Universität zu Köln

Journal Article

Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer ORCID: 0000-0002-4412-7391, Abdullah, Uzma, Honing, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Fortugno, Paola, White, Susan M., Krawitz, Peter, Hurst, Anna C. E., Niefind, Karsten ORCID: 0000-0002-0183-6315, Jose, Joachim ORCID: 0000-0002-0666-2676, Brancati, Francesco, Nurnberg, Peter and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Hum. Genet. Genom. Adv., 3 (3). AMSTERDAM: ELSEVIER. ISSN 2666-2477

Blume, Felix, Kirsten, Holger ORCID: 0000-0002-3126-7950, Ahnert, Peter ORCID: 0000-0002-1771-0856, Chakraborty, Trinad, Gross, Arnd ORCID: 0000-0002-5961-5507, Horn, Katrin, Toliat, Mohammad Reza, Nurnberg, Peter, Westenfelder, Eva-Maria, Goepel, Wolfgang and Scholz, Markus . Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. Pediatr. Res.. LONDON: SPRINGERNATURE. ISSN 1530-0447

Dumont, Martine ORCID: 0000-0002-5488-4839, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna ORCID: 0000-0001-7756-8815, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stephane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallee, Maxime, Fournier, Frederic, Lemacon, Audrey, Adank, Muriel A., Allen, Jamie, Altmueller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley ORCID: 0000-0002-3280-7154, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horvath, Judit, Ikram, M. Arf An, Kaulfuss, Silke ORCID: 0000-0003-2577-9711, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Ott, Claus-Eric, Peters, Annette ORCID: 0000-0001-6645-0985, Pharoah, Paul D. P., Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stabler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael ORCID: 0000-0003-2589-6440, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter ORCID: 0000-0002-8023-2009, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric and Simard, Jacques ORCID: 0000-0001-6906-3390 (2022). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers, 14 (14). BASEL: MDPI. ISSN 2072-6694

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Plenker, Dennis, Osada, Hirotaka, Sun, Ruping, Menon, Roopika, Leenders, Frauke, Ortiz-Cuaran, Sandra, Peifer, Martin ORCID: 0000-0002-5243-5503, Bos, Marc, Dassler, Juliane, Malchers, Florian, Schottle, Jakob, Vogel, Wenzel, Dahmen, Ilona, Koker, Mirjam, Ullrich, Roland T., Wright, Gavin M., Russell, Prudence A., Wainer, Zoe, Solomon, Benjamin, Brambilla, Elisabeth, Nagy-Mignotte, Helene, Moro-Sibilot, Denis, Brambilla, Christian G., Lantuejoul, Sylvie, Altmuller, Janine, Becker, Christian, Nurnberg, Peter, Heuckmann, Johannes M., Stoelben, Erich, Petersen, Iver, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Saenger, Joerg, Muscarella, Lucia A., la Torre, Annamaria ORCID: 0000-0003-4199-1077, Fazio, Vito M., Lahortiga, Idoya, Perera, Timothy, Ogata, Souichi, Parade, Marc, Brehmer, Dirk, Vingron, Martin, Heukamp, Lukas C., Buettner, Reinhard, Zander, Thomas, Wolf, Jurgen, Perner, Sven, Ansen, Sascha, Haas, Stefan A., Yatabe, Yasushi ORCID: 0000-0003-1788-559X and Thomas, Roman K. (2014). CD74-NRG1 Fusions in Lung Adenocarcinoma. Cancer Discov., 4 (4). S. 415 - 423. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 2159-8290

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

Heinrich, Maria, Sieg, Miriam, Kruppa, Jochen, Nurnberg, Peter, Schreier, Peter H., Heilmann-Heimbach, Stefanie, Hoffmann, Per, Nothen, Markus M., Janke, Jurgen, Pischon, Tobias ORCID: 0000-0003-1568-767X, Slooter, Arjen J. C., Winterer, Georg and Spies, Claudia D. (2021). Association between genetic variants of the cholinergic system and postoperative delirium and cognitive dysfunction in elderly patients. BMC Med. Genomics, 14 (1). LONDON: BMC. ISSN 1755-8794

Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Honing, Stefan, Baig, Shahid Mahmood, Nurnberg, Peter and Hussain, Muhammad Sajid (2022). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021). Clin. Genet., 101 (2). S. 272 - 273. HOBOKEN: WILEY. ISSN 1399-0004

Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Kuechler, Alma (2021). MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur. J. Med. Genet., 64 (10). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Koko, Mahmoud ORCID: 0000-0001-9512-0184, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL-Amin, Melka, Esteves, Typhaine, Altmuller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nurnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger and Stevanin, Giovanni ORCID: 0000-0001-9368-8657 (2021). An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann. Hum. Genet., 85 (5). S. 186 - 196. HOBOKEN: WILEY. ISSN 1469-1809

Lima Cunha, Dulce ORCID: 0000-0002-6814-8365, Oram, Amanda, Gruber, Robert, Plank, Roswitha, Lingenhel, Arno, Gupta, Manoj K., Altmuller, Janine ORCID: 0000-0003-4372-1521, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Zschocke, Johannes ORCID: 0000-0002-0046-8274, Saric, Tomo, Eckl, Katja M. and Hennies, Hans C. (2021). hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers. Int. J. Mol. Sci., 22 (4). BASEL: MDPI. ISSN 1422-0067

Moosa, Shahida, Chentli, Farida, Altmuller, Janine, Bogershausen, Nina, Nurnberg, Peter, Yigit, Gokhan, Li, Yun and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Genomic basis of syndromic short stature in an Algerian patient cohort. Am. J. Med. Genet. A, 188 (2). S. 606 - 613. HOBOKEN: WILEY. ISSN 1552-4833

Portelli, Michael A., Siedlinski, Mateusz ORCID: 0000-0001-7682-6122, Stewart, Ceri E., Postma, Dirkje S., Nieuwenhuis, Maartje A., Vonk, Judith M., Nurnberg, Peter, Altmuller, Janine, Moffatt, Miriam F., Wardlaw, Andrew J., Parker, Stuart G., Connolly, Martin J., Koppelman, Gerard H. and Sayers, Ian ORCID: 0000-0001-5601-5410 (2014). Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels. Faseb J., 28 (2). S. 923 - 935. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

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

Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana ORCID: 0000-0001-8939-1447, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa ORCID: 0000-0002-1441-3530, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele ORCID: 0000-0003-4788-9719, Zara, Federico ORCID: 0000-0001-9744-5222, Salpietro, Vincenzo, Scala, Marcello ORCID: 0000-0003-2194-7239, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kupper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger ORCID: 0000-0001-7774-5025, Nurnberg, Peter, Nurnberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaser, Dieter, Huttel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita ORCID: 0000-0002-9841-170X, Houlden, Henry, Bartesaghi, Luca ORCID: 0000-0001-8218-4648, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark ORCID: 0000-0003-1985-3671 and Senderek, Jan (2021). Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain, 144 (5). S. 1422 - 1435. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Wollstein, Andreas, Lao, Oscar ORCID: 0000-0002-8525-9649, Becker, Christian, Brauer, Silke, Trent, Ronald J., Nurnberg, Peter, Stoneking, Mark and Kayser, Manfred (2010). Demographic History of Oceania Inferred from Genome-wide Data. Curr. Biol., 20 (22). S. 1983 - 1993. CAMBRIDGE: CELL PRESS. ISSN 0960-9822

Wong, Keit Men ORCID: 0000-0002-5449-6318, Jepsen, Wayne M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza and Huppke, Peter (2022). Mutations in TAF8 cause a neurodegenerative disorder. Brain, 145 (9). S. 3022 - 3035. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156