Universität zu Köln

Journal Article

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

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

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

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

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

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

Bayram, Nurettin ORCID: 0000-0003-3244-7328, Kacar Bayram, Ayse, Daimagueler, Hulya-Sevcan, Salimi Dafsari, Hormos ORCID: 0000-0003-3483-5009, Bamborschke, Daniel, Uyanik, Gokhan, Erdogan, Murat, Ozsaygili, Cemal, Pangal, Emine, Yuvaci, Isa, Doganay, Selim, Gumus, Hakan, Per, Huseyin, Jungbluth, Heinz and Cirak, Sebahattin . Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjogren syndrome: Case report and literature review. Eur. J. Ophthalmol.. LONDON: SAGE PUBLICATIONS LTD. ISSN 1724-6016

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

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

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

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

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

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, 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

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

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

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

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

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

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

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

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

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

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

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

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

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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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. 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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

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

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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

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

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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

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

Sprute, Rosanne, Jergas, Hannah, Oelmez, Akguen, Alawbathani, Salem, Karasoy, Hatice, Dafsari, Hormos Salimi, Becker, Kerstin, Daimagueeler, Huelya-Sevcan, Nuernberg, Peter, Muntoni, Francesco, Topaloglu, Haluk, Uyanik, Goekhan and Cirak, Sebahattin . Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. Am. J. Med. Genet. A. HOBOKEN: WILEY. ISSN 1552-4833

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