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Journal Article
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
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
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
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