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

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

Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre ORCID: 0000-0003-1530-5811, Gieger, Christian ORCID: 0000-0001-6986-9554, Strauch, Konstantin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter and Hennies, Hans Christian (2016). Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

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

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

Heger, Jan-Michel, Mattlener, Julia, Godel, Philipp, Balke-Want, Hyatt, Sieg, Noelle, Kutsch, Nadine, Becker, Kerstin, Weiss, Jonathan, Reinhardt, H. Christian, Hallek, Michael, Borchmann, Peter, von Tresckow, Bastian and Borchmann, Sven (2022). Noninvasive, Dynamic Risk Profiling of Primary Central Nervous System Lymphoma By Peripheral Blood Ctdna-Sequencing. Blood, 140. S. 3537 - 3539. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Koenig, Katharina, Peifer, Martin ORCID: 0000-0002-5243-5503, Fassunke, Jana, Ihle, Michaela A., Kuenstlinger, Helen, Heydt, Carina, Stamm, Katrin, Ueckeroth, Frank, Vollbrecht, Claudia ORCID: 0000-0002-0861-001X, Bos, Marc, Gardizi, Masyar, Scheffler, Matthias ORCID: 0000-0002-9031-1368, Nogova, Lucia, Leenders, Frauke, Albus, Kerstin, Meder, Lydia ORCID: 0000-0002-9547-5812, Becker, Kerstin, Florin, Alexandra, Rommerscheidt-Fuss, Ursula, Altmueller, Janine, Kloth, Michael, Nuernberg, Peter, Henkel, Thomas, Bikar, Sven-Ernoe, Sos, Martin L., Geese, William J., Strauss, Lewis, Ko, Yon-Dschun, Gerigk, Ulrich, Odenthal, Margarete, Zander, Thomas, Wolf, Juergen, Merkelbach-Bruse, Sabine, Buettner, Reinhard and Heukamp, Lukas C. (2015). Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients. J. Thorac. Oncol., 10 (7). S. 1049 - 1058. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1556-1380

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

Lopez-Rivera, Javier A., Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas ORCID: 0000-0002-3801-1595, Coras, Roland, Kobow, Katja ORCID: 0000-0002-0074-2480, Bhattarai, Nisha, Perez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Roessler, Karl, Bien, Christian G. ORCID: 0000-0003-2225-8654, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmueller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M., Nuernberg, Peter, Najm, Imad, Bluemcke, Ingmar and Lal, Dennis . The genomic landscape across 474 surgically accessible epileptogenic human brain lesions. Brain. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Franke, Andre ORCID: 0000-0003-1530-5811, Nuernberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic (2017). A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am. J. Hum. Genet., 101 (3). S. 417 - 428. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

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, 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

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

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, 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, 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

Thesis

Becker, Kerstin (2012). Molecular Genetics of Dupuytren´s Disease. PhD thesis, Universität zu Köln.