Universität zu Köln

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

Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2015). BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res., 25 (2). S. 155 - 167. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Braun, Till, Glass, Markus ORCID: 0000-0003-2718-8907, Wahnschaffe, Linus, Otte, Moritz, Mayer, Petra, Franitza, Marek, Altmuller, Janine ORCID: 0000-0003-4372-1521, Hallek, Michael ORCID: 0000-0002-7425-4455, Huttelmaier, Stefan, Schrader, Alexandra and Herling, Marco (2022). Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways. Haematologica, 107 (1). S. 187 - 201. PAVIA: FERRATA STORTI FOUNDATION. ISSN 0390-6078

Breiderhoff, Tilman ORCID: 0000-0002-1676-7498, Himmerkus, Nina ORCID: 0000-0002-2910-6728, Meoli, Luca ORCID: 0000-0002-9853-2624, Fromm, Anja, Sewerin, Sebastian ORCID: 0000-0002-9094-9636, Kriuchkova, Natalia ORCID: 0000-0002-9795-2440, Nagel, Oliver ORCID: 0000-0003-1434-726X, Ladilov, Yury ORCID: 0000-0002-9836-8801, Krug, Susanne M., Quintanova, Catarina ORCID: 0000-0001-6617-2006, Stumpp, Meike ORCID: 0000-0001-7765-2996, Garbe-Schoenberg, Dieter, Westernstroeer, Ulrike, Merkel, Cosima, Brinkhus, Merle Annette, Altmuller, Janine ORCID: 0000-0003-4372-1521, Schweiger, Michal R., Muller, Dominik, Mutig, Kerim, Morawski, Markus, Halbritter, Jan ORCID: 0000-0002-1377-9880, Milatz, Susanne ORCID: 0000-0001-9893-0473, Bleich, Markus ORCID: 0000-0002-1745-2295 and Guenzel, Dorothee (2022). Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution. J. Am. Soc. Nephrol., 33 (4). S. 699 - 718. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

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

Gabriel, Elke, Albanna, Walid, Pasquini, Giovanni ORCID: 0000-0002-5750-6307, Ramani, Anand, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Mariappan, Aruljothi, Schinzel, Friedrich, Karch, Celeste M., Bao, Guobin, Gottardo, Marco, Suren, Ata Alp, Hescheler, Jurgen, Nagel-Wolfrum, Kerstin, Persico, Veronica, Rizzoli, Silvio O., Altmuller, Janine, Riparbelli, Maria Giovanna, Callaini, Giuliano, Goureau, Olivier, Papantonis, Argyris, Busskamp, Volker, Schneider, Toni and Gopalakrishnan, Jay (2021). Human brain organoids assemble functionally integrated bilateral optic vesicles. Cell Stem Cell, 28 (10). S. 1740 - 1767. CAMBRIDGE: CELL PRESS. ISSN 1875-9777

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

Goulielmaki, Evi, Tsekrekou, Maria ORCID: 0000-0002-0635-1499, Batsiotos, Nikos, Ascensao-Ferreira, Mariana, Ledaki, Eleftheria, Stratigi, Kalliopi, Chatzinikolaou, Georgia, Topalis, Pantelis ORCID: 0000-0002-1635-4810, Kosteas, Theodore, Altmuller, Janine, Demmers, Jeroen A., Barbosa-Morais, Nuno L. and Garinis, George A. (2021). The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing. Nat. Commun., 12 (1). BERLIN: NATURE RESEARCH. ISSN 2041-1723

Hauke, Jan, Heimbach, Andre, Richters, Lisa Katharina, Kroeber, Sandra, Altmuller, Janine, Thiele, Holger, Nuernberg, Peter, Wappenschmidt, Barbara, Neidhardt, Guido, Rhiem, Kerstin, Schmutzler, Rita K. and Hahnen, Eric (2016). Next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families. J. Clin. Oncol., 34 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Keil, Philipp, Wulf, Alexander, Kachariya, Nitin, Reuscher, Samira, Huhn, Kristin, Silbern, Ivan, Altmuller, Janine ORCID: 0000-0003-4372-1521, Keller, Mario, Stehle, Ralf, Zarnack, Kathi ORCID: 0000-0003-3527-3378, Sattler, Michael ORCID: 0000-0002-1594-0527, Urlaub, Henning and Straesser, Katja (2023). Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA. Nucleic Acids Res., 51 (2). S. 831 - 852. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

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

Leenen, Esther, Erger, Florian, Altmuller, Janine ORCID: 0000-0003-4372-1521, Wenzel, Andrea, Thiele, Holger, Harth, Ana ORCID: 0000-0002-1551-9214, Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Lokhande, Shanti, Joerres, Achim, Becker, Jan-Ulrich, Ekici, Arif, Huettel, Bruno, Beck, Bodo and Weidemann, Alexander (2022). Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis. Nephrol. Dial. Transplant., 37 (10). S. 1895 - 1906. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

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

Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske ORCID: 0000-0002-7146-617X, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale ORCID: 0000-0002-6065-1476, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmuller, Janine, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Becker, Felicitas, Balling, Rudi ORCID: 0000-0003-2902-5650, Biskup, Saskia, Haas, Stefan A., Nuernberg, Peter, van Gassen, Koen L. I., Lerche, Holger, Zara, Federico ORCID: 0000-0001-9744-5222, Maljevic, Snezana ORCID: 0000-0003-1876-5872 and Leshinsky-Silver, Esther (2017). Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain, 140. S. 2879 - 2895. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Perne, Claudia, Peters, Sophia, Cartolano, Maria, Horpaopan, Sukanya, Grimm, Christina, Altmuller, Janine, Sommer, Anna K., Hillmer, Axel M., Thiele, Holger, Odenthal, Margarete, Moeslein, Gabriela, Adam, Ronja, Sivalingam, Sugirthan, Kirfel, Jutta, Schweiger, Michal R., Peifer, Martin, Spier, Isabel and Aretz, Stefan (2021). Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis. PLoS One, 16 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Talyan, Sweta ORCID: 0000-0002-7160-6742, Filipow, Samantha ORCID: 0000-0002-9290-1273, Ignarski, Michael ORCID: 0000-0001-6057-7694, Smieszek, Magdalena, Chen, He ORCID: 0000-0002-7616-8438, Kuehne, Lucas, Butt, Linus, Gobel, Heike, Hoyer-Allo, K. Johanna R., Koehler, Felix C., Altmuller, Janine ORCID: 0000-0003-4372-1521, Brinkkoeter, Paul, Schermer, Bernhard, Benzing, Thomas, Kann, Martin ORCID: 0000-0003-2956-1699, Mueller, Roman-Ulrich and Dieterich, Christoph (2021). CALINCA-A Novel Pipeline for the Identification of lncRNAs in Podocyte Disease. Cells, 10 (3). BASEL: MDPI. ISSN 2073-4409

Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm and Sanna-Cherchi, Simone (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am. J. Hum. Genet., 108 (2). S. 357 - 368. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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