Universität zu Köln

Journal Article

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, 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

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

Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad ORCID: 0000-0001-6127-6308, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Boerger, Doris, Bohring, Axel, Schreml, Julia, Koertge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah ORCID: 0000-0002-0668-1762, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nuernberg, Gudrun, Nuernburg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit and Bolz, Hanno J. (2013). Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies. PLoS One, 8 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Fazeli, Walid, Herkenrath, Peter, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nuernberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmueller, Janine, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Heller, Raoul (2017). A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Hum. Mol. Genet., 26 (20). S. 4055 - 4067. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Hecker, Eva, Baer, Gillian D., Stark, Christina ORCID: 0000-0003-4247-0679, Herkenrath, Peter and Hadders-Algra, Mijna ORCID: 0000-0001-6845-5114 (2016). Inter- and Intrarater Reliability of the Infant Motor Profile in 3-to 18-Month-Old Infants. Pediatr. Phys. Ther., 28 (2). S. 217 - 223. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1538-005X

Martakis, Kyriakos ORCID: 0000-0003-3982-0914, Huenseler, Christoph, Herkenrath, Peter, Thangavelu, Kruthika, Kribs, Angela and Roth, Bernhard (2017). The flexion withdrawal reflex increases in premature infants at 22-26 weeks of gestation due to changes in spinal cord excitability. Acta Paediatr., 106 (7). S. 1079 - 1085. HOBOKEN: WILEY. ISSN 1651-2227

Riehmer, Vera, Erger, Florian ORCID: 0000-0002-2768-1702, Herkenrath, Peter, Seland, Saskia, Jackels, Miriam, Wiater, Alfred, Heller, Raoul, Beck, Bodo B. and Netzer, Christian (2017). A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. Am. J. Med. Genet. A, 173 (8). S. 2132 - 2139. HOBOKEN: WILEY. ISSN 1552-4833

Volk, Alexander E., Hedergott, Andrea ORCID: 0000-0002-6398-3919, Preising, Markus, Rading, Sebastian, Fricke, Julia, Herkenrath, Peter, Nurnberg, Peter, Altmueller, Janine, von Ameln, Simon, Lorenz, Birgit, Neugebauer, Antje, Karsak, Meliha and Kubisch, Christian (2021). Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism. Hum. Genet., 140 (8). S. 1157 - 1169. NEW YORK: SPRINGER. ISSN 1432-1203

Weisshaar, Guido F., Hoemberg, Marc, Bender, Katja, Bangen, Ursula, Herkenrath, Peter, Eifinger, Frank ORCID: 0000-0003-1758-6039, Rothschild, Markus, Roth, Bernhard and Oberthuer, Andre (2012). Baclofen intoxication: a fun drug causing deep coma and nonconvulsive status epilepticus-a case report and review of the literature. Eur. J. Pediatr., 171 (10). S. 1541 - 1548. NEW YORK: SPRINGER. ISSN 0340-6199