, Hasan, Wang, Haicui, Wunderlich, Gilbert, Cirak, Sebahattin and Yis, Uluc (2019). Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia. Turk. J. Pediatr., 61 (6). S. 931 - 937. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

Rehorst, Wiebke A., Thelen, Maximilian P., Nolte, Hendrik, Tuerk, Clara, Cirak, Sebahattin, Peterson, Jonathan M., Wong, G. William, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Krueger, Marcus ORCID: 0000-0003-2008-4582, Winter, Dominic and Kye, Min Jeong ORCID: 0000-0002-1323-7256 (2019). Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy. Acta Neuropathol. Commun., 7 (1). LONDON: BMC. ISSN 2051-5960

Romeike, Bernd F. M., Becker, Kerstin, Grosskreutz, Julian ORCID: 0000-0001-9525-1424, Schulz, Solveig, Weis, Joachim and Cirak, Sebahattin (2019). A family with limb girdle muscular dystrophy type 1B and multiple exostoses. Clin. Neuropathol., 38 (5). S. 225 - 233. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0722-5091

Sprute, Rosanne ORCID: 0000-0003-2457-6437, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagueler, Hulya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral and Cirak, Sebahattin (2019). Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature. Hum. Genom. Var., 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2054-345X

Wang, Haicui, Bayram, Ayse Kacar, Sprute, Rosaenn, Ozdemir, Ozkan, Cooper, Emily, Pergande, Matthias, Efthymiou, Stephanie, Nedic, Ivana, Mazaheri, Neda, Stumpfe, Katharina, Malamiri, Reza Azizi, Shariati, Gholamreza, Zeighami, Jawaher, Bayram, Nurettin, Naghibzadeh, Seyed Kianoosh, Tajik, Mohamad, Yasar, Mehmet, Guven, Ahmet Sami, Bibi, Farah, Sultan, Tipu, Salpietro, Vincenzo, Houlden, Henry, Per, Huseyin, Galehdari, Hamid, Shalbafan, Bita, Jamshidi, Yalda ORCID: 0000-0003-0151-6482 and Cirak, Sebahattin (2019). Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. Front. Neurosci., 13. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-453X

