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

Bey, Katharina, Lennertz, Leonhard, Markett, Sebastian, Petrovsky, Nadine, Gallinat, Juergen, Gruender, Gerhard, Spreckelmeyer, Katja N., Wienker, Thomas F., Mobascher, Arian, Dahmen, Norbert, Thuerauf, Norbert, Kornhuber, Johannes ORCID: 0000-0002-8096-3987, Kiefer, Falk, Toliat, Mohammad R., Nuernberg, Peter, Winterer, Georg and Wagner, Michael ORCID: 0000-0003-2589-6440 (2016). Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample. Eur. Neuropsychopharmacol., 26 (1). S. 150 - 156. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1873-7862

Budde, Birgit S., Aly, Maha Abdelgaber, Mohamed, Mostafa R., Bress, Andreas, Altmueller, Janine, Motameny, Susanne, Kawalia, Amit, Thiele, Holger, Konrad, Kathryn, Becker, Christian, Toliat, Mohammad R., Nuernberg, Gudrun, Sayed, Eman Abdel Fattah, Mohamed, Enass Sayed, Pfister, Markus and Nuernberg, Peter (2020). Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin. Genet., 98 (1). S. 32 - 43. HOBOKEN: WILEY. ISSN 1399-0004

Budde, Birgit S., Mizumoto, Shuji ORCID: 0000-0002-4641-1505, Kogawa, Ryo, Becker, Christian, Altmueller, Janine, Thiele, Holger, Rueschendorf, Franz, Toliat, Mohammad R., Kaleschke, Gerrit, Haemmerle, Johannes M., Hoaehne, Wolfgang, Sugahara, Kazuyuki, Nuernberg, Peter and Kennerknecht, Ingo (2015). Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum. Genet., 134 (7). S. 691 - 705. NEW YORK: SPRINGER. ISSN 1432-1203

Claushuis, Theodora A. M., van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Klouwenberg, Peter M. C. Klein, Hoogendijk, Arie J., Ong, David S. Y., Cremer, Olaf L., Horn, Janneke, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Zwinderman, Aeilko H., Bonten, Marc J., Schultz, Marcus J. and van der Poll, Tom (2016). Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients. Blood, 127 (24). S. 3062 - 3073. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Crispatzu, Giuliano, Kulkarni, Pranav, Toliat, Mohammad R., Nuernberg, Peter, Herling, Marco, Herling, Carmen D. and Frommolt, Peter ORCID: 0000-0002-1966-8014 (2017). Semi-automated cancer genome analysis using high-performance computing. Hum. Mutat., 38 (10). S. 1325 - 1336. HOBOKEN: WILEY. ISSN 1098-1004

Erger, Florian ORCID: 0000-0002-2768-1702, Noerling, Deborah, Borchert, Domenica, Leenen, Esther, Habbig, Sandra, Wiesener, Michael S., Bartram, Malte P., Wenzel, Andrea, Becker, Christian, Toliat, Mohammad R., Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2020). cfNOMe- A single assay for comprehensive epigenetic analyses of cell-free DNA. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

Grassmann, Felix ORCID: 0000-0003-1390-7528, Harsch, Sebastian, Brandl, Caroline ORCID: 0000-0001-8223-6137, Kiel, Christina ORCID: 0000-0003-3154-4847, Nuernberg, Peter, Toliat, Mohammad R., Fleckenstein, Monika, Pfau, Maximilian, Schmitz-Valckenberg, Steffen, Holz, Frank G., Chew, Emily Y., Swaroop, Anand, Ratnapriya, Rinki ORCID: 0000-0002-0469-4631, Klein, Michael L., Mulyukov, Zufar, Zamiri, Parisa and Weber, Bernhard H. F. (2019). Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. JAMA Ophthalmol., 137 (8). S. 867 - 877. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173

