Universität zu Köln

Journal Article

Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J. (2014). Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Hum. Mutat., 35 (10). S. 1153 - 1163. HOBOKEN: WILEY. ISSN 1098-1004

Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel ORCID: 0000-0003-4554-9796, Begemann, Matthias ORCID: 0000-0002-4659-8437, Kanber, Deniz, Platzer, Konrad ORCID: 0000-0001-6127-6308, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew ORCID: 0000-0002-1077-7417, Heller, Raoul, Buiting, Karin and Eggermann, Thomas (2015). Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur. J. Hum. Genet., 23 (2). S. 180 - 189. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Bolz, Hanno Joern, Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Nuernberg, Peter, Karnati, Srikanth, Swan, Daniel, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Zaki, Maha (2015). PEX6 mutation causing deaf blindness with enamel dysplasia and microcephaly. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

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

Elsayed, Solaf M., Heller, Raoul, Thoenes, Michaela, Zaki, Maha S., Swan, Daniel ORCID: 0000-0001-8978-8129, Elsobky, Ezzat, Zuehlke, Christine, Ebermann, Inga, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2014). Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur. J. Hum. Genet., 22 (2). S. 286 - 289. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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

Guenther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Huebner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna ORCID: 0000-0003-2975-4888 and Beetz, Christian ORCID: 0000-0001-7061-2895 (2016). High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Hum. Mutat., 37 (7). S. 703 - 710. HOBOKEN: WILEY. ISSN 1098-1004

Hagen, Anja, Bigl, Arndt, Wand, Dorothea, Klopocki, Eva ORCID: 0000-0003-1438-2081, Heller, Raoul, Siekmeyer, Manuela, Siekmeyer, Werner, Kiess, Wieland and Merkenschlager, Andreas (2011). Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings. Am. J. Med. Genet. A, 155A (12). S. 3075 - 3082. MALDEN: WILEY-BLACKWELL. ISSN 1552-4825

Heesen, Ludwig, Peitz, Michael, Torres-Benito, Laura, Hoelker, Irmgard, Hupperich, Kristina, Dobrindt, Kristina, Jungverdorben, Johannes, Ritzenhofen, Swetlana, Weykopf, Beatrice, Eckert, Daniela, Hosseini-Barkooie, Seyyed Mohsen, Storbeck, Markus, Fusaki, Noemi, Lonigro, Renata, Heller, Raoul, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Bruestle, Oliver and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2016). Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Cell. Mol. Life Sci., 73 (10). S. 2089 - 2105. BASEL: SPRINGER BASEL AG. ISSN 1420-9071

Heller, Raoul and Bolz, Hanno J. (2015). The challenge of defining pathogenicity: the example of AHI1. Genet. Med., 17 (6). S. 508 - 509. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

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

Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum. Mutat., 39 (9). S. 1284 - 1299. HOBOKEN: WILEY. ISSN 1098-1004

Karakaya, Mert, Yilmaz, Sanem, Storbeck, Markus, Hoelker, Irmgard, Heller, Raoul, Serdaroglu, Gul, Gokben, Sarenur, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). PRUNE1: a disease-causing gene for secondary microcephaly. Brain, 140. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Kuehne, Benjamin, Heine, Eva, Dafsari, Hormos Salimi, Irvvin, Raphael, Heller, Raoul, Bangen, Ursula, Brockmeier, Konrad, Kribs, Angela, Oberthuer, Andre and Cirak, Sebahattin (2019). Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features. Mol. Cell. Probes, 45. S. 89 - 94. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J. (2017). Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol. Genet. Genom. Med., 5 (5). S. 531 - 553. HOBOKEN: WILEY. ISSN 2324-9269

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

Reynolds, John J., Bicknell, Louise S., Carroll, Paula, Higgs, Martin R., Shaheen, Ranad, Murray, Jennie E., Papadopoulos, Dimitrios K., Leitch, Andrea, Murina, Olga ORCID: 0000-0003-1650-2892, Tarnauskaite, Zygimante, Wessel, Sarah R., Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex ORCID: 0000-0002-4952-8573, Mottram, Rachel M. A., Logan, Clare V., Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C., Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S., Amar, Ariella, Prescott, Natalie J., Bober, Michael B., Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmueller, Janine, Al Balwi, Mohammed ORCID: 0000-0003-2910-0390, Brady, Angela F., Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D., Hobson, Emma, Nurnberg, Peter, Percin, E. Ferda, Peron, Angela ORCID: 0000-0002-1769-6548, Spaccini, Luigina, Quigley, Alan J., Thakur, Seema, Wise, Carol A., Yoon, Grace, Alnemer, Maha, Tomancak, Pavel ORCID: 0000-0002-2222-9370, Yigit, Goekhan, Taylor, A. Malcolm R., Reijns, Martin A. M., Simpson, Michael A., Cortez, David, Alkuraya, Fowzan S., Mathew, Christopher G., Jackson, Andrew P. and Stewart, Grant S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genet., 49 (4). S. 537 - 553. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

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

Sergouniotis, Panagiotis I., McKibbin, Martin, Robson, Anthony G., Bolz, Hanno J., De Baere, Elfride ORCID: 0000-0002-5609-6895, Mueller, Philipp L., Heller, Raoul, El-Asrag, Mohammed E., Van Schil, Kristof, Plagnol, Vincent ORCID: 0000-0002-5597-9215, Toomes, Carmel ORCID: 0000-0001-8373-9545, Ali, Manir ORCID: 0000-0003-3204-3788, Holder, Graham E., Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Leroy, Bart P., Inglehearn, Chris F. and Webster, Andrew R. (2015). Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Invest. Ophthalmol. Vis. Sci., 56 (13). S. 8083 - 8091. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Storbeck, Markus, Eriksen, Beate Horsberg, Unger, Andreas, Hoelker, Irmgard, Aukrust, Ingvild, Martinez-Carrera, Lilian A., Linke, Wolfgang A., Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur. J. Hum. Genet., 25 (9). S. 1040 - 1049. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Wunram, Heidrun Lioba, Oberste, Max, Ziemendorff, Alischa, Hamacher, Stefanie ORCID: 0000-0003-2158-9101, Kapanci, Tugba, Heller, Raoul, Blick, Serjosha, Bloch, Wilhelm, Clajus, Theresia Christina, Schoenau, Eckhard, Bender, Stephan and Fricke, Oliver (2021). Differential effects of ergometer-cycling and Whole-Body-Vibration training on serological BDNF and IGF-1 in the treatment of adolescent depression - is there an impact of BDNFp.Val66Met variants? Physiol. Behav., 241. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-507X

Zaki, Maha ORCID: 0000-0001-7840-0002, Thoenes, Michaela, Kawalia, Amit, Nuernberg, Peter, Kaiser, Rolf, Heller, Raoul and Bolz, Hanno J. (2017). Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation. Front. Genet., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004