Yang, Yongjie, van der Klaauw, Agatha A., Zhu, Liangru, Cacciottolo, Tessa M., He, Yanlin ORCID: 0000-0002-5471-9016, Stadler, Lukas K. J., Wang, Chunmei, Xu, Pingwen, Saito, Kenji, Hinton, Antentor, Yan, Xiaofeng, Keogh, Julia M., Henning, Elana, Banton, Matthew C., Hendricks, Audrey E., Bochukova, Elena G., Mistry, Vanisha, Lawler, Katherine L., Liao, Lan, Xu, Jianming, O'Rahilly, Stephen, Tong, Qingchun ORCID: 0000-0002-4561-2540, Barroso, Ines, O'Malley, Bert W., Farooqi, I. Sadaf, Xu, Yong, Balasubramanian, Senduran, Clapham, Peter, Coates, Guy, Cox, Tony, Daly, Allan, Danecek, Petr, Du, Yuanping, Durbin, Richard, Edkins, Sarah, Ellis, Peter, Flicek, Paul, Guo, Xiaosen, Guo, Xueqin, Huang, Liren, Jackson, David K., Joyce, Chris, Keane, Thomas, Kolb-Kokocinski, Anja, Langford, Cordelia, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Maslen, John, McCarthy, Shane, Muddyman, Dawn, Quail, Michael A., Stalker, Jim, Sun, Jianping, Tian, Jing, Wang, Guangbiao, Wang, Jun, Wang, Yu, Wong, Kim, Zhang, Pingbo, Birney, Ewan, Boustred, Chris, Brion, Marie-Jo, Chen, Lu, Clement, Gail, Danecek, Petr, Smith, George Davey ORCID: 0000-0002-1407-8314, Day, Ian N. M., Day-Williams, Aaron, Down, Thomas, Dunham, Ian, Durbin, Richard, Evans, David M., Fatemifar, Ghazaleh, Gaunt, Tom R., Geihs, Matthias, Greenwood, Celia M. T., Hart, Deborah, Howie, Bryan, Huang, Jie, Hubbard, Tim, Hysi, Pirro, Iotchkova, Valentina, Jamshidi, Yalda ORCID: 0000-0003-0151-6482, Kemp, John P., Lachance, Genevieve, Lawson, Daniel, Lek, Monkol, Lopes, Margarida, MacArthur, Daniel G., Marchini, Jonathan, Massimo, Mangino, Mathieson, Iain, McCarthy, Shane, Memari, Yasin, Metrustry, Sarah, Min, Josine L., Moayyeri, Alireza, Muddyman, Dawn, Northstone, Kate, Panoutsopoulou, Kalliope, Paternoster, Lavinia, Perry, John R. B., Quaye, Lydia, Richards, J. Brent, Ring, Susan, Ritchie, Graham R. S., Schiffels, Stephan, Shihab, Hashem A., Shin, So-Youn, Small, Kerrin S., Artigas, Maria Soler, Soranzo, Nicole, Southam, Lorraine, Spector, Timothy D., St Pourcain, Beate, Surdulescu, Gabriela, Tachmazidou, Ioanna, Timpson, Nicholas J., Tobin, Martin D., Valdes, Ana M., Visscher, Peter M., Wain, Louise V., Walter, Klaudia, Ward, Kirsten, Wilson, Scott G., Wong, Kim, Yang, Jian, Zeggini, Eleftheria, Zhang, Feng, Zheng, Hou-Feng, Anney, Richard, Ayub, Muhammad, Barrett, Jeffrey C., Blackwood, Douglas, Bolton, Patrick F., Breen, Gerome, Collier, David A., Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Durbin, Richard, Gallagher, Louise, Geschwind, Daniel, Gurling, Hugh, Holmans, Peter, Lee, Irene, Lonnqvist, Jouko, McCarthy, Shane, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew ORCID: 0000-0003-1567-2240, Morris, James, Muddyman, Dawn, O'Donovan, Michael C., Owen, Michael J., Palotie, Aarno, Parr, Jeremy R., Paunio, Tiina, Pietilainen, Olli, Rehnstrom, Karola, Sharp, Sally I., Skuse, David, St Clair, David, Suvisaari, Jaana, Walters, James T. R., Williams, Hywel J., Bochukova, Elena ORCID: 0000-0003-0275-1548, Bounds, Rebecca, Dominiczak, Anna, Durbin, Richard, Keogh, Julia, Marenne, Gaelle, McCarthy, Shane, Morris, Andrew, Muddyman, Dawn, Porteous, David J., Smith, Blair H., Tachmazidou, Ioanna, Wheeler, Eleanor, Zeggini, Eleftheria, Al Turki, Saeed, Anderson, Carl A., Antony, Dinu, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Durbin, Richard, Fitzpatrick, David R., Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Grozeva, Detelina, Humphries, Steve E., Hurles, Matthew E., McCarthy, Shane, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, F. Lucy, Roberts, Nicola, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Spasic-Boskovic, Olivera, Stevens, Elizabeth, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Williamson, Kathleen A., Wilson, Crispian, Whyte, Tamieka, Ciampi, Antonio, Greenwood, Celia M. T., Li, Rui, Metrustry, Sarah, Oualkacha, Karim, Tachmazidou, Ioanna, Xu, ChangJiang, Zeggini, Eleftheria, Bobrow, Martin, Bolton, Patrick F., Durbin, Richard, Fitzpatrick, David R., Griffin, Heather, Hurles, Matthew E., Kaye, Jane, Kennedy, Karen, Kent, Alastair, Muddyman, Dawn, Muntoni, Francesco, Raymond, F. Lucy, Semple, Robert K., Smee, Carol, Spector, Timothy D., Timpson, Nicholas J., Charlton, Ruth, Ekong, Rosemary, Futema, Marta, Humphries, Steve E., Khawaja, Farrah, Lopes, Luis R., Migone, Nicola, Payne, Stewart J., Plagnol, Vincent, Pollitt, Rebecca C., Povey, Sue, Ridout, Cheryl K., Robinson, Rachel L., Scott, Richard H., Shaw, Adam, Syrris, Petros, Taylor, Rohan, Vandersteen, Anthony M., Barrett, Jeffrey C., Smith, George Davey ORCID: 0000-0002-1407-8314, Durbin, Richard, Fitzpatrick, David R., Hurles, Matthew E., Kaye, Jane, Kennedy, Karen, Langford, Cordelia, McCarthy, Shane, Muddyman, Dawn, Owen, Michael J., Palotie, Aarno, Richards, J. Brent, Soranzo, Nicole, Spector, Timothy D., Stalker, Jim, Timpson, Nicholas J., Zeggini, Eleftheria, Amuzu, Antoinette, Casas, Juan Pablo, Chambers, John C., Cocca, Massimiliano, Dedoussis, George, Gambaro, Giovanni, Gasparini, Paolo, Gaunt, Tom R., Huang, Jie, Iotchkova, Valentina, Isaacs, Aaron, Johnson, Jon, Kleber, Marcus E., Kooner, Jaspal S., Langenberg, Claudia, Luan, Jian'an, Malerba, Giovanni, Marz, Winfried, Matchan, Angela, Min, Josine L., Morris, Richard, Nordestgaard, Borge G., Benn, Marianne, Ring, Susan, Scott, Robert A., Soranzo, Nicole, Southam, Lorraine, Timpson, Nicholas J., Toniolo, Daniela ORCID: 0000-0001-9545-6032, Traglia, Michela, Tybjaerg-Hansen, Anne, van Duijn, Cornelia M., van Leeuwen, Elisabeth M., Varbo, Anette, Whincup, Peter, Zaza, Gianluigi, Zeggini, Eleftheria and Zhang, Weihua (2019). Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