Hossini, Amir M., Megges, Matthias, Prigione, Alessandro, Lichtner, Bjoern, Toliat, Mohammad R., Wruck, Wasco, Schroeter, Friederike, Nuernberg, Peter, Kroll, Hartmut, Makrantonaki, Eugenia, Zouboulis, Christos C. ORCID: 0000-0003-1646-2608 and Adjaye, James (2015). Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks (vol 16, 84, 2015). BMC Genomics, 16. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2164

Hossini, Amir M., Megges, Matthias, Prigione, Alessandro, Lichtner, Bjoern, Toliat, Mohammad R., Wruck, Wasco, Schroter, Friederike, Nuernberg, Peter, Kroll, Hartmut, Makrantonaki, Eugenia, Zoubouliss, Christos C. and Adjaye, James (2015). Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks. BMC Genomics, 16. LONDON: BMC. ISSN 1471-2164

Hossini, Amir M., Megges, Matthias, Prigione, Alessandro, Lichtner, Bjoern, Toliat, Mohammad R., Wruck, Wasco, Schroter, Friederike, Nuernberg, Peter, Kroll, Hartmut, Makrantonaki, Eugenia, Zoubouliss, Christos C. and Adjaye, James (2015). Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks. BMC Genomics, 16. LONDON: BMC. ISSN 1471-2164

Huson, Michaela A. M., Scicluna, Brendon P., van Vught, Lonneke A., Wiewel, Maryse A., Hoogendijk, Arie J., Cremer, Olaf L., Bonten, Marc J. M., Schultz, Marcus J., Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Grobusch, Martin P. and van der Poll, Tom (2016). The Impact of HIV Co-Infection on the Genomic Response to Sepsis. PLoS One, 11 (2). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Kamrath, Clemens, Schaenzer, Anne, Sander, Thomas, Hahn, Andreas and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One, 11 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Pernhorst, Katharina, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Reif, Philipp, Tozzi, Rossana, Toliat, Mohammad R., Winterer, Georg, Neubauer, Bernd, Nuernberg, Peter, Rosenow, Felix, Becker, Felicitas, Lerche, Holger, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Kurki, Mitja I., Hoffmann, Per, Becker, Albert J., Perucca, Emilio, Zara, Federico ORCID: 0000-0001-9744-5222, Sander, Thomas and Weber, Yvonne G. (2015). Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia, 56 (9). S. E129 - 5. HOBOKEN: WILEY. ISSN 1528-1167

Lal, Dennis, Reinthaler, Eva M., Altmueller, Janine, Toliat, Mohammad R., Thiele, Holger, Nuernberg, Peter, Lerche, Holger, Hahn, Andreas, Moller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2013). RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy. PLoS One, 8 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Helbig, Ingo ORCID: 0000-0001-8486-0558, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Ganna, Andrea ORCID: 0000-0002-8147-240X, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R., Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Howrigan, Daniel P., Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V., Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Neubauer, Bern A., Becker, Albert J., Rosenow, Felix, Perucca, Emilio, Zara, Federico ORCID: 0000-0001-9744-5222, Weber, Yvonne G. and Lal, Dennis (2017). Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. J. Med. Genet., 54 (9). S. 598 - 607. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Preising, Markus N., Goerg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmueller, Janine, Herebian, Diran ORCID: 0000-0002-8528-0122, Beyer, Mila, Zoellner, Helge J., Wittsack, Hans-Joerg, Schaper, Joerg, Klee, Dirk, Zechner, Ulrich, Nuernberg, Peter, Schipper, Joerg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit ORCID: 0000-0002-9737-8127, Haeussinger, Dieter and Bolz, Hanno J. (2019). Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Faseb J., 33 (10). S. 11507 - 11528. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A. and Zimprich, Fritz ORCID: 0000-0002-6998-5480 (2014). Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia, 55 (8). S. E89 - 5. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan ORCID: 0000-0002-2786-8200, Gieger, Christian ORCID: 0000-0001-6986-9554, Waldenberger, Melanie ORCID: 0000-0003-0583-5093, Franke, Andre ORCID: 0000-0003-1530-5811, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum. Mol. Genet., 23 (22). S. 6069 - 6081. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Schubert, Julian, Siekierska, Aleksandra ORCID: 0000-0003-4907-605X, Langlois, Melanie, May, Patrick ORCID: 0000-0001-8698-3770, Huneau, Clement, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid ORCID: 0000-0003-0328-198X, Lemke, Johannes R., de Kovel, Carolien G. F., Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R., Sander, Thomas, Rueschendorf, Franz, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Nagel, Inga, Kohl, Bernard, Kecskes, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H., Baulac, Stephanie ORCID: 0000-0001-6430-4693, Moller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C., Glusman, Gustavo ORCID: 0000-0001-8060-5955, Hood, Leroy, Galas, David J., Martin, Benoit, de Witte, Peter A. M., Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Balling, Rudi ORCID: 0000-0003-2902-5650, Nuernberg, Peter, Crawford, Alexander D., Esguerra, Camila V., Weber, Yvonne G. and Lerche, Holger (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature Genet., 46 (12). S. 1327 - 1333. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Scicluna, Brendon P., Klouwenberg, Peter M. C. Klein, van Vught, Lonneke A., Wiewel, Maryse A., Ong, David S. Y., Zwinderman, Aeilko H., Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Hoogendijk, Arie J., Horn, Janneke, Cremer, Olaf L., Schultz, Marcus J., Bonten, Marc J. and van der Poll, Tom (2015). A Molecular Biomarker to Diagnose Community-acquired Pneumonia on Intensive Care Unit Admission. Am. J. Respir. Crit. Care Med., 192 (7). S. 826 - 836. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970

