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

Balogh, Eszter ORCID: 0000-0003-2813-4759, Chandler, Jennifer C. ORCID: 0000-0001-9785-4528, Varga, Mate ORCID: 0000-0003-4289-1705, Tahoun, Mona, Menyhard, Dora K., Schay, Gusztav, Goncalves, Tomas ORCID: 0000-0002-3342-0461, Hamar, Renata, Legradi, Regina ORCID: 0000-0002-5634-4000, Szekeres, Akos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szocs, Anna, Perczel, Kristof, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D'Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Javorszky, Eszter, Rudas, Gabor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Gotze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, Francois, Mollet, Geraldine, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Dorval, Guillaume ORCID: 0000-0003-3883-1398, Nurnberg, Peter, Perczel, Andras, Szabo, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kalman (2020). Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc. Natl. Acad. Sci. U. S. A., 117 (26). S. 15137 - 15148. WASHINGTON: NATL ACAD SCIENCES. ISSN 0027-8424

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

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

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

Fessler, Evelyn, Drost, Jarno ORCID: 0000-0002-2941-6179, van Hooff, Sander R., Linnekamp, Janneke F., Wang, Xin ORCID: 0000-0002-5122-2418, Jansen, Marnix, Melo, Felipe De Sousa E., Prasetyanti, Pramudita R., Ijspeert, Joep E. G., Franitza, Marek, Nurnberg, Peter, van Noesel, Carel J. M., Dekker, Evelien, Vermeulen, Louis ORCID: 0000-0002-6066-789X, Clevers, Hans and Medema, Jan Paul (2016). TGF beta signaling directs serrated adenomas to the mesenchymal colorectal cancer subtype. EMBO Mol. Med., 8 (7). S. 745 - 761. HOBOKEN: WILEY. ISSN 1757-4684

George, Julie, Walter, Vonn ORCID: 0000-0001-6114-6714, Peifer, Martin, Alexandrov, Ludmil B., Seidel, Danila ORCID: 0000-0003-4388-3117, Leenders, Frauke, Maas, Lukas, Mueller, Christian, Dahmen, Ilona, Delhomme, Tiffany M. ORCID: 0000-0003-0265-4246, Ardin, Maude, Leblay, Noemie, Byrnes, Graham ORCID: 0000-0003-3893-7539, Sun, Ruping, De Reynies, Aurelien, McLeer-Florin, Anne, Bosco, Graziella, Malchers, Florian, Menon, Roopika, Altmuller, Janine, Becker, Christian, Nurnberg, Peter, Achter, Viktor, Lang, Ulrich, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Bogus, Magdalena, Soloway, Matthew G., Wilkerson, Matthew D., Cun, Yupeng ORCID: 0000-0002-4241-8099, McKay, James D., Moro-Sibilot, Denis, Brambilla, Christian G., Lantuejoul, Sylvie, Lemaitre, Nicolas, Soltermann, Alex, Weder, Walter, Tischler, Verena ORCID: 0000-0002-6673-8329, Brustugun, Odd Terje, Lund-Iversen, Marius, Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Ansen, Sascha, Wright, Gavin, Solomon, Benjamin, Roz, Luca ORCID: 0000-0001-5817-7149, Pastorino, Ugo, Petersen, Iver, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Saenger, Jorg, Wolf, Jurgen, Vingron, Martin, Zander, Thomas, Perner, Sven, Travis, William D., Haas, Stefan A., Olivier, Magali, Foll, Matthieu ORCID: 0000-0001-9006-8436, Buettner, Reinhard, Hayes, David Neil, Brambilla, Elisabeth, Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703 and Thomas, Roman K. (2018). Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

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

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

Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik ORCID: 0000-0002-8387-2247, Stromme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J. V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh ORCID: 0000-0002-0658-3847, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Richholt, Ryan, Koeleman, Bobby P. C., Sa, Joaquim, Mendonca, Carla ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine ORCID: 0000-0001-9024-310X, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amelie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo ORCID: 0000-0001-8486-0558, Michaud, Jacques L., Laube, Bodo and Syrbe, Steffen (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology, 86 (23). S. 2171 - 2179. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

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

Ozieblo, Dominika ORCID: 0000-0002-3454-8002, Sarosiak, Anna ORCID: 0000-0003-0806-9195, Leja, Marcin L., Budde, Birgit S., Tacikowska, Grazyna ORCID: 0000-0002-5570-7092, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Bolz, Hanno J., Nurnberg, Peter, Skarzynski, Henryk and Oldak, Monika ORCID: 0000-0002-4216-9141 (2019). First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. J. Transl. Med., 17 (1). LONDON: BMC. ISSN 1479-5876

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

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

Scicluna, Brendon P., van Vught, Lonneke A., Zwinderman, Aeilko H., Wiewel, Maryse A., Davenport, Emma E., Burnham, Katie L., Nurnberg, Peter, Schultz, Marcus J., Horn, Janneke, Cremer, Olaf L., Bonten, Marc J., Hinds, Charles J., Wong, Hector R., Knight, Julian C. and van der Poll, Tom (2017). Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study. Lancet Resp. Med., 5 (10). S. 816 - 827. OXFORD: ELSEVIER SCI LTD. ISSN 2213-2600

Vidal, Elena A., Moyano, Tomas C., Bustos, Bernabe, I, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azocar, Lorena, Soto, Daniela C., Vidal, Mabel, Di Genoval, Alex, Puschel, Klaus, Nurnberg, Peter, Buch, Stephan, Hampe, Jochen ORCID: 0000-0002-2421-6127, Allende, Miguel L., Cambiazo, Veronica, Gonzalez, Mauricio, Hodar, Christian ORCID: 0000-0001-8617-7998, Montecino, Martin, Munoz-Espinoza, Claudia, Orellana, Ariel ORCID: 0000-0002-9243-808X, Reyes-Jara, Angelica ORCID: 0000-0002-5354-4322, Travisanyl, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro ORCID: 0000-0002-7038-4527, De Ferrari, Giancarlo, V, Mique, Juan Francisco and Gutierrez, Rodrigo A. (2019). Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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

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