2018

Akpulat, Ugur, Wang, Haicui, Becker, Kerstin, Contreras, Adriana, Partridge, Terence A., Novak, James S. and Cirak, Sebahattin (2018). Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD. Mol. Ther.-Nucl. Acids, 13. S. 534 - 543. CAMBRIDGE: CELL PRESS. ISSN 2162-2531

Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2018). Late diagnosis of a truncating W1SP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. Cold Spring Harb. Mol. Case Stud., 4 (1). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T. and Cirak, Sebahattin (2018). A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev., 40 (6). S. 480 - 484. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

Broekaert, Ilse Julia, Becker, Kerstin, Gottschalk, Ingo, Koerber, Friederike, Doetsch, Joerg, Thiele, Holer, Altmueller, Janine, Nuernberg, Peter, Huenseler, Christoph and Cirak, Sebahattin (2018). Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J. Med. Genet., 55 (9). S. 637 - 641. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Koerber, Friederike, Stueve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline ORCID: 0000-0003-1272-0518, Maarouf, Mohammad, Coubes, Philippe and Cif, Laura (2018). Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J. Neurol. Sci., 391. S. 31 - 40. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1878-5883

Novak, James S., Hogarth, Marshall W., Boehler, Jessica F., Nearing, Marie, Vila, Maria C., Heredia, Raul, Fiorillo, Alyson A., Zhang, Aiping, Hathout, Yetrib, Hoffman, Eric P., Jaiswal, Jyoti K., Nagaraju, Kanneboyina, Cirak, Sebahattin and Partridge, Terence A. (2018). Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle (vol 8, 2017). Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Novak, James S., Hogarth, Marshall W., Boehler, Jessica F., Nearing, Marie, Vila, Maria C., Heredia, Raul, Fiorillo, Alyson A., Zhang, Aiping, Hathout, Yetrib, Hoffman, Eric P., Jaiswal, Jyoti K., Nagaraju, Kanneboyina, Cirak, Sebahattin and Partridge, Terence A. (2018). Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle (vol 8, 941, 2017). Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Shamseldin, Hanan E., Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal ORCID: 0000-0002-9668-7809, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa and Alkuraya, Fowzan S. (2018). Molecular autopsy in maternal-fetal medicine. Genet. Med., 20 (4). S. 420 - 428. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Ullmann, Urielle, D'Argenzio, Luigi ORCID: 0000-0003-4001-2914, Mathur, Shrey, Whyte, Tamieka, Quinlivan, Ros, Longman, Cheryl, Farrugia, Maria Elena, Manzur, Adnan, Willis, Tracey, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Pitt, Matthew, Cirak, Sebahattin, Feng, Lucy, Stewart, William, Mein, Rachael, Phadke, Rahul, Sewry, Caroline, Sarkozy, Anna and Muntoni, Francesco (2018). ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects. Neuromusc. Disord., 28 (9). S. 741 - 750. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Wang, Haicui, Schaenzer, Anne, Kampschulte, Birgit, Daimagueler, Huelya-Sevcan, Logeswaran, Thushiha, Schlierbach, Hannah, Petzinger, Jutta, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Hahn, Andreas and Cirak, Sebahattin (2018). A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. Acta Neuropathol. Commun., 6. LONDON: BMC. ISSN 2051-5960

