Universität zu Köln

Journal Article

Al-Emran, Hassan M., Hahn, Andreas ORCID: 0000-0002-5157-8369, Baum, Jana, Espinoza, Ligia Maria Cruz, Deerin, Jessica, Im, Justin, Ibrango, Samuel, Kabore, Leon Parfait, von Kalckreuth, Vera, Konings, Frank, Marks, Florian ORCID: 0000-0002-6043-7170, Sampo, Emmanuel, Panzner, Ursula, Park, Se Eun, Pak, Gi Deok, Schuett-Gerowitt, Heidi, Vinnemeier, Christof David, Warren, Michelle and Soura, Abdramane Bassiahi (2016). Diagnosing Salmonella enterica Serovar Typhi Infections by Polymerase Chain Reaction Using EDTA Blood Samples of Febrile Patients From Burkina Faso. Clin. Infect. Dis., 62. S. S37 - 5. CARY: OXFORD UNIV PRESS INC. ISSN 1537-6591

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

Blohm, Martin, Hahn, Andreas ORCID: 0000-0002-5157-8369, Hagen, Ralf Matthias ORCID: 0000-0003-4875-1519, Eberhardt, Kirsten Alexandra, Rohde, Holger, Leboulle, Gerard, Feldt, Torsten, Sarfo, Fred Stephen, Di Cristanziano, Veronica, Frickmann, Hagen and Loderstaedt, Ulrike (2021). Comparison of Two Real-Time PCR Assays Targeting Ribosomal Sequences for the Identification of Cystoisospora belli in Human Stool Samples. Pathogens, 10 (8). BASEL: MDPI. ISSN 2076-0817

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

Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J., Schuierer, Gerhard and Hehr, Ute (2016). LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev., 38 (4). S. 399 - 407. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Kamrath, Clemens, Schaenzer, Anne, Sander, Thomas, Hahn, Andreas and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One, 11 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Reinthaler, Eva M., Altmueller, Janine, Toliat, Mohammad R., Thiele, Holger, Nuernberg, Peter, Lerche, Holger, Hahn, Andreas, Moller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2013). RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy. PLoS One, 8 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Reinthaler, Eva M., Dejanovici, Borislav, May, Patrick ORCID: 0000-0001-8698-3770, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Gunter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico ORCID: 0000-0001-9744-5222, Hahn, Andreas, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Krause, Roland ORCID: 0000-0001-9938-7126, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Lemke, Johannes R., Nuernberg, Peter, Sander, Thomas, Lerche, Holger and Neubauer, Bernd A. (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One, 11 (3). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Baeumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmueller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2014). DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood. Ann. Neurol., 75 (5). S. 788 - 793. HOBOKEN: WILEY-BLACKWELL. ISSN 1531-8249

Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Hoehne, Wolfgang, Noegel, Angelika Anna, Al-Owain, Mohammed, Hoertnagel, Konstanze, Stoebe, Petra, Baig, Shahid Mahmood, Nuernberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2017). Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann. Neurol., 82 (4). S. 562 - 578. HOBOKEN: WILEY. ISSN 1531-8249

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

Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A. and Zimprich, Fritz ORCID: 0000-0002-6998-5480 (2014). Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia, 55 (8). S. E89 - 5. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan ORCID: 0000-0002-2786-8200, Gieger, Christian ORCID: 0000-0001-6986-9554, Waldenberger, Melanie ORCID: 0000-0003-0583-5093, Franke, Andre ORCID: 0000-0003-1530-5811, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum. Mol. Genet., 23 (22). S. 6069 - 6081. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Tanida, Konstantin, Hahn, Andreas ORCID: 0000-0002-5157-8369, Eberhardt, Kirsten Alexandra, Tannich, Egbert ORCID: 0000-0002-4714-7275, Landt, Olfert, Kann, Simone, Feldt, Torsten, Sarfo, Fred Stephen, Di Cristanziano, Veronica, Frickmann, Hagen and Loderstaedt, Ulrike (2021). Comparative Assessment of In-House Real-Time PCRs Targeting Enteric Disease-Associated Microsporidia in Human Stool Samples. Pathogens, 10 (6). BASEL: MDPI. ISSN 2076-0817

Tanida, Konstantin, Hahn, Andreas ORCID: 0000-0002-5157-8369, Eberhardt, Kirsten Alexandra, Tannich, Egbert ORCID: 0000-0002-4714-7275, Landt, Olfert, Kann, Simone, Feldt, Torsten, Sarfo, Fred Stephen, Di Cristanziano, Veronica, Frickmann, Hagen and Loderstaedt, Ulrike (2022). Comparative Assessment of In-House Real-Time PCRs Targeting Enteric Disease-Associated Microsporidia in Human Stool Samples (vol 10, 656, 2021). Pathogens, 11 (2). BASEL: MDPI. ISSN 2076-0817

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

Weinreich, Felix, Hahn, Andreas ORCID: 0000-0002-5157-8369, Eberhardt, Kirsten Alexandra, Feldt, Torsten, Sarfo, Fred Stephen, Di Cristanziano, Veronica, Frickmann, Hagen and Loderstaedt, Ulrike (2021). Comparison of Three Real-Time PCR Assays Targeting the SSU rRNA Gene, the COWP Gene and the DnaJ-Like Protein Gene for the Diagnosis of Cryptosporidium spp. in Stool Samples. Pathogens, 10 (9). BASEL: MDPI. ISSN 2076-0817

Weinreich, Felix, Hahn, Andreas ORCID: 0000-0002-5157-8369, Eberhardt, Kirsten Alexandra, Feldt, Torsten, Sarfo, Fred Stephen, Di Cristanziano, Veronica, Frickmann, Hagen and Loderstaedt, Ulrike (2022). Comparison of Three Real-Time PCR Assays for the Detection of Cyclospora cayetanensis in Stool Samples Targeting the 18S rRNA Gene and the hsp70 Gene. Pathogens, 11 (2). BASEL: MDPI. ISSN 2076-0817

Weinreich, Felix, Hahn, Andreas ORCID: 0000-0002-5157-8369, Eberhardt, Kirsten Alexandra, Kann, Simone, Feldt, Torsten, Sarfo, Fred Stephen, Di Cristanziano, Veronica, Frickmann, Hagen and Loderstaedt, Ulrike (2022). Comparative Evaluation of Real-Time Screening PCR Assays for Giardia duodenalis and of Assays Discriminating the Assemblages A and B. Microorganisms, 10 (7). BASEL: MDPI. ISSN 2076-2607