Scicluna, Brendon P., Wiewel, Maryse A., van Vught, Lonneke A., Hoogendijk, Arie J., Klarenbeek, Augustijn M., Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Horn, Janneke, Bonten, Marc J., Schultz, Marcus J., Cremer, Olaf L. and van der Poll, Tom (2018). Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis upon ICU Admission. Am. J. Respir. Crit. Care Med., 197 (8). S. 1070 - 1074. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970

Steffens, Michael ORCID: 0000-0002-6445-8593, Leu, Costin ORCID: 0000-0003-0598-3301, Ruppert, Ann-Kathrin, Zara, Federico ORCID: 0000-0001-9744-5222, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio ORCID: 0000-0001-7384-3074, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G. F., Trenite, Dorothee Kasteleijn-Nolst, de Haan, Gerrit-Jan ORCID: 0000-0003-2373-9863, Lindhout, Dick ORCID: 0000-0001-9580-624X, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuss-Lie, Ailing A., Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Surges, Rainer ORCID: 0000-0002-3177-8582, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo ORCID: 0000-0001-8486-0558, Stephani, Ulrich, Moller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah ORCID: 0000-0003-1949-8489, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Leguern, Eric, Guerrero, Rosa ORCID: 0000-0002-4138-4667, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Moerzinger, Martina, Feucht, Martha, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid ORCID: 0000-0003-0328-198X, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena ORCID: 0000-0002-3833-3754, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Gieger, Christian ORCID: 0000-0001-6986-9554, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David ORCID: 0000-0002-4332-6110, Franke, Andre ORCID: 0000-0003-1530-5811, Meesters, Christian ORCID: 0000-0003-2408-7588, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rueschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nuernberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P. C. and Sander, Thomas (2012). Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum. Mol. Genet., 21 (24). S. 5359 - 5373. OXFORD: OXFORD UNIV PRESS. ISSN 0964-6906