Yis, Uluc, Becker, Kerstin and Cirak, Sebahattin (2018). A boy with neck weakness. Neuromusc. Disord., 28 (3). S. 236 - 238. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Yis, Uluc, Becker, Kerstin, Yilmaz, Sebnem and Cirak, Sebahattin (2018). Acanthocytosis and HyperCKemia. Turk. J. Hematol., 35 (4). S. 296 - 298. FINDIKZADE: GALENOS YAYINCILIK. ISSN 1308-5263

2017

Ardicli, Didem, Gocmen, Rahsan, Talim, Beril, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Haliloglu, Goknur, Cirak, Sebahattin and Topaloglu, Haluk (2017). Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation. Neuromusc. Disord., 27 (3). S. 239 - 243. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Kucuksahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nurnberg, Peter, Aydingoz, Ustun ORCID: 0000-0002-4325-847X, Topaloglu, Haluk and Cirak, Sebahattin (2017). Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J. Hum. Genet., 62 (4). S. 497 - 502. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Karaoglu, Pakize, Quizon, Nicolas, Pergande, Matthias, Wang, Haicui, Polat, Ayse Ipek, Ersen, Ayca, Ozer, Erdener, Willkomm, Lena, Kurul, Semra Hiz, Heredia, Raul, Yis, Uluc, Selcen, Duygu and Cirak, Sebahattin (2017). Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Brain Dev., 39 (4). S. 361 - 365. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

Novak, James, Hogarth, Marshall, Boehler, Jessica, Nearing, Marie, Vila, Maria, Hoffman, Eric, Jaiswal, Jyoti, Nagaraju, Kanneboyina, Cirak, Sebahattin and Partridge, Terence (2017). The Essential Role of Satellite Cells and Macrophages in Efficient Delivery of Antisense Morpholinos into Dystrophic Muscle Fibers. Mol. Ther., 25 (5). S. 122 - 124. CAMBRIDGE: CELL PRESS. ISSN 1525-0024

Novak, James S., Hogarth, Marshall W., Boehler, Jessica F., Nearing, Marie ORCID: 0000-0002-5261-4544, Vila, Maria C., Heredia, Raul, Fiorillo, Alyson A., Zhang, Aiping, Hathout, Yetrib, Hoffman, Eric P., Jaiswal, Jyoti K., Nagaraju, Kanneboyina, Cirak, Sebahattin and Partridge, Terence A. (2017). Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Wang, Haicui, Castiglioni, Claudia ORCID: 0000-0002-1981-7550, Bayram, Ayse Kacar, Fattori, Fabiana ORCID: 0000-0002-1820-8489, Pekuz, Serdar, Araneda, Diego, Per, Huseyin, Erazo, Ricardo, Gumus, Hakan, Zorludemir, Suzan, Becker, Kerstin, Ortega, Ximena, Alfredo Bevilacqua, Jorge, Bertini, Enrico ORCID: 0000-0001-9276-4590 and Cirak, Sebahattin (2017). Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. Neuromusc. Disord., 27 (9). S. 836 - 843. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Wang, Haicui, Salter, Claire G., Refai, Osama ORCID: 0000-0002-5870-5236, Hardy, Holly, Barwick, Katy E. S., Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A., Harlalka, Gaurav, Taylan, Fulya ORCID: 0000-0002-2907-0235, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H., Karakaya, Mert, Stueve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A., Abdul-Rahman, Omar A., Chilton, John, Blakely, Randy D., Baple, Emma L., Cirak, Sebahattin and Crosby, Andrew H. (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140. S. 2838 - 2851. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Yis, Uluc, Becker, Kerstin, Kurul, Semra Hiz, Uyanik, Goekhan, Bayram, Erhan, Haliloglu, Goknur, Polat, Ayse Ipek, Ayanoglu, Muge, Okur, Derya, Tosun, Ayse Fahriye, Serdaroglu, Gul, Yilmaz, Sanem, Topaloglu, Haluk, Anlar, Banu, Cirak, Sebahattin and Engel, Andrew G. (2017). Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights. J. Child Neurol., 32 (8). S. 759 - 766. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1708-8283

Yis, Uluc, Dixit, Vishal, Isikay, Sedat, Karakaya, Mert, Baydan, Figen, Diniz, Gulden, Polat, Ipek, Hiz-Kurul, Semra and Cirak, Sebahattin (2017). Occipital cortex dysgenesis with white matter changes due to mutations in Laminin alpha 2. Turk. J. Pediatr., 59 (3). S. 338 - 342. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

2016

Bello, Luca ORCID: 0000-0002-3075-6525, Morgenroth, Lauren P., Gordish-Dressman, Heather, Hoffman, Eric P., McDonald, Craig M. and Cirak, Sebahattin (2016). DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study. Neurology, 87 (4). S. 401 - 410. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hoelker, Irmgard, Hebbar, Malavika, Shulda, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O'Driscoll, Mary, Loeys, Bart ORCID: 0000-0003-3703-9518 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2016). Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. Am. J. Hum. Genet., 99 (5). S. 1206 - 1217. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Durmus, Hacer, Ayhan, Ozgecan, Cirak, Sebahattin, Deymeer, Feza, Parman, Yesim, Franke, Andre ORCID: 0000-0003-1530-5811, Eiber, Nane, Chevessier, Frederic, Schloetzer-Schrehardt, Ursula, Clemen, Christoph S., Hashemolhosseini, Said ORCID: 0000-0002-6564-5649, Schroeder, Rolf, Hemmrich-Stanisak, Georg, Tolun, Aslihan ORCID: 0000-0002-0328-6046 and Serdaroglu-Oflazer, Piraye (2016). Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Neurology, 87 (8). S. 799 - 806. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique ORCID: 0000-0002-9696-4562, Timal, Sharita, Reunert, Janine, Rust, Stephan, Perez, Belen, Vicogne, Dorothee, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel ORCID: 0000-0001-9679-7955, Perez-Cerda, Celia, Medrano, Celia ORCID: 0000-0001-9634-7874, Arnoldy, Andrea, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce ORCID: 0000-0001-9989-9236, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A. W., Holleboom, Adriaan G., Nassogne, Marie-Cecile ORCID: 0000-0001-6936-1611, Sokal, Etienne ORCID: 0000-0001-5597-4708, Salomon, Jody, van den Bogaart, Geert ORCID: 0000-0003-2180-6735, Drenth, Joost P. H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert ORCID: 0000-0001-6710-1912, Foulquier, Francois, Marquardt, Thorsten and Lefeber, Dirk J. (2016). CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am. J. Hum. Genet., 98 (2). S. 310 - 322. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Karakaya, Mert, Heller, Raoul, Kunde, Volkmar, Zimmer, Klaus-Peter, Chao, Cho-Ming, Nuernberg, Peter and Cirak, Sebahattin (2016). Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. Neuropediatrics, 47 (4). S. 273 - 278. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Novak, James S., Nearing, Marie, Hogarth, Marshall W., Vila, Maria C., Boehler, Jessica F., Hoffman, Eric P., Nagaraju, Kanneboyina, Cirak, Sebahattin and Partridge, Terence A. (2016). Myoblast Fusion Mediates Morpholino Entry and Exon Skipping In Dystrophic Muscle. Mol. Ther., 24. S. S232 - 1. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1525-0024

Richard, Isabelle, Laurent, Jean-Pierre, Cirak, Sebahattin and Vissing, John (2016). 216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands. Neuromusc. Disord., 26 (10). S. 717 - 725. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Willkomm, Lena, Heredia, Raul, Hoffmann, Katrin, Wang, Haicui, Voit, Thomas, Hoffman, Eric P. and Cirak, Sebahattin (2016). Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. J. Hum. Genet., 61 (6). S. 571 - 574. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Yis, Uluc, Baydan, Figen, Karakaya, Mert, Kurul, Semra Hiz and Cirak, Sebahattin (2016). Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. Biomed Res. Int., 2016. LONDON: HINDAWI LTD. ISSN 2314-6141

2015

Chamova, Teodora, Guergueltcheva, Velina, Gospodinova, Mariana, Krause, Sabine ORCID: 0000-0002-3141-886X, Cirak, Sebahattin, Kaprelyan, Ara, Angelova, Lyudmila, Mihaylova, Violeta, Bichev, Stoyan, Chandler, David, Naydenov, Emanuil, Grudkova, Margarita, Djukmedzhiev, Presian, Voit, Thomas, Pogoryelova, Oksana, Lochmueller, Hanns, Goebel, Hans H., Bahlo, Melanie ORCID: 0000-0001-5132-0774, Kalaydjieva, Luba and Tournev, Ivailo (2015). GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromusc. Disord., 25 (9). S. 713 - 719. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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