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Walsh, Patrick R., McNicholas, Bairbre, Fistrek, Margareta, Habbig, Sandra, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Folz-Donahue, Kat, Kukat, Christian ORCID: 0000-0003-1508-0229, Toliat, Mohammad R., Becker, Christian, Thiele, Holger, Kavanagh, David, Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2022). Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. J. Mol. Diagn., 24 (6). S. 619 - 632. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Vikhorev, Petr G., Smoktunowicz, Natalia, Munster, Alex B., Copeland, Neal, Kostin, Sawa, Montgiraud, Cecile, Messer, Andrew E., Toliat, Mohammad R., Li, Amy ORCID: 0000-0001-5413-3771, dos Remedios, Cristobal G., Lal, Sean, Blair, Cheavar A., Campbell, Kenneth S., Guglin, Maya, Richter, Manfred, Knoll, Ralph and Marston, Steven B. (2018). Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes (vol 7, 14829, 2017). Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Vikhorev, Petr G., Smoktunowicz, Natalia, Munster, Alex B., Copeland, O'Neal, Kostin, Sawa, Montgiraud, Cecile, Messer, Andrew E., Toliat, Mohammad R., Li, Amy ORCID: 0000-0001-5413-3771, dos Remedios, Cristobal G., Lal, Sean, Blair, Cheavar A., Campbell, Kenneth S., Guglin, Maya, Knoll, Ralph and Marston, Steven B. (2017). Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Vogt, Johannes ORCID: 0000-0003-2439-8247, Yang, Jenq-Wei, Mobascher, Arian, Cheng, Jin, Li, Yunbo, Liu, Xingfeng, Baumgart, Jan ORCID: 0000-0003-1996-4267, Thalman, Carine, Kirischuk, Sergei, Unichenko, Petr, Horta, Guilherme, Radyushkin, Konstantin, Stroh, Albrecht, Richers, Sebastian, Sahragard, Nassim, Distler, Ute ORCID: 0000-0002-8031-6384, Tenzer, Stefan ORCID: 0000-0003-3034-0017, Qiao, Lianyong, Lieb, Klaus, Tuescher, Oliver, Binder, Harald ORCID: 0000-0002-5666-8662, Ferreiros, Nerea, Tegeder, Irmgard ORCID: 0000-0001-7524-8025, Morris, Andrew J., Gropa, Sergiu, Nuernberg, Peter, Toliat, Mohammad R., Winterer, Georg, Luhmann, Heiko J. ORCID: 0000-0002-7934-8661, Huai, Jisen and Nitsch, Robert (2016). Molecular cause and functional impact of altered synaptic lipid signaling due to a prg-1 gene SNP. EMBO Mol. Med., 8 (1). S. 25 - 39. HOBOKEN: WILEY. ISSN 1757-4684

Yigit, Goekhan, Saida, Ken, DeMarzo, Danielle, Miyake, Noriko, Fujita, Atsushi, Yang Tan, Tiong, White, Susan M., Wadley, Alexandrea, Toliat, Mohammad R., Motameny, Susanne, Franitza, Marek, Stutterd, Chloe A., Chong, Pin F., Kira, Ryutaro ORCID: 0000-0002-6878-5081, Sengoku, Toru ORCID: 0000-0001-9461-8714, Ogata, Kazuhiro, Guillen Sacoto, Maria J., Fresen, Christine, Beck, Bodo B., Nuernberg, Peter, Dieterich, Christoph, Wollnik, Bernd, Matsumoto, Naomichi and Altmueller, Janine (2020). The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum. Mutat., 41 (3). S. 591 - 600. HOBOKEN: WILEY. ISSN 1098-1004

van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Hoogendijk, Arie J., Klouwenberg, Peter M. C. Klein, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Cremer, Olaf L., Horn, Janneke, Schultz, Marcus J., Bonten, Marc M. J. and van der Poll, Tom (2016). Comparative Analysis of the Host Response to Community-acquired and Hospital-acquired Pneumonia in Critically Ill Patients. Am. J. Respir. Crit. Care Med., 194 (11). S. 1366 - 1375. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970

van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Hoogendijk, Arie J., Klouwenberg, Peter M. C. Klein, Ong, David S. Y., Cremer, Olaf L., Horn, Janneke, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Bonten, Marc M. J., Schultz, Marcus J. and van der Poll, Tom (2017). Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients. Crit. Care Med., 45 (11). S. 1854 - 1863. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1530-0293